Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Zfp646'

367410

Institutional Source

Beutler Lab

Gene Symbol

Zfp646

Ensembl Gene

ENSMUSG00000049739

Gene Name

zinc finger protein 646

Synonyms

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127476081-127485168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127482649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1609 (S1609T)

Ref Sequence

ENSEMBL: ENSMUSP00000052641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000121394] [ENSMUST00000131000] [ENSMUST00000205300]

AlphaFold

Q6NV66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050383
AA Change: S1609T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: S1609T

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART
ZnF_C2H2	566	588	2.32e-1	SMART
ZnF_C2H2	606	628	6.32e-3	SMART
ZnF_C2H2	633	655	1.53e-1	SMART
low complexity region	737	750	N/A	INTRINSIC
low complexity region	786	797	N/A	INTRINSIC
ZnF_C2H2	806	828	2.17e-1	SMART
ZnF_C2H2	833	855	3.69e-4	SMART
ZnF_C2H2	866	889	1.16e-1	SMART
low complexity region	890	911	N/A	INTRINSIC
ZnF_C2H2	941	961	9.31e1	SMART
ZnF_C2H2	1035	1057	1.95e-3	SMART
ZnF_C2H2	1062	1084	3.39e-3	SMART
low complexity region	1149	1163	N/A	INTRINSIC
ZnF_C2H2	1170	1192	1.58e-3	SMART
ZnF_C2H2	1197	1219	5.42e-2	SMART
ZnF_C2H2	1225	1247	3.69e-4	SMART
ZnF_C2H2	1266	1286	5.12e1	SMART
ZnF_C2H2	1293	1315	3.69e-4	SMART
ZnF_C2H2	1333	1355	3.11e-2	SMART
ZnF_C2H2	1550	1572	5.9e-3	SMART
ZnF_C2H2	1640	1662	1.08e-1	SMART
ZnF_C2H2	1667	1689	4.11e-2	SMART
ZnF_C2H2	1695	1717	4.11e-2	SMART
ZnF_C2H2	1724	1746	1.45e-2	SMART
low complexity region	1751	1764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121394

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	38	268	3.91e-45	SMART
Tryp_SPc	300	520	9.95e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126662

SMART Domains

Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

Domain	Start	End	E-Value	Type
VKc	1	111	8.84e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131000

SMART Domains

Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205364

Predicted Effect

unknown
Transcript: ENSMUST00000206340
AA Change: S1389T

Meta Mutation Damage Score

0.0945

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	Het

Other mutations in Zfp646

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Zfp646	APN	7	127,478,302 (GRCm39)	missense	possibly damaging	0.91
IGL01669:Zfp646	APN	7	127,478,137 (GRCm39)	missense	probably benign
IGL02571:Zfp646	APN	7	127,478,584 (GRCm39)	missense	probably damaging	1.00
R0009:Zfp646	UTSW	7	127,479,903 (GRCm39)	missense	probably damaging	0.96
R0084:Zfp646	UTSW	7	127,480,476 (GRCm39)	missense	possibly damaging	0.86
R0140:Zfp646	UTSW	7	127,482,678 (GRCm39)	missense	probably benign	0.41
R0394:Zfp646	UTSW	7	127,482,434 (GRCm39)	missense	possibly damaging	0.85
R0571:Zfp646	UTSW	7	127,481,138 (GRCm39)	missense	probably damaging	0.96
R0924:Zfp646	UTSW	7	127,482,982 (GRCm39)	nonsense	probably null
R0930:Zfp646	UTSW	7	127,482,982 (GRCm39)	nonsense	probably null
R1219:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1221:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1351:Zfp646	UTSW	7	127,482,683 (GRCm39)	missense	probably benign
R1370:Zfp646	UTSW	7	127,479,036 (GRCm39)	missense	probably damaging	1.00
R1503:Zfp646	UTSW	7	127,479,308 (GRCm39)	missense	probably damaging	1.00
R1605:Zfp646	UTSW	7	127,479,359 (GRCm39)	splice site	probably null
R1817:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1818:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1819:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1838:Zfp646	UTSW	7	127,478,911 (GRCm39)	missense	probably damaging	1.00
R1870:Zfp646	UTSW	7	127,483,021 (GRCm39)	missense	possibly damaging	0.85
R2100:Zfp646	UTSW	7	127,481,359 (GRCm39)	missense	probably damaging	1.00
R2763:Zfp646	UTSW	7	127,479,210 (GRCm39)	nonsense	probably null
R4346:Zfp646	UTSW	7	127,478,681 (GRCm39)	missense	probably damaging	1.00
R4824:Zfp646	UTSW	7	127,482,907 (GRCm39)	missense	probably benign	0.00
R4936:Zfp646	UTSW	7	127,480,933 (GRCm39)	missense	possibly damaging	0.93
R4937:Zfp646	UTSW	7	127,478,354 (GRCm39)	missense	probably benign	0.01
R5062:Zfp646	UTSW	7	127,479,671 (GRCm39)	missense	probably damaging	0.99
R5424:Zfp646	UTSW	7	127,481,875 (GRCm39)	missense	possibly damaging	0.72
R5610:Zfp646	UTSW	7	127,478,530 (GRCm39)	missense	probably damaging	1.00
R5729:Zfp646	UTSW	7	127,484,626 (GRCm39)	missense	probably damaging	0.99
R6112:Zfp646	UTSW	7	127,478,190 (GRCm39)	missense	possibly damaging	0.71
R6161:Zfp646	UTSW	7	127,477,897 (GRCm39)	missense	probably damaging	1.00
R6310:Zfp646	UTSW	7	127,483,079 (GRCm39)	missense	probably benign	0.13
R6331:Zfp646	UTSW	7	127,482,853 (GRCm39)	missense	probably damaging	0.99
R6436:Zfp646	UTSW	7	127,479,113 (GRCm39)	missense	probably benign	0.00
R6814:Zfp646	UTSW	7	127,482,505 (GRCm39)	missense	probably benign	0.17
R6872:Zfp646	UTSW	7	127,482,505 (GRCm39)	missense	probably benign	0.17
R6903:Zfp646	UTSW	7	127,479,892 (GRCm39)	missense	possibly damaging	0.91
R7018:Zfp646	UTSW	7	127,481,494 (GRCm39)	missense	probably benign
R7049:Zfp646	UTSW	7	127,479,199 (GRCm39)	missense	possibly damaging	0.93
R7121:Zfp646	UTSW	7	127,478,944 (GRCm39)	missense	possibly damaging	0.95
R7405:Zfp646	UTSW	7	127,477,968 (GRCm39)	nonsense	probably null
R8345:Zfp646	UTSW	7	127,483,082 (GRCm39)	missense	probably benign	0.12
R8545:Zfp646	UTSW	7	127,484,662 (GRCm39)	missense	probably benign
R8909:Zfp646	UTSW	7	127,478,515 (GRCm39)	missense	probably damaging	0.99
R8983:Zfp646	UTSW	7	127,480,777 (GRCm39)	missense	probably benign
R9001:Zfp646	UTSW	7	127,478,856 (GRCm39)	missense	probably damaging	0.96
R9018:Zfp646	UTSW	7	127,478,243 (GRCm39)	missense	probably benign
R9118:Zfp646	UTSW	7	127,480,810 (GRCm39)	missense
R9414:Zfp646	UTSW	7	127,481,050 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp646	UTSW	7	127,479,804 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTGAATCCTGTGACCACTGAGATC -3'
(R):5'- TAGAGTCCAATGGTGTGGGC -3'

Sequencing Primer
(F):5'- ACTACTGCCCAGCGCTTTG -3'
(R):5'- CCAATGGTGTGGGCCTTCTG -3'

Posted On

2015-12-29