Mutagenetix > Incidental Mutations

Incidental Mutation 'R7122:Zfp629'

552079

Institutional Source

Beutler Lab

Gene Symbol

Zfp629

Ensembl Gene

ENSMUSG00000045639

Gene Name

zinc finger protein 629

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127607031-127615797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127611312 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 442 (S442T)

Ref Sequence

ENSEMBL: ENSMUSP00000053760 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058038
AA Change: S442T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: S442T

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: S442T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: S442T

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: S442T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: S442T

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: 99.0%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,511,276	E126V	probably benign	Het
Alg3	A	T	16: 20,607,852	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,231,936	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,695,416	T72A	probably benign	Het
Aup1	A	G	6: 83,055,142	T97A	probably benign	Het
Bcl6	T	C	16: 23,972,902	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 180,065,018	L249P	probably damaging	Het
Celsr3	A	G	9: 108,828,567	K750E	possibly damaging	Het
Ces1g	C	A	8: 93,317,037	G425C	possibly damaging	Het
Chl1	T	C	6: 103,706,448	L745P	probably damaging	Het
Csmd2	G	A	4: 128,449,227	V1471M		Het
Dnah12	G	A	14: 26,778,912		probably null	Het
E330017A01Rik	C	A	16: 58,637,777	A54S	probably benign	Het
E4f1	G	A	17: 24,444,834	Q569*	probably null	Het
Fbxw24	A	T	9: 109,601,260	C439S	probably benign	Het
Gm11639	A	T	11: 105,008,961	I4350F	possibly damaging	Het
Gmip	C	T	8: 69,817,802	P721S	probably benign	Het
Grip1	A	G	10: 120,035,374	I669V	possibly damaging	Het
Gsn	A	T	2: 35,295,049	K339*	probably null	Het
Herc1	G	T	9: 66,399,774	A959S	possibly damaging	Het
Hic1	A	G	11: 75,169,230	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,473,358	V69G	unknown	Het
Jak3	T	A	8: 71,685,957	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,428,317	V530I	probably damaging	Het
Kif22	G	A	7: 127,032,978	R345C	probably benign	Het
Klhl7	G	A	5: 24,138,435	E250K	probably damaging	Het
Klk1b4	A	G	7: 44,211,107	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,176,671	V140I	probably benign	Het
Lhx5	T	A	5: 120,436,345	M238K	probably benign	Het
Lin28b	A	T	10: 45,469,148	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,378,209	R18*	probably null	Het
Myct1	C	A	10: 5,604,492	H120N	probably damaging	Het
Nek1	A	T	8: 61,106,795	D984V	probably benign	Het
Nfu1	A	T	6: 87,009,881		probably benign	Het
Nipsnap1	A	T	11: 4,883,366		probably null	Het
Nlrp9c	A	G	7: 26,385,621	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,510,607	M520K	probably damaging	Het
Oacyl	A	G	18: 65,720,252	D143G	probably benign	Het
Obox5	A	G	7: 15,758,807	Y229C	probably damaging	Het
Olfr340	A	G	2: 36,452,690	Y35C	probably damaging	Het
Olfr347	G	A	2: 36,734,424	M34I	probably benign	Het
Olfr448	T	C	6: 42,897,090	V213A	probably damaging	Het
Olfr669	T	C	7: 104,939,198	L224P	probably damaging	Het
Otogl	C	T	10: 107,866,654	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,486,513	N452T	probably benign	Het
Pi16	A	G	17: 29,326,339	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,804,519	D58G	probably damaging	Het
Plpp4	G	T	7: 129,379,483	V153F	unknown	Het
Plxna2	C	A	1: 194,644,568	S270*	probably null	Het
Pole	T	A	5: 110,325,102		probably null	Het
Prmt7	T	C	8: 106,235,100	F215S	unknown	Het
Ptpn21	C	T	12: 98,688,912	V599I	probably damaging	Het
Rab26	C	A	17: 24,530,678	R131L	probably damaging	Het
Raph1	A	T	1: 60,525,977	V117D	probably benign	Het
Sacs	T	C	14: 61,210,396	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,066,942	A262S	probably benign	Het
Sgf29	A	G	7: 126,672,049	D193G	probably null	Het
Sh3rf2	G	A	18: 42,104,162		probably null	Het
Sipa1l1	T	C	12: 82,422,462	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,438,298	L31P	probably damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,693,301	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318	R225*	probably null	Het
Suz12	T	A	11: 79,993,593	F92I	probably damaging	Het
Tmem114	C	A	16: 8,424,746		probably benign	Het
Tmem68	A	G	4: 3,564,107	V159A	probably benign	Het
Tpra1	T	A	6: 88,908,294	I76N	probably damaging	Het
Trim45	A	G	3: 100,932,037	T752A	unknown	Het
Trp63	C	A	16: 25,820,477	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,460,396	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,014,762	K858N	possibly damaging	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
R4287:Zfp629	UTSW	7	127611938	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGGCTGAAACTCTTGCC -3'
(R):5'- GCACCAGAGGACACATTTGC -3'

Sequencing Primer
(F):5'- GGCTGAAACTCTTGCCACACTC -3'
(R):5'- TGTGGCAAGACCTTCACACTGAG -3'

Posted On

2019-05-15