Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Zfp629'

33730

Institutional Source

Beutler Lab

Gene Symbol

Zfp629

Ensembl Gene

ENSMUSG00000045639

Gene Name

zinc finger protein 629

Synonyms

9330199A09Rik

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R0219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127206203-127214969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127211255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 185 (S185G)

Ref Sequence

ENSEMBL: ENSMUSP00000114772 (fasta)

Gene Model

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

AlphaFold

Q6A085

Predicted Effect

probably damaging
Transcript: ENSMUST00000058038
AA Change: S185G

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

SMART Domains

Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: S185G

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: ENSMUST00000084564
AA Change: S185G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: S185G

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: S185G

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

SMART Domains

Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: S185G

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: S185G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116375
Gene: ENSMUSG00000045639
AA Change: S185G

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 damaging
Transcript: ENSMUST00000152315
AA Change: S185G

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

SMART Domains

Protein: ENSMUSP00000114772
Gene: ENSMUSG00000045639
AA Change: S185G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151107

Meta Mutation Damage Score

0.1304

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,849,885 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,371,005 (GRCm39)	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,958,906 (GRCm39)		probably benign	Het
Ankle2	C	T	5: 110,399,511 (GRCm39)	R624*	probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Brca2	A	G	5: 150,446,640 (GRCm39)		probably benign	Het
Ccdc116	T	A	16: 16,959,476 (GRCm39)	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,614,678 (GRCm39)		probably benign	Het
Ccdc80	A	G	16: 44,916,846 (GRCm39)	K534R	probably damaging	Het
Ccna1	T	C	3: 54,958,348 (GRCm39)	I112V	probably benign	Het
Cdhr1	A	C	14: 36,801,558 (GRCm39)	L795R	possibly damaging	Het
Cilp	C	A	9: 65,176,872 (GRCm39)	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,720,976 (GRCm39)		probably benign	Het
Ddx59	C	A	1: 136,360,047 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,865,996 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,658,384 (GRCm39)		probably null	Het
Dst	T	G	1: 34,342,559 (GRCm39)	S5030A	probably damaging	Het
Dysf	G	A	6: 84,106,443 (GRCm39)		probably benign	Het
Farp1	C	A	14: 121,481,012 (GRCm39)	P471Q	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,058,795 (GRCm39)	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,717,618 (GRCm39)	V21A	probably benign	Het
Gm9912	T	C	3: 148,891,131 (GRCm39)	I1V	unknown	Het
Guf1	G	A	5: 69,716,929 (GRCm39)	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,475,876 (GRCm39)	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,066,474 (GRCm39)		probably benign	Het
Iglon5	A	T	7: 43,126,261 (GRCm39)	V214E	probably damaging	Het
Isx	C	A	8: 75,616,589 (GRCm39)		probably null	Het
Kank4	T	C	4: 98,666,702 (GRCm39)	N582D	probably benign	Het
Kcp	T	A	6: 29,495,784 (GRCm39)	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,291,857 (GRCm39)	C825R	probably damaging	Het
Krt25	G	A	11: 99,208,885 (GRCm39)	T315M	probably benign	Het
Lrp5	A	T	19: 3,647,349 (GRCm39)	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,356,156 (GRCm39)	D921G	probably damaging	Het
Mrgprx1	C	A	7: 47,671,294 (GRCm39)	W151L	probably damaging	Het
Mylk3	T	A	8: 86,081,873 (GRCm39)	D375V	probably damaging	Het
Nav3	C	T	10: 109,702,791 (GRCm39)		probably null	Het
Ncan	A	G	8: 70,567,984 (GRCm39)	S43P	probably benign	Het
Necab3	G	T	2: 154,388,013 (GRCm39)	Q292K	probably benign	Het
Nptx2	T	C	5: 144,484,950 (GRCm39)	S148P	probably damaging	Het
Or2at4	A	T	7: 99,385,135 (GRCm39)	I262L	probably benign	Het
Or6p1	G	A	1: 174,258,032 (GRCm39)	V13I	probably benign	Het
Pde6a	A	G	18: 61,419,006 (GRCm39)	E794G	possibly damaging	Het
Pus7	T	C	5: 23,980,964 (GRCm39)	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,496,508 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,603 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,424 (GRCm39)	A78S	probably benign	Het
Shkbp1	T	C	7: 27,051,486 (GRCm39)	E191G	probably benign	Het
Slc6a18	A	T	13: 73,822,751 (GRCm39)		probably null	Het
Stxbp5	T	C	10: 9,646,272 (GRCm39)	T147A	probably benign	Het
Sv2b	A	G	7: 74,807,015 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,088,778 (GRCm39)	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,773,347 (GRCm39)	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,476,820 (GRCm39)	V814A	probably damaging	Het
Togaram2	T	C	17: 72,021,225 (GRCm39)		probably benign	Het
Tpr	T	C	1: 150,319,009 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,730,572 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,157,568 (GRCm39)	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,600,537 (GRCm39)	E1987G	probably damaging	Het
Utrn	T	C	10: 12,560,195 (GRCm39)	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,605,072 (GRCm39)	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,411,734 (GRCm39)	V278A	probably damaging	Het
Vps13d	C	T	4: 144,832,479 (GRCm39)	S2809N	probably benign	Het
Zfp212	G	A	6: 47,903,619 (GRCm39)	R68H	probably damaging	Het
Zfp442	A	T	2: 150,253,160 (GRCm39)	L33Q	probably damaging	Het
Zfp738	A	G	13: 67,831,508 (GRCm39)		probably benign	Het

Other mutations in Zfp629

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Zfp629	APN	7	127,211,896 (GRCm39)	missense	probably damaging	0.97
IGL01541:Zfp629	APN	7	127,211,917 (GRCm39)	utr 5 prime	probably benign
IGL02116:Zfp629	APN	7	127,211,890 (GRCm39)	missense	probably damaging	1.00
IGL02134:Zfp629	APN	7	127,211,042 (GRCm39)	missense	probably benign	0.22
IGL02547:Zfp629	APN	7	127,210,846 (GRCm39)	splice site	probably null
IGL02858:Zfp629	APN	7	127,209,484 (GRCm39)	missense	probably damaging	1.00
IGL02867:Zfp629	APN	7	127,209,203 (GRCm39)	unclassified	probably benign
IGL02889:Zfp629	APN	7	127,209,203 (GRCm39)	unclassified	probably benign
R6768_Zfp629_044	UTSW	7	127,209,997 (GRCm39)	missense	probably benign	0.03
R0020:Zfp629	UTSW	7	127,210,341 (GRCm39)	missense	probably benign	0.02
R0137:Zfp629	UTSW	7	127,210,858 (GRCm39)	missense	probably damaging	1.00
R1061:Zfp629	UTSW	7	127,211,161 (GRCm39)	missense	probably damaging	1.00
R1182:Zfp629	UTSW	7	127,209,274 (GRCm39)	missense	probably damaging	1.00
R1187:Zfp629	UTSW	7	127,209,401 (GRCm39)	missense	probably benign
R1187:Zfp629	UTSW	7	127,211,059 (GRCm39)	missense	probably damaging	1.00
R1217:Zfp629	UTSW	7	127,211,916 (GRCm39)	start gained	probably benign
R1507:Zfp629	UTSW	7	127,211,033 (GRCm39)	nonsense	probably null
R1526:Zfp629	UTSW	7	127,209,931 (GRCm39)	missense	possibly damaging	0.69
R1622:Zfp629	UTSW	7	127,211,012 (GRCm39)	missense	probably damaging	1.00
R1704:Zfp629	UTSW	7	127,210,036 (GRCm39)	missense	probably benign	0.06
R1918:Zfp629	UTSW	7	127,211,172 (GRCm39)	missense	probably damaging	1.00
R2147:Zfp629	UTSW	7	127,209,616 (GRCm39)	missense	probably damaging	1.00
R2156:Zfp629	UTSW	7	127,211,551 (GRCm39)	missense	probably benign	0.00
R2258:Zfp629	UTSW	7	127,210,963 (GRCm39)	missense	probably damaging	1.00
R2994:Zfp629	UTSW	7	127,210,228 (GRCm39)	missense	probably damaging	0.99
R3735:Zfp629	UTSW	7	127,211,950 (GRCm39)	splice site	probably benign
R4287:Zfp629	UTSW	7	127,211,110 (GRCm39)	missense	probably damaging	1.00
R4610:Zfp629	UTSW	7	127,211,492 (GRCm39)	missense	probably benign	0.26
R4758:Zfp629	UTSW	7	127,209,758 (GRCm39)	missense	probably damaging	1.00
R4899:Zfp629	UTSW	7	127,210,190 (GRCm39)	missense	possibly damaging	0.69
R4922:Zfp629	UTSW	7	127,211,299 (GRCm39)	missense	probably damaging	1.00
R5414:Zfp629	UTSW	7	127,210,454 (GRCm39)	missense	probably damaging	0.97
R5772:Zfp629	UTSW	7	127,210,307 (GRCm39)	missense	probably damaging	1.00
R5907:Zfp629	UTSW	7	127,209,542 (GRCm39)	missense	probably damaging	1.00
R6768:Zfp629	UTSW	7	127,209,997 (GRCm39)	missense	probably benign	0.03
R7122:Zfp629	UTSW	7	127,210,484 (GRCm39)	missense	probably damaging	0.99
R7156:Zfp629	UTSW	7	127,211,463 (GRCm39)	nonsense	probably null
R7407:Zfp629	UTSW	7	127,209,415 (GRCm39)	missense	probably benign
R7446:Zfp629	UTSW	7	127,210,201 (GRCm39)	missense	probably benign	0.00
R7780:Zfp629	UTSW	7	127,211,601 (GRCm39)	missense	probably benign	0.12
R7871:Zfp629	UTSW	7	127,211,167 (GRCm39)	missense	probably damaging	1.00
R8542:Zfp629	UTSW	7	127,210,364 (GRCm39)	nonsense	probably null
R9095:Zfp629	UTSW	7	127,209,547 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATGAAACTCTTGCCGCACTC -3'
(R):5'- GGAACAGCACACCTGTAGTCACTG -3'

Sequencing Primer
(F):5'- TGCAGCGATAGGGCTTCTC -3'
(R):5'- TGCCAGTGAACCCAGCC -3'

Posted On

2013-05-09