Mutagenetix > Incidental Mutation

Incidental Mutation 'R9211:Bptf'

698889

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

Falz, 9430093H17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106923907-107022953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106946124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 2372 (S2372R)

Ref Sequence

ENSEMBL: ENSMUSP00000102374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057892] [ENSMUST00000106762] [ENSMUST00000106763] [ENSMUST00000133317]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057892
AA Change: S2257R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: S2257R

Domain	Start	End	E-Value	Type
low complexity region	12	44	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
low complexity region	77	119	N/A	INTRINSIC
low complexity region	137	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
DDT	252	312	2.02e-23	SMART
Pfam:WHIM1	351	400	4.7e-8	PFAM
PHD	404	447	2.23e-11	SMART
coiled coil region	864	894	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	987	998	N/A	INTRINSIC
low complexity region	1062	1072	N/A	INTRINSIC
low complexity region	1086	1098	N/A	INTRINSIC
low complexity region	1225	1238	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC
low complexity region	1491	1503	N/A	INTRINSIC
low complexity region	1594	1613	N/A	INTRINSIC
low complexity region	1636	1645	N/A	INTRINSIC
low complexity region	1665	1683	N/A	INTRINSIC
low complexity region	1818	1834	N/A	INTRINSIC
coiled coil region	1908	1936	N/A	INTRINSIC
low complexity region	1941	1957	N/A	INTRINSIC
low complexity region	2051	2061	N/A	INTRINSIC
low complexity region	2092	2107	N/A	INTRINSIC
low complexity region	2115	2128	N/A	INTRINSIC
low complexity region	2175	2197	N/A	INTRINSIC
low complexity region	2227	2252	N/A	INTRINSIC
low complexity region	2275	2312	N/A	INTRINSIC
low complexity region	2336	2355	N/A	INTRINSIC
low complexity region	2361	2378	N/A	INTRINSIC
low complexity region	2390	2420	N/A	INTRINSIC
low complexity region	2430	2463	N/A	INTRINSIC
coiled coil region	2489	2527	N/A	INTRINSIC
coiled coil region	2576	2604	N/A	INTRINSIC
low complexity region	2663	2700	N/A	INTRINSIC
low complexity region	2713	2736	N/A	INTRINSIC
PHD	2744	2791	5.32e-9	SMART
BROMO	2800	2908	5.5e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106762
AA Change: S2309R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: S2309R

Domain	Start	End	E-Value	Type
low complexity region	12	44	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
low complexity region	77	119	N/A	INTRINSIC
low complexity region	137	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
DDT	252	312	2.02e-23	SMART
Pfam:WHIM1	351	400	4.7e-8	PFAM
PHD	404	447	2.23e-11	SMART
internal_repeat_1	589	642	6.48e-5	PROSPERO
low complexity region	644	654	N/A	INTRINSIC
low complexity region	662	679	N/A	INTRINSIC
coiled coil region	926	956	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1039	1050	N/A	INTRINSIC
low complexity region	1114	1124	N/A	INTRINSIC
low complexity region	1138	1150	N/A	INTRINSIC
low complexity region	1277	1290	N/A	INTRINSIC
low complexity region	1303	1317	N/A	INTRINSIC
internal_repeat_1	1387	1440	6.48e-5	PROSPERO
low complexity region	1543	1555	N/A	INTRINSIC
low complexity region	1646	1665	N/A	INTRINSIC
low complexity region	1688	1697	N/A	INTRINSIC
low complexity region	1717	1735	N/A	INTRINSIC
low complexity region	1870	1886	N/A	INTRINSIC
coiled coil region	1960	1988	N/A	INTRINSIC
low complexity region	1993	2009	N/A	INTRINSIC
low complexity region	2103	2113	N/A	INTRINSIC
low complexity region	2144	2159	N/A	INTRINSIC
low complexity region	2167	2180	N/A	INTRINSIC
low complexity region	2227	2249	N/A	INTRINSIC
low complexity region	2279	2304	N/A	INTRINSIC
low complexity region	2327	2364	N/A	INTRINSIC
low complexity region	2388	2407	N/A	INTRINSIC
low complexity region	2413	2430	N/A	INTRINSIC
low complexity region	2442	2472	N/A	INTRINSIC
low complexity region	2482	2515	N/A	INTRINSIC
coiled coil region	2541	2579	N/A	INTRINSIC
coiled coil region	2628	2656	N/A	INTRINSIC
low complexity region	2715	2752	N/A	INTRINSIC
low complexity region	2765	2788	N/A	INTRINSIC
PHD	2796	2843	5.32e-9	SMART
BROMO	2852	2960	5.5e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106763
AA Change: S2372R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: S2372R

Domain	Start	End	E-Value	Type
low complexity region	12	44	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
low complexity region	77	119	N/A	INTRINSIC
low complexity region	137	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
DDT	252	312	2.02e-23	SMART
Pfam:WHIM1	351	400	4.9e-8	PFAM
PHD	404	447	2.23e-11	SMART
low complexity region	624	639	N/A	INTRINSIC
low complexity region	707	717	N/A	INTRINSIC
low complexity region	725	742	N/A	INTRINSIC
coiled coil region	989	1019	N/A	INTRINSIC
low complexity region	1076	1088	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1177	1187	N/A	INTRINSIC
low complexity region	1201	1213	N/A	INTRINSIC
low complexity region	1340	1353	N/A	INTRINSIC
low complexity region	1366	1380	N/A	INTRINSIC
low complexity region	1606	1618	N/A	INTRINSIC
low complexity region	1709	1728	N/A	INTRINSIC
low complexity region	1751	1760	N/A	INTRINSIC
low complexity region	1780	1798	N/A	INTRINSIC
low complexity region	1933	1949	N/A	INTRINSIC
coiled coil region	2023	2051	N/A	INTRINSIC
low complexity region	2056	2072	N/A	INTRINSIC
low complexity region	2166	2176	N/A	INTRINSIC
low complexity region	2207	2222	N/A	INTRINSIC
low complexity region	2230	2243	N/A	INTRINSIC
low complexity region	2290	2312	N/A	INTRINSIC
low complexity region	2342	2367	N/A	INTRINSIC
low complexity region	2390	2427	N/A	INTRINSIC
low complexity region	2451	2470	N/A	INTRINSIC
low complexity region	2476	2493	N/A	INTRINSIC
low complexity region	2505	2535	N/A	INTRINSIC
low complexity region	2545	2578	N/A	INTRINSIC
coiled coil region	2604	2642	N/A	INTRINSIC
coiled coil region	2691	2719	N/A	INTRINSIC
low complexity region	2778	2815	N/A	INTRINSIC
low complexity region	2828	2851	N/A	INTRINSIC
PHD	2859	2906	5.32e-9	SMART
BROMO	2915	3023	5.5e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133317

SMART Domains

Protein: ENSMUSP00000118875
Gene: ENSMUSG00000040481

Domain	Start	End	E-Value	Type
low complexity region	57	94	N/A	INTRINSIC
low complexity region	107	130	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone. [provided by MGI curators]

Allele List at MGI

All alleles(58) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(56)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,099,161 (GRCm39)	D85Y	possibly damaging	Het
Accs	T	C	2: 93,668,614 (GRCm39)	R315G	probably damaging	Het
Adam3	A	C	8: 25,177,910 (GRCm39)	W668G	probably benign	Het
Adgrb2	T	A	4: 129,886,199 (GRCm39)	V113E	probably benign	Het
Anapc4	C	T	5: 53,007,994 (GRCm39)	T391I	possibly damaging	Het
Angpt2	C	T	8: 18,748,078 (GRCm39)	G394D	probably benign	Het
Ankrd31	C	G	13: 97,029,551 (GRCm39)	L1662V	possibly damaging	Het
Ankrd36	A	G	11: 5,612,370 (GRCm39)	D1234G	possibly damaging	Het
Ankrd6	C	T	4: 32,806,580 (GRCm39)	V558M	probably damaging	Het
Ankrd61	T	A	5: 143,828,358 (GRCm39)	M206L	probably benign	Het
Arhgap33	C	T	7: 30,223,023 (GRCm39)	G970R	possibly damaging	Het
Atf7	A	G	15: 102,437,117 (GRCm39)	V115A	unknown	Het
Atp2c2	A	T	8: 120,446,032 (GRCm39)	R65S	probably benign	Het
Atp8b5	T	A	4: 43,367,960 (GRCm39)	M861K	probably damaging	Het
Bmi1	T	C	2: 18,689,152 (GRCm39)	S279P	probably benign	Het
Cacnb2	A	T	2: 14,879,308 (GRCm39)	I15L	unknown	Het
Card11	A	G	5: 140,869,375 (GRCm39)	M807T	probably benign	Het
Ccdc175	A	T	12: 72,153,458 (GRCm39)	D704E	probably damaging	Het
Cd300ld	T	A	11: 114,878,386 (GRCm39)	Y42F	probably damaging	Het
Cdh1	A	T	8: 107,390,962 (GRCm39)	T693S	probably benign	Het
Clca4b	T	C	3: 144,638,214 (GRCm39)	Y16C	possibly damaging	Het
Col4a4	A	G	1: 82,506,501 (GRCm39)	I273T	unknown	Het
Coro2b	C	A	9: 62,427,662 (GRCm39)	V9L	probably benign	Het
Crnkl1	T	C	2: 145,774,773 (GRCm39)	D55G	probably damaging	Het
Dcps	T	A	9: 35,035,872 (GRCm39)	N338I	probably damaging	Het
Dusp2	A	T	2: 127,179,311 (GRCm39)	H222L	probably benign	Het
Dync1li1	C	A	9: 114,518,012 (GRCm39)	Y21*	probably null	Het
Efhb	T	G	17: 53,756,507 (GRCm39)	Q381H	probably damaging	Het
Elac2	A	T	11: 64,869,864 (GRCm39)		probably benign	Het
Etaa1	A	G	11: 17,896,053 (GRCm39)	V688A	possibly damaging	Het
Fam120c	C	T	X: 150,127,495 (GRCm39)	H84Y	probably benign	Het
Fbxl7	T	A	15: 26,789,616 (GRCm39)	N37I	probably damaging	Het
Fndc3b	A	T	3: 27,523,086 (GRCm39)	W498R	probably damaging	Het
Galc	G	A	12: 98,173,699 (GRCm39)	A621V	probably benign	Het
Gch1	A	T	14: 47,426,519 (GRCm39)	I69N	probably damaging	Het
Gdpd4	T	C	7: 97,615,466 (GRCm39)	V97A	possibly damaging	Het
Hirip3	C	T	7: 126,463,567 (GRCm39)	R485*	probably null	Het
Hmgcs2	C	T	3: 98,204,748 (GRCm39)	T302I	possibly damaging	Het
Ing5	A	T	1: 93,740,409 (GRCm39)	K137I	possibly damaging	Het
Kcnh8	T	A	17: 53,146,236 (GRCm39)	Y375N	probably damaging	Het
Kdm3a	C	A	6: 71,573,674 (GRCm39)	W963L	probably benign	Het
Klra17	T	G	6: 129,842,651 (GRCm39)	I216L	possibly damaging	Het
Kmt2e	A	G	5: 23,669,770 (GRCm39)	K86E	possibly damaging	Het
Krt42	T	C	11: 100,155,867 (GRCm39)	N293S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,216 (GRCm39)	W209R	probably damaging	Het
Mettl23	C	T	11: 116,734,469 (GRCm39)	P13S	unknown	Het
Ncln	T	C	10: 81,323,527 (GRCm39)	Y540C	probably damaging	Het
Neb	C	G	2: 52,135,360 (GRCm39)	G3250A	probably damaging	Het
Nebl	A	G	2: 17,393,501 (GRCm39)		probably null	Het
Nqo2	A	T	13: 34,156,399 (GRCm39)	T38S	probably benign	Het
Obscn	A	T	11: 59,026,693 (GRCm39)	I170N	probably benign	Het
Or2bd2	G	T	7: 6,443,417 (GRCm39)	G173W	probably damaging	Het
Or4c100	A	G	2: 88,356,170 (GRCm39)	D81G	probably benign	Het
Or5af2	A	T	11: 58,708,709 (GRCm39)	N292Y	probably damaging	Het
Or5p6	C	T	7: 107,630,798 (GRCm39)	V251I	probably damaging	Het
Or7g28	T	A	9: 19,271,824 (GRCm39)	I276F	possibly damaging	Het
Or8k38	A	T	2: 86,488,024 (GRCm39)	Y259*	probably null	Het
Pacs1	A	T	19: 5,189,057 (GRCm39)	V775E	probably damaging	Het
Pheta2	A	T	15: 82,225,227 (GRCm39)		probably benign	Het
Pmfbp1	T	C	8: 110,262,445 (GRCm39)	I713T	probably benign	Het
Pnma8b	A	G	7: 16,679,589 (GRCm39)	D191G	unknown	Het
Polr1a	T	C	6: 71,943,521 (GRCm39)	I1252T	probably damaging	Het
Prss16	A	T	13: 22,192,754 (GRCm39)	M110K	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Rab5b	C	A	10: 128,519,063 (GRCm39)		probably null	Het
Reln	G	T	5: 22,549,200 (GRCm39)	Y69*	probably null	Het
Rgs12	T	A	5: 35,123,165 (GRCm39)	M316K	probably damaging	Het
Rmi2	T	C	16: 10,657,743 (GRCm39)	C118R	possibly damaging	Het
Rnf223	T	A	4: 156,216,834 (GRCm39)	C70S	probably damaging	Het
Rxrb	T	A	17: 34,255,626 (GRCm39)	F371Y	probably damaging	Het
Smurf2	T	A	11: 106,759,463 (GRCm39)	S78C	probably damaging	Het
Sorbs1	A	T	19: 40,332,798 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,032,614 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,871,319 (GRCm39)	H217R	probably benign	Het
Tiam2	T	G	17: 3,498,729 (GRCm39)	V835G	possibly damaging	Het
Tm2d2	C	T	8: 25,510,548 (GRCm39)	R136*	probably null	Het
Tnks	C	T	8: 35,316,489 (GRCm39)	D877N	probably damaging	Het
Tns1	A	G	1: 73,956,948 (GRCm39)	L491P	possibly damaging	Het
Trps1	A	G	15: 50,694,840 (GRCm39)	I485T	probably damaging	Het
Tubgcp5	A	G	7: 55,456,331 (GRCm39)	S308G	probably benign	Het
Ugt8a	T	C	3: 125,661,130 (GRCm39)	H454R	probably damaging	Het
Usp32	G	T	11: 84,913,559 (GRCm39)	T924K	probably damaging	Het
Vmn2r91	A	T	17: 18,356,819 (GRCm39)	K829*	probably null	Het
Zfc3h1	T	C	10: 115,248,328 (GRCm39)	F1146L	possibly damaging	Het
Zfp729a	G	T	13: 67,767,820 (GRCm39)	A803E	probably benign	Het
Zfp990	A	G	4: 145,264,171 (GRCm39)	T390A	probably damaging	Het

Other mutations in Bptf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Bptf	APN	11	106,946,105 (GRCm39)	missense	possibly damaging	0.88
IGL00664:Bptf	APN	11	106,968,491 (GRCm39)	missense	possibly damaging	0.78
IGL00705:Bptf	APN	11	106,986,534 (GRCm39)	splice site	probably benign
IGL00796:Bptf	APN	11	106,945,376 (GRCm39)	missense	probably damaging	1.00
IGL00834:Bptf	APN	11	106,964,754 (GRCm39)	missense	possibly damaging	0.59
IGL01155:Bptf	APN	11	106,971,553 (GRCm39)	missense	probably damaging	1.00
IGL01314:Bptf	APN	11	106,945,679 (GRCm39)	missense	probably damaging	1.00
IGL01371:Bptf	APN	11	106,946,733 (GRCm39)	missense	probably benign	0.00
IGL01567:Bptf	APN	11	106,949,600 (GRCm39)	missense	probably damaging	1.00
IGL01794:Bptf	APN	11	106,944,047 (GRCm39)	critical splice donor site	probably null
IGL02108:Bptf	APN	11	106,965,814 (GRCm39)	missense	probably benign	0.45
IGL02367:Bptf	APN	11	106,964,178 (GRCm39)	missense	probably benign
IGL02437:Bptf	APN	11	106,965,521 (GRCm39)	missense	probably benign	0.00
IGL02589:Bptf	APN	11	107,002,357 (GRCm39)	missense	possibly damaging	0.92
IGL02897:Bptf	APN	11	106,937,947 (GRCm39)	missense	probably damaging	1.00
IGL02935:Bptf	APN	11	106,971,625 (GRCm39)	missense	probably damaging	1.00
IGL02954:Bptf	APN	11	106,945,575 (GRCm39)	missense	possibly damaging	0.89
IGL02982:Bptf	APN	11	106,967,500 (GRCm39)	missense	probably damaging	1.00
IGL03109:Bptf	APN	11	106,952,527 (GRCm39)	missense	possibly damaging	0.53
IGL03265:Bptf	APN	11	106,945,454 (GRCm39)	missense	probably benign	0.00
IGL03403:Bptf	APN	11	106,990,559 (GRCm39)	missense	possibly damaging	0.51
Anodyne	UTSW	11	106,934,457 (GRCm39)	critical splice donor site	probably null
Arroyo	UTSW	11	106,933,516 (GRCm39)	missense	probably benign	0.32
mojado	UTSW	11	106,935,466 (GRCm39)	missense	probably benign	0.03
IGL03097:Bptf	UTSW	11	106,968,506 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Bptf	UTSW	11	106,945,614 (GRCm39)	missense	probably damaging	0.98
R0066:Bptf	UTSW	11	106,952,962 (GRCm39)	missense	possibly damaging	0.90
R0157:Bptf	UTSW	11	106,965,484 (GRCm39)	missense	possibly damaging	0.89
R0320:Bptf	UTSW	11	106,963,645 (GRCm39)	missense	probably damaging	1.00
R0328:Bptf	UTSW	11	106,937,953 (GRCm39)	missense	probably damaging	1.00
R0402:Bptf	UTSW	11	106,964,940 (GRCm39)	missense	probably damaging	1.00
R0482:Bptf	UTSW	11	106,972,088 (GRCm39)	missense	probably benign	0.13
R0574:Bptf	UTSW	11	106,967,353 (GRCm39)	missense	probably damaging	1.00
R0598:Bptf	UTSW	11	106,963,791 (GRCm39)	missense	probably damaging	0.99
R0599:Bptf	UTSW	11	106,959,208 (GRCm39)	missense	probably damaging	1.00
R0601:Bptf	UTSW	11	106,952,518 (GRCm39)	missense	probably benign	0.04
R0744:Bptf	UTSW	11	107,001,638 (GRCm39)	critical splice donor site	probably null
R0836:Bptf	UTSW	11	107,001,638 (GRCm39)	critical splice donor site	probably null
R0885:Bptf	UTSW	11	106,934,617 (GRCm39)	missense	probably damaging	1.00
R1070:Bptf	UTSW	11	106,945,881 (GRCm39)	missense	possibly damaging	0.92
R1252:Bptf	UTSW	11	106,964,077 (GRCm39)	missense	probably benign	0.00
R1370:Bptf	UTSW	11	106,937,920 (GRCm39)	missense	probably damaging	0.99
R1428:Bptf	UTSW	11	106,963,873 (GRCm39)	missense	probably damaging	0.99
R1467:Bptf	UTSW	11	106,945,881 (GRCm39)	missense	possibly damaging	0.92
R1467:Bptf	UTSW	11	106,945,881 (GRCm39)	missense	possibly damaging	0.92
R1742:Bptf	UTSW	11	107,001,777 (GRCm39)	missense	probably damaging	1.00
R1816:Bptf	UTSW	11	106,951,405 (GRCm39)	missense	probably damaging	1.00
R1858:Bptf	UTSW	11	106,964,127 (GRCm39)	missense	probably benign	0.00
R1989:Bptf	UTSW	11	106,965,652 (GRCm39)	missense	probably damaging	1.00
R2253:Bptf	UTSW	11	107,002,148 (GRCm39)	missense	probably damaging	1.00
R2392:Bptf	UTSW	11	106,963,573 (GRCm39)	missense	probably damaging	1.00
R2431:Bptf	UTSW	11	106,938,066 (GRCm39)	missense	possibly damaging	0.48
R3022:Bptf	UTSW	11	107,002,463 (GRCm39)	critical splice acceptor site	probably null
R3161:Bptf	UTSW	11	106,965,302 (GRCm39)	missense	probably damaging	1.00
R3686:Bptf	UTSW	11	106,965,024 (GRCm39)	missense	probably benign	0.25
R3687:Bptf	UTSW	11	106,965,024 (GRCm39)	missense	probably benign	0.25
R3688:Bptf	UTSW	11	106,965,024 (GRCm39)	missense	probably benign	0.25
R3787:Bptf	UTSW	11	106,964,653 (GRCm39)	missense	probably damaging	1.00
R3834:Bptf	UTSW	11	106,964,683 (GRCm39)	missense	probably benign	0.05
R3885:Bptf	UTSW	11	106,965,339 (GRCm39)	missense	probably damaging	0.97
R4090:Bptf	UTSW	11	106,972,349 (GRCm39)	missense	probably damaging	0.99
R4398:Bptf	UTSW	11	107,001,670 (GRCm39)	missense	probably damaging	1.00
R4437:Bptf	UTSW	11	106,965,300 (GRCm39)	missense	possibly damaging	0.59
R4514:Bptf	UTSW	11	106,968,518 (GRCm39)	missense	probably damaging	1.00
R4565:Bptf	UTSW	11	106,963,836 (GRCm39)	missense	probably damaging	1.00
R4715:Bptf	UTSW	11	106,938,007 (GRCm39)	missense	probably damaging	1.00
R4748:Bptf	UTSW	11	106,986,706 (GRCm39)	missense	probably damaging	0.96
R4764:Bptf	UTSW	11	106,934,520 (GRCm39)	missense	probably damaging	1.00
R4885:Bptf	UTSW	11	106,965,474 (GRCm39)	missense	probably benign	0.39
R4901:Bptf	UTSW	11	107,001,686 (GRCm39)	nonsense	probably null
R4995:Bptf	UTSW	11	106,945,391 (GRCm39)	missense	probably damaging	0.98
R5057:Bptf	UTSW	11	106,973,354 (GRCm39)	missense	probably damaging	0.98
R5120:Bptf	UTSW	11	106,964,211 (GRCm39)	missense	probably damaging	0.99
R5320:Bptf	UTSW	11	106,972,193 (GRCm39)	nonsense	probably null
R5329:Bptf	UTSW	11	106,964,121 (GRCm39)	missense	probably benign	0.06
R5418:Bptf	UTSW	11	107,002,120 (GRCm39)	missense	probably damaging	1.00
R5461:Bptf	UTSW	11	106,952,590 (GRCm39)	missense	probably damaging	1.00
R5664:Bptf	UTSW	11	106,964,525 (GRCm39)	missense	probably benign	0.01
R5718:Bptf	UTSW	11	107,002,260 (GRCm39)	missense	probably damaging	1.00
R5774:Bptf	UTSW	11	107,001,963 (GRCm39)	missense	probably damaging	1.00
R5851:Bptf	UTSW	11	107,001,688 (GRCm39)	missense	probably damaging	1.00
R5930:Bptf	UTSW	11	106,964,022 (GRCm39)	missense	probably damaging	1.00
R5949:Bptf	UTSW	11	107,001,915 (GRCm39)	missense	probably damaging	0.99
R5975:Bptf	UTSW	11	106,926,690 (GRCm39)	utr 3 prime	probably benign
R6027:Bptf	UTSW	11	106,965,771 (GRCm39)	missense	probably damaging	1.00
R6128:Bptf	UTSW	11	106,965,516 (GRCm39)	missense	possibly damaging	0.87
R6337:Bptf	UTSW	11	106,949,605 (GRCm39)	missense	possibly damaging	0.89
R6407:Bptf	UTSW	11	107,001,952 (GRCm39)	missense	probably damaging	1.00
R6470:Bptf	UTSW	11	106,963,593 (GRCm39)	missense	probably damaging	1.00
R6487:Bptf	UTSW	11	106,968,552 (GRCm39)	missense	probably damaging	0.99
R6501:Bptf	UTSW	11	106,968,509 (GRCm39)	missense	probably null	1.00
R6755:Bptf	UTSW	11	106,938,082 (GRCm39)	missense	probably benign	0.27
R6861:Bptf	UTSW	11	106,953,391 (GRCm39)	missense	probably damaging	1.00
R6866:Bptf	UTSW	11	106,964,406 (GRCm39)	missense	probably damaging	1.00
R6879:Bptf	UTSW	11	106,933,516 (GRCm39)	missense	probably benign	0.32
R6927:Bptf	UTSW	11	106,945,421 (GRCm39)	missense	probably damaging	1.00
R6944:Bptf	UTSW	11	106,971,649 (GRCm39)	missense	probably damaging	1.00
R7082:Bptf	UTSW	11	106,977,573 (GRCm39)	missense	probably benign	0.00
R7136:Bptf	UTSW	11	106,990,541 (GRCm39)	missense	probably damaging	1.00
R7162:Bptf	UTSW	11	106,934,457 (GRCm39)	critical splice donor site	probably null
R7171:Bptf	UTSW	11	107,022,233 (GRCm39)	missense	unknown
R7193:Bptf	UTSW	11	106,945,635 (GRCm39)	nonsense	probably null
R7210:Bptf	UTSW	11	106,945,290 (GRCm39)	nonsense	probably null
R7221:Bptf	UTSW	11	106,945,658 (GRCm39)	missense	probably damaging	1.00
R7316:Bptf	UTSW	11	107,001,740 (GRCm39)	nonsense	probably null
R7316:Bptf	UTSW	11	106,963,935 (GRCm39)	missense	probably damaging	1.00
R7422:Bptf	UTSW	11	106,951,384 (GRCm39)	missense	probably damaging	1.00
R7454:Bptf	UTSW	11	106,935,466 (GRCm39)	missense	probably benign	0.03
R7657:Bptf	UTSW	11	106,965,555 (GRCm39)	missense	probably damaging	1.00
R7718:Bptf	UTSW	11	106,972,282 (GRCm39)	missense	possibly damaging	0.65
R7827:Bptf	UTSW	11	106,938,013 (GRCm39)	missense	probably benign	0.01
R7844:Bptf	UTSW	11	106,964,887 (GRCm39)	missense	probably damaging	0.97
R7992:Bptf	UTSW	11	107,001,709 (GRCm39)	missense	probably benign	0.00
R8001:Bptf	UTSW	11	106,938,166 (GRCm39)	nonsense	probably null
R8037:Bptf	UTSW	11	106,946,776 (GRCm39)	missense	probably damaging	1.00
R8122:Bptf	UTSW	11	106,927,417 (GRCm39)	critical splice acceptor site	probably null
R8235:Bptf	UTSW	11	106,967,458 (GRCm39)	missense	probably benign	0.04
R8308:Bptf	UTSW	11	106,943,815 (GRCm39)	missense	probably damaging	0.99
R8409:Bptf	UTSW	11	106,953,495 (GRCm39)	missense	probably damaging	1.00
R8464:Bptf	UTSW	11	107,022,168 (GRCm39)	missense	probably benign	0.01
R8477:Bptf	UTSW	11	106,943,679 (GRCm39)	missense	probably damaging	0.98
R8482:Bptf	UTSW	11	106,934,524 (GRCm39)	missense	probably benign	0.19
R8515:Bptf	UTSW	11	106,946,064 (GRCm39)	missense	possibly damaging	0.85
R8519:Bptf	UTSW	11	106,952,590 (GRCm39)	missense	probably damaging	1.00
R8708:Bptf	UTSW	11	106,964,140 (GRCm39)	missense	probably damaging	1.00
R8708:Bptf	UTSW	11	106,964,139 (GRCm39)	missense	probably damaging	0.99
R8722:Bptf	UTSW	11	107,022,295 (GRCm39)	missense	unknown
R8732:Bptf	UTSW	11	106,931,206 (GRCm39)	missense	probably damaging	1.00
R8783:Bptf	UTSW	11	107,022,357 (GRCm39)	missense	unknown
R8828:Bptf	UTSW	11	106,945,836 (GRCm39)	missense	probably damaging	0.98
R9004:Bptf	UTSW	11	106,945,713 (GRCm39)	missense	probably damaging	1.00
R9010:Bptf	UTSW	11	106,964,576 (GRCm39)	missense	probably damaging	1.00
R9035:Bptf	UTSW	11	106,963,842 (GRCm39)	missense	probably damaging	1.00
R9083:Bptf	UTSW	11	106,959,176 (GRCm39)	missense	probably damaging	1.00
R9345:Bptf	UTSW	11	106,971,588 (GRCm39)	missense	possibly damaging	0.77
R9393:Bptf	UTSW	11	106,965,134 (GRCm39)	missense	probably benign	0.00
R9451:Bptf	UTSW	11	106,935,411 (GRCm39)	missense	probably damaging	1.00
R9561:Bptf	UTSW	11	106,964,954 (GRCm39)	nonsense	probably null
R9632:Bptf	UTSW	11	106,952,545 (GRCm39)	missense	probably damaging	1.00
R9648:Bptf	UTSW	11	106,943,720 (GRCm39)	missense	probably damaging	0.99
R9650:Bptf	UTSW	11	106,935,412 (GRCm39)	missense	probably benign	0.15
R9658:Bptf	UTSW	11	107,002,170 (GRCm39)	missense	probably damaging	1.00
R9775:Bptf	UTSW	11	106,934,502 (GRCm39)	missense	probably benign	0.04
R9776:Bptf	UTSW	11	106,969,396 (GRCm39)	missense	probably damaging	1.00
Z1088:Bptf	UTSW	11	106,965,408 (GRCm39)	missense	probably benign	0.00
Z1176:Bptf	UTSW	11	106,949,510 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCAGGGGTTTAGATGTCTG -3'
(R):5'- AGCTGAGCAGTTGCCAAAAC -3'

Sequencing Primer
(F):5'- TGTGTTTCAGAAGGGACATGGGAC -3'
(R):5'- CAGAATGCACCCGAGTTCGAG -3'

Posted On

2022-02-07