Mutagenetix > Incidental Mutation

Incidental Mutation 'R1816:Bptf'

204442

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

Falz, 9430093H17Rik

MMRRC Submission

039844-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106923907-107022953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106951405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 279 (V279E)

Ref Sequence

ENSEMBL: ENSMUSP00000122575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057892] [ENSMUST00000106762] [ENSMUST00000106763] [ENSMUST00000149486]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057892
AA Change: V2063E

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

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: V2063E

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: V2115E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: V2115E

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: V2178E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: V2178E

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 damaging
Transcript: ENSMUST00000149486
AA Change: V279E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122575
Gene: ENSMUSG00000040481
AA Change: V279E

Domain	Start	End	E-Value	Type
coiled coil region	70	98	N/A	INTRINSIC
low complexity region	103	119	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC

Meta Mutation Damage Score

0.4311

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,644,222 (GRCm39)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 106,436,491 (GRCm39)	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 89,960,398 (GRCm39)	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,639,788 (GRCm39)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,784,028 (GRCm39)	V316A	probably benign	Het
Anks1	T	A	17: 28,205,547 (GRCm39)	D294E	probably damaging	Het
Atr	T	C	9: 95,748,747 (GRCm39)	S431P	probably benign	Het
Bfsp1	C	T	2: 143,683,599 (GRCm39)	A242T	probably benign	Het
Camkk2	A	G	5: 122,872,243 (GRCm39)	L540P	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 17,805,690 (GRCm39)		probably null	Het
Cntnap5a	G	T	1: 116,356,618 (GRCm39)	A823S	probably benign	Het
Cp	T	C	3: 20,022,384 (GRCm39)		probably benign	Het
Dhx58	A	G	11: 100,593,978 (GRCm39)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Disp1	T	A	1: 182,880,139 (GRCm39)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,670,901 (GRCm39)		probably benign	Het
Eaf2	T	G	16: 36,628,371 (GRCm39)		probably benign	Het
Efna1	T	C	3: 89,183,694 (GRCm39)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,428,211 (GRCm39)	I462T	probably benign	Het
Fam83d	G	T	2: 158,610,070 (GRCm39)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,647,086 (GRCm39)		probably null	Het
Gm14226	A	T	2: 154,867,549 (GRCm39)	D502V	probably damaging	Het
Gm5117	T	A	8: 32,228,986 (GRCm39)		noncoding transcript	Het
Gm973	A	G	1: 59,621,558 (GRCm39)	N566S	probably damaging	Het
Grm7	A	T	6: 111,472,752 (GRCm39)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,489,585 (GRCm39)	T17I	possibly damaging	Het
Htt	C	T	5: 34,961,084 (GRCm39)	A237V	probably benign	Het
Itga6	T	C	2: 71,671,153 (GRCm39)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Mki67	T	C	7: 135,309,116 (GRCm39)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,286 (GRCm39)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Odam	A	G	5: 88,037,329 (GRCm39)		probably null	Het
Or1e33	T	C	11: 73,738,025 (GRCm39)	K309E	probably benign	Het
Or2ag13	A	T	7: 106,472,695 (GRCm39)	Y252*	probably null	Het
Or4p18	T	G	2: 88,232,943 (GRCm39)	I112L	possibly damaging	Het
Or5g29	G	T	2: 85,421,269 (GRCm39)	K128N	probably benign	Het
Or5p80	T	C	7: 108,229,364 (GRCm39)	L55P	probably damaging	Het
Or8k33	A	T	2: 86,384,011 (GRCm39)	C152*	probably null	Het
Pcm1	T	A	8: 41,762,574 (GRCm39)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,531,216 (GRCm39)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,908,088 (GRCm39)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,029,108 (GRCm39)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,391,635 (GRCm39)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,585,314 (GRCm39)	V1571I	probably benign	Het
Rfx2	C	A	17: 57,115,305 (GRCm39)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,857,928 (GRCm39)		probably null	Het
Slc22a12	G	A	19: 6,592,683 (GRCm39)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,242,056 (GRCm39)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,157,565 (GRCm39)	V48I	probably damaging	Het
Spata1	G	T	3: 146,186,962 (GRCm39)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,761,876 (GRCm39)	Q91*	probably null	Het
Stab1	T	C	14: 30,879,422 (GRCm39)	D686G	probably benign	Het
Stx8	T	A	11: 67,902,152 (GRCm39)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,279,436 (GRCm39)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,890,975 (GRCm39)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,890,976 (GRCm39)	E1051D	probably benign	Het
Thoc2l	A	G	5: 104,665,700 (GRCm39)	D74G	probably benign	Het
Tlr2	T	C	3: 83,745,516 (GRCm39)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,483,947 (GRCm39)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,016 (GRCm39)	H745R	probably benign	Het
Trappc14	A	G	5: 138,258,603 (GRCm39)	V548A	possibly damaging	Het
Ube2s	T	C	7: 4,814,554 (GRCm39)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,935,697 (GRCm39)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,049,785 (GRCm39)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,207,330 (GRCm39)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,386,939 (GRCm39)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zfp958	A	T	8: 4,679,147 (GRCm39)	I391F	possibly 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
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
R9211:Bptf	UTSW	11	106,946,124 (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'- CAGTGCCACAGTTTCCTAGC -3'
(R):5'- TCCACCTTTATACCAACACTGAATG -3'

Sequencing Primer
(F):5'- ACAGTTTCCTAGCCGTGTCG -3'
(R):5'- TTTCAACTATAACAGTGGGCAGGC -3'

Posted On

2014-06-23