Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:Zfp629'

577294

Institutional Source

Beutler Lab

Gene Symbol

Zfp629

Ensembl Gene

ENSMUSG00000045639

Gene Name

zinc finger protein 629

Synonyms

9330199A09Rik

MMRRC Submission

045522-MU

Accession Numbers

Essential gene?

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

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127206203-127214969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127210201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 536 (E536G)

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 benign
Transcript: ENSMUST00000058038
AA Change: E536G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: E536G

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: E536G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: E536G

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: ENSMUST00000122066
AA Change: E536G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: E536G

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,441 (GRCm39)	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,738,412 (GRCm39)	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,055,837 (GRCm39)	R222W	probably damaging	Het
C2	G	A	17: 35,094,986 (GRCm39)	R250C	probably damaging	Het
Cdk15	A	G	1: 59,328,854 (GRCm39)	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,791,874 (GRCm39)	T2576A	possibly damaging	Het
Cfap61	C	T	2: 145,995,758 (GRCm39)	R1108C	probably benign	Het
Clca3a1	A	G	3: 144,733,188 (GRCm39)	S107P	possibly damaging	Het
Cplane1	A	G	15: 8,261,564 (GRCm39)	D2460G	probably damaging	Het
Cpsf1	A	G	15: 76,485,950 (GRCm39)	S407P	probably benign	Het
Crisp4	T	C	1: 18,192,962 (GRCm39)	T252A	probably damaging	Het
Ctbs	A	G	3: 146,164,573 (GRCm39)	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,186,874 (GRCm39)	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,503,650 (GRCm39)	I275T	possibly damaging	Het
Dcaf7	T	C	11: 105,944,561 (GRCm39)	V248A	probably benign	Het
Def8	T	C	8: 124,181,061 (GRCm39)	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,706,991 (GRCm39)	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,936,231 (GRCm39)	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720 (GRCm39)	S3307R	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Erf	A	T	7: 24,945,556 (GRCm39)	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,740,079 (GRCm39)	H47L	unknown	Het
Gm5591	C	T	7: 38,218,933 (GRCm39)	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 66,992,736 (GRCm39)		probably benign	Het
Guk1	T	C	11: 59,076,850 (GRCm39)	T78A	probably benign	Het
Hephl1	T	C	9: 15,009,347 (GRCm39)	T82A	probably damaging	Het
Htra4	A	G	8: 25,527,181 (GRCm39)	S205P	probably benign	Het
Jakmip2	T	C	18: 43,710,390 (GRCm39)	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,137,610 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Lrp2	C	A	2: 69,262,557 (GRCm39)	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,290,018 (GRCm39)	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,721,109 (GRCm39)	K646E	probably benign	Het
Mgam	T	C	6: 40,723,266 (GRCm39)	L457P	probably damaging	Het
Mink1	T	A	11: 70,500,455 (GRCm39)	S802T	probably benign	Het
Mrgprb5	C	T	7: 47,818,252 (GRCm39)	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,336,472 (GRCm39)	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,661,201 (GRCm39)	K51R	probably benign	Het
Myo1b	A	G	1: 51,803,065 (GRCm39)	F872S	possibly damaging	Het
Nbas	A	T	12: 13,443,499 (GRCm39)	T1185S	probably benign	Het
Oas1d	A	T	5: 121,058,054 (GRCm39)	I333L	probably benign	Het
Or10ak9	A	T	4: 118,726,019 (GRCm39)	I14F	possibly damaging	Het
Or4d10	A	G	19: 12,051,061 (GRCm39)	*312Q	probably null	Het
P2ry12	A	G	3: 59,124,632 (GRCm39)	*348Q	probably null	Het
Pik3cb	A	T	9: 98,928,711 (GRCm39)	V848E	probably damaging	Het
Plcz1	A	C	6: 139,959,312 (GRCm39)	S282A	possibly damaging	Het
Prss46	A	G	9: 110,679,189 (GRCm39)	D130G	probably damaging	Het
Pygl	T	C	12: 70,243,784 (GRCm39)	I644V	probably benign	Het
Ralgds	T	A	2: 28,435,901 (GRCm39)	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,712,767 (GRCm39)	D255G	probably benign	Het
Scaf4	T	C	16: 90,055,658 (GRCm39)	D133G	unknown	Het
Sdk1	G	A	5: 142,130,731 (GRCm39)	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,467,573 (GRCm39)	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,422,902 (GRCm39)	L207H	probably damaging	Het
Speer2	A	T	16: 69,654,965 (GRCm39)	S167T	possibly damaging	Het
Spock1	A	G	13: 57,583,898 (GRCm39)	I339T	unknown	Het
Srsf6	T	A	2: 162,776,636 (GRCm39)	S327T	unknown	Het
Syne1	T	A	10: 5,172,266 (GRCm39)	E5058D	probably benign	Het
Tcf19	A	G	17: 35,825,428 (GRCm39)	V243A	probably benign	Het
Tspan15	T	C	10: 62,029,734 (GRCm39)	D122G	probably benign	Het
Ttc17	C	T	2: 94,205,495 (GRCm39)	V284M	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,141,082 (GRCm39)	C360*	probably null	Het
Vmn1r181	A	C	7: 23,684,356 (GRCm39)	S274R	probably benign	Het
Xrcc5	T	C	1: 72,433,132 (GRCm39)		probably null	Het
Zfp277	C	T	12: 40,378,729 (GRCm39)	R376H	probably damaging	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
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'- CCGATATGAATCCTCTGGTGC -3'
(R):5'- TAAGTGCTCTGACTGTGGCAAG -3'

Sequencing Primer
(F):5'- AATCCTCTGGTGCTGCATGAAG -3'
(R):5'- GCAAGAGTTTCATTCGCAGC -3'

Posted On

2019-10-07