Mutagenetix > Incidental Mutation

Incidental Mutation 'R9394:Zfc3h1'

710753

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R9394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115220864-115268677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115254600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1398 (E1398G)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

AlphaFold

B2RT41

Predicted Effect

probably damaging
Transcript: ENSMUST00000036044
AA Change: E1398G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: E1398G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,135,225 (GRCm39)	D78G		Het
Adgrv1	A	G	13: 81,624,767 (GRCm39)	V3734A	possibly damaging	Het
Alpk1	T	A	3: 127,466,187 (GRCm39)	E1106D	probably damaging	Het
Apc2	A	G	10: 80,145,006 (GRCm39)	Y639C	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arfgef2	G	A	2: 166,676,469 (GRCm39)	V119I	probably benign	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Cfap52	A	G	11: 67,815,921 (GRCm39)	*621R	probably null	Het
Dis3l	T	C	9: 64,225,017 (GRCm39)	I427V	probably benign	Het
Dscaml1	G	A	9: 45,661,354 (GRCm39)	V1751I	possibly damaging	Het
Eif3c	A	T	7: 126,156,550 (GRCm39)	F432L	probably benign	Het
Iars1	A	G	13: 49,883,536 (GRCm39)	N1110S	probably benign	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Igfbpl1	A	T	4: 45,826,792 (GRCm39)	M1K	probably null	Het
Igkv3-1	T	A	6: 70,680,953 (GRCm39)	Y51N	probably benign	Het
Kcnq2	A	T	2: 180,724,217 (GRCm39)	I600K	probably benign	Het
Madd	G	A	2: 91,000,199 (GRCm39)	T569M	probably benign	Het
Mapk7	A	T	11: 61,381,858 (GRCm39)	H351Q	probably damaging	Het
Met	A	C	6: 17,513,395 (GRCm39)	Y415S	probably damaging	Het
Mmd2	A	T	5: 142,555,239 (GRCm39)	V151D	probably damaging	Het
Nacad	T	C	11: 6,549,390 (GRCm39)	D1267G	probably damaging	Het
Or10g1	A	G	14: 52,647,570 (GRCm39)	V253A	probably damaging	Het
Or2l13	A	C	16: 19,306,421 (GRCm39)	T278P	possibly damaging	Het
Or2m13	A	G	16: 19,226,019 (GRCm39)	V249A	probably benign	Het
Or5w12	T	C	2: 87,502,094 (GRCm39)	I206V	probably benign	Het
Osbpl8	C	T	10: 111,127,375 (GRCm39)	R820*	probably null	Het
Oxsr1	C	A	9: 119,151,134 (GRCm39)	E3*	probably null	Het
Plekhg3	A	G	12: 76,623,862 (GRCm39)	D1035G	probably damaging	Het
Prune2	C	T	19: 16,981,053 (GRCm39)	T70I	probably damaging	Het
Ranbp2	T	C	10: 58,291,698 (GRCm39)	L235S	probably damaging	Het
Rasal1	A	C	5: 120,816,746 (GRCm39)	S761R	probably benign	Het
Rigi	T	C	4: 40,213,831 (GRCm39)	N609S	probably damaging	Het
Rims1	T	C	1: 22,511,856 (GRCm39)	S566G	probably damaging	Het
Rnf123	T	C	9: 107,942,905 (GRCm39)	H611R	probably damaging	Het
Rpl35rt	T	C	1: 156,193,793 (GRCm39)	V49A	probably benign	Het
Scn5a	T	A	9: 119,324,682 (GRCm39)	N1382I	probably damaging	Het
Sgcb	T	C	5: 73,801,653 (GRCm39)	I71V	probably benign	Het
Slc6a20a	C	A	9: 123,507,805 (GRCm39)	V23L	probably damaging	Het
Slc7a1	A	G	5: 148,270,712 (GRCm39)	W585R	probably damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tom1l2	T	C	11: 60,132,715 (GRCm39)	T403A	probably benign	Het
Trpm1	G	T	7: 63,918,480 (GRCm39)	A1491S	probably benign	Het
Ttn	A	C	2: 76,707,058 (GRCm39)	D9044E	unknown	Het
Ube3a	A	T	7: 58,921,960 (GRCm39)	K111*	probably null	Het
Wee2	A	G	6: 40,433,878 (GRCm39)	H264R	probably damaging	Het
Zdhhc23	T	A	16: 43,791,826 (GRCm39)	I316F	probably damaging	Het
Zfp612	C	A	8: 110,810,993 (GRCm39)	P57T	probably 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
R4816:Zfc3h1	UTSW	10	115,251,599 (GRCm39)	missense	probably benign	0.16
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
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'- AGCTCTGCGGAGATGTTAAG -3'
(R):5'- CGCCCCAAGGAATTATGACCATAG -3'

Sequencing Primer
(F):5'- AGTGTTTCAGTAGTTTACACTGC -3'
(R):5'- TAGCATACATCAACCACATGGCTG -3'

Posted On

2022-04-18