Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Zfp629'

691293

Institutional Source

Beutler Lab

Gene Symbol

Zfp629

Ensembl Gene

ENSMUSG00000045639

Gene Name

zinc finger protein 629

Synonyms

9330199A09Rik

MMRRC Submission

068910-MU

Accession Numbers

Essential gene?

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

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127206203-127214969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127209547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 754 (L754Q)

Ref Sequence

ENSEMBL: ENSMUSP00000053760 (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: L754Q

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

SMART Domains

Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: L754Q

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: ENSMUST00000084564
AA Change: L754Q

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

SMART Domains

Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: L754Q

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: L754Q

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

SMART Domains

Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: L754Q

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 benign
Transcript: ENSMUST00000131318

SMART Domains

Protein: ENSMUSP00000116375
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	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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,500,370 (GRCm39)	V1274M	probably damaging	Het
Abca4	A	G	3: 121,967,556 (GRCm39)	H2202R	possibly damaging	Het
Ablim3	A	G	18: 61,953,463 (GRCm39)	L350P	probably benign	Het
Adamts17	C	T	7: 66,654,117 (GRCm39)	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,586,241 (GRCm39)	D9V	probably benign	Het
Arhgef7	T	C	8: 11,835,819 (GRCm39)	V192A	probably damaging	Het
Art4	C	T	6: 136,834,269 (GRCm39)		probably benign	Het
Atg4a-ps	A	T	3: 103,553,254 (GRCm39)	V29E	possibly damaging	Het
Ccdc180	A	T	4: 45,949,466 (GRCm39)	K1574*	probably null	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Clip2	C	T	5: 134,532,254 (GRCm39)	R517H	possibly damaging	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Cpne1	T	A	2: 155,918,210 (GRCm39)		probably null	Het
Csnk2a1-ps3	A	T	1: 156,352,213 (GRCm39)	Y138F	probably benign	Het
Cyp2f2	T	A	7: 26,830,667 (GRCm39)	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,755,748 (GRCm39)		probably null	Het
Ddi2	T	A	4: 141,419,590 (GRCm39)	I387F	probably benign	Het
Dsg1b	A	G	18: 20,523,282 (GRCm39)	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,156,666 (GRCm39)	I1464V	probably benign	Het
Epha2	A	G	4: 141,044,012 (GRCm39)	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,782,964 (GRCm39)	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,188,733 (GRCm39)	I488L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fn1	A	C	1: 71,647,149 (GRCm39)	I1547S	probably null	Het
Garre1	A	T	7: 33,956,770 (GRCm39)		probably null	Het
Get1	T	A	16: 95,954,244 (GRCm39)		probably benign	Het
Gm14305	T	A	2: 176,413,045 (GRCm39)	Y312*	probably null	Het
Golm2	T	A	2: 121,756,096 (GRCm39)	L375Q	probably damaging	Het
Gpihbp1	A	G	15: 75,469,641 (GRCm39)	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,542,980 (GRCm39)	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,321,494 (GRCm39)	A82S	probably benign	Het
Itpr1	T	A	6: 108,364,352 (GRCm39)	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,525,801 (GRCm39)	G17D	unknown	Het
Ly6a	A	T	15: 74,867,333 (GRCm39)		probably benign	Het
Mad1l1	C	T	5: 140,288,741 (GRCm39)	E203K	probably damaging	Het
Mapk14	C	A	17: 28,934,413 (GRCm39)	D101E	probably benign	Het
Meis3	G	T	7: 15,917,764 (GRCm39)	G306W	probably damaging	Het
Mixl1	T	C	1: 180,524,402 (GRCm39)	D59G	probably benign	Het
Nav2	G	A	7: 49,254,293 (GRCm39)	V2364M	probably damaging	Het
Nell1	T	C	7: 50,506,150 (GRCm39)	S786P	possibly damaging	Het
Or13a25	T	G	7: 140,247,813 (GRCm39)	N197K	probably damaging	Het
Or51e2	C	A	7: 102,391,473 (GRCm39)	V246L	possibly damaging	Het
Or51g1	A	G	7: 102,633,687 (GRCm39)	L228P	probably damaging	Het
Or5b107	T	G	19: 13,143,310 (GRCm39)	S311A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,052 (GRCm39)	D374V	probably damaging	Het
Phactr2	A	G	10: 13,129,386 (GRCm39)	I294T	probably benign	Het
Plekha4	C	T	7: 45,190,492 (GRCm39)	A400V	probably damaging	Het
Pramel21	T	C	4: 143,341,760 (GRCm39)	F63S	probably damaging	Het
Pramel4	C	A	4: 143,794,928 (GRCm39)	D441E	probably benign	Het
Prr12	G	A	7: 44,695,267 (GRCm39)	P1400S	unknown	Het
Prss3b	T	A	6: 41,010,038 (GRCm39)	N99Y	possibly damaging	Het
Rbm6	G	A	9: 107,669,089 (GRCm39)	Q608*	probably null	Het
Scamp1	T	A	13: 94,369,598 (GRCm39)	I76F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,158,077 (GRCm39)	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,019,404 (GRCm39)	K336R	probably benign	Het
Spag17	G	T	3: 99,912,092 (GRCm39)	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,259,620 (GRCm39)	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,519,525 (GRCm39)	K321R	probably damaging	Het
Stac3	T	C	10: 127,343,584 (GRCm39)	F242S	probably damaging	Het
Tanc2	T	G	11: 105,758,104 (GRCm39)	S622A	probably benign	Het
Tcf4	G	A	18: 69,598,464 (GRCm39)	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,433,571 (GRCm39)	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,187,509 (GRCm39)	W125*	probably null	Het
Tjp1	T	C	7: 64,952,745 (GRCm39)	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,844,412 (GRCm39)	H62L	probably benign	Het
Tmem89	T	C	9: 108,743,729 (GRCm39)	S10P	unknown	Het
Trrap	C	T	5: 144,733,961 (GRCm39)	P938L	probably damaging	Het
Unc80	C	A	1: 66,545,912 (GRCm39)	P488T	probably damaging	Het
Uri1	C	A	7: 37,662,873 (GRCm39)	G374C	probably damaging	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vcan	G	T	13: 89,852,644 (GRCm39)	T772K	probably benign	Het
Zbtb37	A	T	1: 160,847,941 (GRCm39)	Y355*	probably null	Het
Zfp3	A	G	11: 70,662,405 (GRCm39)	I121M	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
R0219:Zfp629	UTSW	7	127,211,255 (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

Predicted Primers

PCR Primer
(F):5'- CATCTTCCTGGTTTGTGGACAATG -3'
(R):5'- ATCAGCTCACTCACGGGAATG -3'

Sequencing Primer
(F):5'- CAATGTGGCTGACTCTGAAGG -3'
(R):5'- GGGAATGAAAAGCCCTTTCTC -3'

Posted On

2021-12-30