Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Zfc3h1'

369812

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115220864-115268677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115251599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1304 (S1304G)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036044]

AlphaFold

B2RT41

Predicted Effect

probably benign
Transcript: ENSMUST00000036044
AA Change: S1304G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: S1304G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	29	90	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
low complexity region	143	214	N/A	INTRINSIC
coiled coil region	361	393	N/A	INTRINSIC
low complexity region	399	432	N/A	INTRINSIC
coiled coil region	436	491	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	564	583	N/A	INTRINSIC
low complexity region	595	619	N/A	INTRINSIC
low complexity region	623	636	N/A	INTRINSIC
low complexity region	716	729	N/A	INTRINSIC
low complexity region	752	763	N/A	INTRINSIC
coiled coil region	826	889	N/A	INTRINSIC
coiled coil region	968	1000	N/A	INTRINSIC
low complexity region	1001	1015	N/A	INTRINSIC
Pfam:zf-C3H1	1187	1208	1.3e-11	PFAM
HAT	1384	1416	1.11e0	SMART
HAT	1418	1449	4.35e2	SMART
Blast:HAT	1495	1538	2e-9	BLAST
HAT	1653	1685	3.31e1	SMART
HAT	1762	1797	7.03e1	SMART
HAT	1922	1954	1.29e-1	SMART
low complexity region	1975	1992	N/A	INTRINSIC

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Zfc3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00698:Zfc3h1	APN	10	115,255,737 (GRCm39)	missense	possibly damaging	0.92
IGL00793:Zfc3h1	APN	10	115,252,779 (GRCm39)	missense	probably benign	0.00
IGL01349:Zfc3h1	APN	10	115,259,353 (GRCm39)	missense	probably damaging	1.00
IGL01431:Zfc3h1	APN	10	115,259,128 (GRCm39)	missense	possibly damaging	0.49
IGL02273:Zfc3h1	APN	10	115,263,004 (GRCm39)	missense	probably benign
IGL02382:Zfc3h1	APN	10	115,252,781 (GRCm39)	nonsense	probably null
IGL02397:Zfc3h1	APN	10	115,243,890 (GRCm39)	missense	probably damaging	1.00
IGL02657:Zfc3h1	APN	10	115,247,859 (GRCm39)	missense	possibly damaging	0.48
IGL02826:Zfc3h1	APN	10	115,236,809 (GRCm39)	missense	probably benign	0.42
Gnatcatcher	UTSW	10	115,236,647 (GRCm39)	missense	probably benign	0.39
hutton	UTSW	10	115,251,153 (GRCm39)	missense	probably damaging	0.96
passerine	UTSW	10	115,249,916 (GRCm39)	missense	possibly damaging	0.56
R0178_Zfc3h1_655	UTSW	10	115,242,630 (GRCm39)	splice site	probably benign
vireo	UTSW	10	115,255,806 (GRCm39)	missense	probably benign	0.01
warbler	UTSW	10	115,242,388 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Zfc3h1	UTSW	10	115,226,794 (GRCm39)	missense	probably damaging	0.99
PIT4354001:Zfc3h1	UTSW	10	115,262,944 (GRCm39)	nonsense	probably null
R0062:Zfc3h1	UTSW	10	115,252,658 (GRCm39)	missense	probably benign	0.00
R0062:Zfc3h1	UTSW	10	115,252,658 (GRCm39)	missense	probably benign	0.00
R0067:Zfc3h1	UTSW	10	115,259,379 (GRCm39)	missense	possibly damaging	0.88
R0067:Zfc3h1	UTSW	10	115,259,379 (GRCm39)	missense	possibly damaging	0.88
R0104:Zfc3h1	UTSW	10	115,251,192 (GRCm39)	missense	possibly damaging	0.66
R0178:Zfc3h1	UTSW	10	115,242,630 (GRCm39)	splice site	probably benign
R0355:Zfc3h1	UTSW	10	115,245,018 (GRCm39)	missense	possibly damaging	0.80
R0619:Zfc3h1	UTSW	10	115,256,715 (GRCm39)	missense	possibly damaging	0.92
R0731:Zfc3h1	UTSW	10	115,246,537 (GRCm39)	missense	probably benign	0.00
R0828:Zfc3h1	UTSW	10	115,237,612 (GRCm39)	missense	possibly damaging	0.68
R0866:Zfc3h1	UTSW	10	115,263,621 (GRCm39)	missense	probably benign	0.00
R1196:Zfc3h1	UTSW	10	115,247,866 (GRCm39)	missense	probably damaging	0.99
R1455:Zfc3h1	UTSW	10	115,248,013 (GRCm39)	missense	probably benign	0.11
R1515:Zfc3h1	UTSW	10	115,252,647 (GRCm39)	missense	probably benign	0.29
R1617:Zfc3h1	UTSW	10	115,226,827 (GRCm39)	missense	probably benign	0.01
R1640:Zfc3h1	UTSW	10	115,242,806 (GRCm39)	splice site	probably null
R1959:Zfc3h1	UTSW	10	115,259,158 (GRCm39)	missense	probably benign	0.34
R2039:Zfc3h1	UTSW	10	115,242,388 (GRCm39)	missense	probably damaging	1.00
R3430:Zfc3h1	UTSW	10	115,246,428 (GRCm39)	splice site	probably benign
R3691:Zfc3h1	UTSW	10	115,256,595 (GRCm39)	missense	probably benign
R3909:Zfc3h1	UTSW	10	115,255,806 (GRCm39)	missense	probably benign	0.01
R4235:Zfc3h1	UTSW	10	115,254,704 (GRCm39)	missense	probably benign	0.32
R4684:Zfc3h1	UTSW	10	115,259,290 (GRCm39)	missense	probably benign	0.03
R4881:Zfc3h1	UTSW	10	115,236,647 (GRCm39)	missense	probably benign	0.39
R4883:Zfc3h1	UTSW	10	115,246,547 (GRCm39)	missense	probably damaging	1.00
R5038:Zfc3h1	UTSW	10	115,240,116 (GRCm39)	missense	probably benign	0.16
R5068:Zfc3h1	UTSW	10	115,254,688 (GRCm39)	nonsense	probably null
R5069:Zfc3h1	UTSW	10	115,254,688 (GRCm39)	nonsense	probably null
R5070:Zfc3h1	UTSW	10	115,254,688 (GRCm39)	nonsense	probably null
R5155:Zfc3h1	UTSW	10	115,248,026 (GRCm39)	missense	possibly damaging	0.64
R5190:Zfc3h1	UTSW	10	115,254,597 (GRCm39)	missense	probably damaging	1.00
R5499:Zfc3h1	UTSW	10	115,246,598 (GRCm39)	missense	probably damaging	1.00
R5932:Zfc3h1	UTSW	10	115,236,815 (GRCm39)	missense	probably benign	0.44
R5935:Zfc3h1	UTSW	10	115,267,262 (GRCm39)	intron	probably benign
R6165:Zfc3h1	UTSW	10	115,256,574 (GRCm39)	missense	probably benign	0.30
R6182:Zfc3h1	UTSW	10	115,226,764 (GRCm39)	missense	probably benign	0.00
R6262:Zfc3h1	UTSW	10	115,249,881 (GRCm39)	missense	probably damaging	1.00
R6382:Zfc3h1	UTSW	10	115,243,813 (GRCm39)	missense	probably benign	0.06
R6392:Zfc3h1	UTSW	10	115,237,653 (GRCm39)	missense	probably damaging	1.00
R6539:Zfc3h1	UTSW	10	115,247,907 (GRCm39)	missense	probably benign	0.26
R6723:Zfc3h1	UTSW	10	115,256,638 (GRCm39)	missense	probably benign	0.34
R7339:Zfc3h1	UTSW	10	115,239,205 (GRCm39)	missense	probably damaging	1.00
R7381:Zfc3h1	UTSW	10	115,260,535 (GRCm39)	missense	probably benign
R7404:Zfc3h1	UTSW	10	115,251,153 (GRCm39)	missense	probably damaging	0.96
R7667:Zfc3h1	UTSW	10	115,246,606 (GRCm39)	nonsense	probably null
R7748:Zfc3h1	UTSW	10	115,236,720 (GRCm39)	missense	probably benign	0.27
R7910:Zfc3h1	UTSW	10	115,256,588 (GRCm39)	nonsense	probably null
R7914:Zfc3h1	UTSW	10	115,239,062 (GRCm39)	splice site	probably null
R8023:Zfc3h1	UTSW	10	115,256,553 (GRCm39)	missense	probably damaging	1.00
R8169:Zfc3h1	UTSW	10	115,254,616 (GRCm39)	missense	probably damaging	0.98
R8358:Zfc3h1	UTSW	10	115,240,198 (GRCm39)	missense	probably benign	0.13
R8746:Zfc3h1	UTSW	10	115,243,885 (GRCm39)	missense	probably damaging	1.00
R8803:Zfc3h1	UTSW	10	115,247,800 (GRCm39)	missense	probably benign
R8905:Zfc3h1	UTSW	10	115,259,383 (GRCm39)	missense	probably benign	0.05
R9045:Zfc3h1	UTSW	10	115,263,319 (GRCm39)	missense	possibly damaging	0.49
R9164:Zfc3h1	UTSW	10	115,259,374 (GRCm39)	missense	probably benign	0.17
R9211:Zfc3h1	UTSW	10	115,248,328 (GRCm39)	missense	possibly damaging	0.83
R9216:Zfc3h1	UTSW	10	115,221,528 (GRCm39)	missense	unknown
R9305:Zfc3h1	UTSW	10	115,255,771 (GRCm39)	missense	probably benign	0.19
R9372:Zfc3h1	UTSW	10	115,221,223 (GRCm39)	missense	unknown
R9394:Zfc3h1	UTSW	10	115,254,600 (GRCm39)	missense	probably damaging	1.00
R9414:Zfc3h1	UTSW	10	115,249,916 (GRCm39)	missense	possibly damaging	0.56
R9538:Zfc3h1	UTSW	10	115,221,197 (GRCm39)	missense	unknown
R9623:Zfc3h1	UTSW	10	115,259,362 (GRCm39)	missense	possibly damaging	0.94
R9633:Zfc3h1	UTSW	10	115,247,852 (GRCm39)	missense	probably damaging	1.00
R9747:Zfc3h1	UTSW	10	115,244,821 (GRCm39)	missense	possibly damaging	0.58
Z1176:Zfc3h1	UTSW	10	115,243,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTATGGTTGTAGACAGTCTGAC -3'
(R):5'- GGATCAACTGAAGGGCATCAC -3'

Sequencing Primer
(F):5'- ATGGTTGTAGACAGTCTGACATTATG -3'
(R):5'- CTGAAGGGCATCACATTTAAAACAG -3'

Posted On

2016-02-04