Mutagenetix > Incidental Mutation

Incidental Mutation 'R4287:Zfp629'

322064

Institutional Source

Beutler Lab

Gene Symbol

Zfp629

Ensembl Gene

ENSMUSG00000045639

Gene Name

zinc finger protein 629

Synonyms

MMRRC Submission

041652-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127607031-127615797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127611938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 233 (Y233C)

Ref Sequence

ENSEMBL: ENSMUSP00000116375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058038] [ENSMUST00000084564] [ENSMUST00000122066] [ENSMUST00000128731] [ENSMUST00000131318] [ENSMUST00000132524] [ENSMUST00000134446] [ENSMUST00000151107] [ENSMUST00000152315]

AlphaFold

Q6A085

Predicted Effect

probably damaging
Transcript: ENSMUST00000058038
AA Change: Y233C

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

SMART Domains

Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: Y233C

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
ZnF_C2H2	149	171	4.01e-5	SMART
ZnF_C2H2	177	199	2.09e-3	SMART
ZnF_C2H2	205	227	6.08e-5	SMART
ZnF_C2H2	233	255	2.99e-4	SMART
ZnF_C2H2	261	283	1.45e-2	SMART
ZnF_C2H2	289	311	1.13e-4	SMART
ZnF_C2H2	317	339	9.88e-5	SMART
ZnF_C2H2	345	367	9.73e-4	SMART
ZnF_C2H2	373	395	9.22e-5	SMART
ZnF_C2H2	401	423	6.08e-5	SMART
ZnF_C2H2	429	451	7.78e-3	SMART
ZnF_C2H2	457	479	3.95e-4	SMART
ZnF_C2H2	485	507	1.15e-5	SMART
ZnF_C2H2	513	535	2.91e-2	SMART
ZnF_C2H2	568	590	9.58e-3	SMART
ZnF_C2H2	661	683	3.16e-3	SMART
ZnF_C2H2	713	735	9.73e-4	SMART
low complexity region	737	754	N/A	INTRINSIC
ZnF_C2H2	766	788	2.57e-3	SMART
ZnF_C2H2	840	862	1.14e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084564
AA Change: Y233C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: Y233C

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
ZnF_C2H2	149	171	4.01e-5	SMART
ZnF_C2H2	177	199	2.09e-3	SMART
ZnF_C2H2	205	227	6.08e-5	SMART
ZnF_C2H2	233	255	2.99e-4	SMART
ZnF_C2H2	261	283	1.45e-2	SMART
ZnF_C2H2	289	311	1.13e-4	SMART
ZnF_C2H2	317	339	9.88e-5	SMART
ZnF_C2H2	345	367	9.73e-4	SMART
ZnF_C2H2	373	395	9.22e-5	SMART
ZnF_C2H2	401	423	6.08e-5	SMART
ZnF_C2H2	429	451	7.78e-3	SMART
ZnF_C2H2	457	479	3.95e-4	SMART
ZnF_C2H2	485	507	1.15e-5	SMART
ZnF_C2H2	513	535	2.91e-2	SMART
ZnF_C2H2	568	590	9.58e-3	SMART
ZnF_C2H2	661	683	3.16e-3	SMART
ZnF_C2H2	713	735	9.73e-4	SMART
low complexity region	737	754	N/A	INTRINSIC
ZnF_C2H2	766	788	2.57e-3	SMART
ZnF_C2H2	840	862	1.14e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122066
AA Change: Y233C

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

SMART Domains

Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: Y233C

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
ZnF_C2H2	149	171	4.01e-5	SMART
ZnF_C2H2	177	199	2.09e-3	SMART
ZnF_C2H2	205	227	6.08e-5	SMART
ZnF_C2H2	233	255	2.99e-4	SMART
ZnF_C2H2	261	283	1.45e-2	SMART
ZnF_C2H2	289	311	1.13e-4	SMART
ZnF_C2H2	317	339	9.88e-5	SMART
ZnF_C2H2	345	367	9.73e-4	SMART
ZnF_C2H2	373	395	9.22e-5	SMART
ZnF_C2H2	401	423	6.08e-5	SMART
ZnF_C2H2	429	451	7.78e-3	SMART
ZnF_C2H2	457	479	3.95e-4	SMART
ZnF_C2H2	485	507	1.15e-5	SMART
ZnF_C2H2	513	535	2.91e-2	SMART
ZnF_C2H2	568	590	9.58e-3	SMART
ZnF_C2H2	661	683	3.16e-3	SMART
ZnF_C2H2	713	735	9.73e-4	SMART
low complexity region	737	754	N/A	INTRINSIC
ZnF_C2H2	766	788	2.57e-3	SMART
ZnF_C2H2	840	862	1.14e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128731

SMART Domains

Protein: ENSMUSP00000140505
Gene: ENSMUSG00000045639

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131318
AA Change: Y233C

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

SMART Domains

Protein: ENSMUSP00000116375
Gene: ENSMUSG00000045639
AA Change: Y233C

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
ZnF_C2H2	149	171	4.01e-5	SMART
ZnF_C2H2	177	199	2.09e-3	SMART
ZnF_C2H2	205	227	6.08e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132524

Predicted Effect

probably benign
Transcript: ENSMUST00000134446

Predicted Effect

probably benign
Transcript: ENSMUST00000151107

Predicted Effect

probably benign
Transcript: ENSMUST00000152315

SMART Domains

Protein: ENSMUSP00000114772
Gene: ENSMUSG00000045639

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
ZnF_C2H2	149	171	4.01e-5	SMART
ZnF_C2H2	177	195	1.24e2	SMART

Meta Mutation Damage Score

0.4074

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,800,601	V362A	probably benign	Het
Ash1l	T	A	3: 89,066,415	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,418	Q303K	probably benign	Het
Cog1	A	G	11: 113,654,027	Y345C	probably damaging	Het
Fpgt	T	C	3: 155,091,360		probably benign	Het
Glrb	A	T	3: 80,845,232	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,400,398		noncoding transcript	Het
Il1rn	T	C	2: 24,349,545	L151P	probably damaging	Het
Itgav	G	T	2: 83,724,840	E36*	probably null	Het
Kidins220	G	A	12: 25,056,846	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra3	A	G	6: 130,334,302	C39R	probably benign	Het
Lce1i	A	G	3: 92,777,435	S145P	unknown	Het
Memo1	T	C	17: 74,255,298		probably null	Het
Mpp3	G	A	11: 102,023,463	A102V	probably damaging	Het
Mug2	T	A	6: 122,063,673	D727E	probably benign	Het
Ndufb8	T	C	19: 44,552,691	I107V	probably benign	Het
Olfr186	A	T	16: 59,027,613	M98K	probably benign	Het
Pnn	C	T	12: 59,072,170	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,861,422	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,725,009	V1037M	probably damaging	Het
Rreb1	A	T	13: 37,931,931	T1089S	probably benign	Het
Rrs1	C	T	1: 9,546,215	S231L	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,777,333	D838G	probably benign	Het
Setbp1	T	C	18: 78,859,061	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc41a3	A	T	6: 90,640,922	H310L	probably benign	Het
Smurf1	A	G	5: 144,891,458	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,704,898	S10P	probably benign	Het
Tomm70a	T	G	16: 57,140,622	Y313D	probably damaging	Het
Umodl1	A	G	17: 30,988,065	E810G	probably benign	Het
Unc5c	T	C	3: 141,714,674	I52T	probably damaging	Het
Unc5d	T	A	8: 28,719,796	Y432F	probably benign	Het
Vmn2r97	A	T	17: 18,948,075		probably benign	Het
Zfp986	T	C	4: 145,892,518		probably null	Het

Other mutations in Zfp629

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Zfp629	APN	7	127612724	missense	probably damaging	0.97
IGL01541:Zfp629	APN	7	127612745	utr 5 prime	probably benign
IGL02116:Zfp629	APN	7	127612718	missense	probably damaging	1.00
IGL02134:Zfp629	APN	7	127611870	missense	probably benign	0.22
IGL02547:Zfp629	APN	7	127611674	splice site	probably null
IGL02858:Zfp629	APN	7	127610312	missense	probably damaging	1.00
IGL02867:Zfp629	APN	7	127610031	unclassified	probably benign
IGL02889:Zfp629	APN	7	127610031	unclassified	probably benign
R6768_Zfp629_044	UTSW	7	127610825	missense	probably benign	0.03
R0020:Zfp629	UTSW	7	127611169	missense	probably benign	0.02
R0137:Zfp629	UTSW	7	127611686	missense	probably damaging	1.00
R0219:Zfp629	UTSW	7	127612083	missense	probably damaging	1.00
R1061:Zfp629	UTSW	7	127611989	missense	probably damaging	1.00
R1182:Zfp629	UTSW	7	127610102	missense	probably damaging	1.00
R1187:Zfp629	UTSW	7	127610229	missense	probably benign
R1187:Zfp629	UTSW	7	127611887	missense	probably damaging	1.00
R1217:Zfp629	UTSW	7	127612744	start gained	probably benign
R1507:Zfp629	UTSW	7	127611861	nonsense	probably null
R1526:Zfp629	UTSW	7	127610759	missense	possibly damaging	0.69
R1622:Zfp629	UTSW	7	127611840	missense	probably damaging	1.00
R1704:Zfp629	UTSW	7	127610864	missense	probably benign	0.06
R1918:Zfp629	UTSW	7	127612000	missense	probably damaging	1.00
R2147:Zfp629	UTSW	7	127610444	missense	probably damaging	1.00
R2156:Zfp629	UTSW	7	127612379	missense	probably benign	0.00
R2258:Zfp629	UTSW	7	127611791	missense	probably damaging	1.00
R2994:Zfp629	UTSW	7	127611056	missense	probably damaging	0.99
R3735:Zfp629	UTSW	7	127612778	splice site	probably benign
R4610:Zfp629	UTSW	7	127612320	missense	probably benign	0.26
R4758:Zfp629	UTSW	7	127610586	missense	probably damaging	1.00
R4899:Zfp629	UTSW	7	127611018	missense	possibly damaging	0.69
R4922:Zfp629	UTSW	7	127612127	missense	probably damaging	1.00
R5414:Zfp629	UTSW	7	127611282	missense	probably damaging	0.97
R5772:Zfp629	UTSW	7	127611135	missense	probably damaging	1.00
R5907:Zfp629	UTSW	7	127610370	missense	probably damaging	1.00
R6768:Zfp629	UTSW	7	127610825	missense	probably benign	0.03
R7122:Zfp629	UTSW	7	127611312	missense	probably damaging	0.99
R7156:Zfp629	UTSW	7	127612291	nonsense	probably null
R7407:Zfp629	UTSW	7	127610243	missense	probably benign
R7446:Zfp629	UTSW	7	127611029	missense	probably benign	0.00
R7780:Zfp629	UTSW	7	127612429	missense	probably benign	0.12
R7871:Zfp629	UTSW	7	127611995	missense	probably damaging	1.00
R8542:Zfp629	UTSW	7	127611192	nonsense	probably null
R9095:Zfp629	UTSW	7	127610375	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTTGTAGGGCTTCTCACCTG -3'
(R):5'- TTAGCCAGTGGTCCAAACTGC -3'

Sequencing Primer
(F):5'- AGGGCTTCTCACCTGTGTGC -3'
(R):5'- TGGTCCAAACTGCTGCGG -3'

Posted On

2015-06-20