Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Zfc3h1'

168233

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115220864-115268677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115252647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 1320 (F1320Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

AlphaFold

B2RT41

Predicted Effect

probably benign
Transcript: ENSMUST00000036044
AA Change: F1320Y

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: F1320Y

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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,336,583 (GRCm39)	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,027,498 (GRCm39)	V23L	probably benign	Het
Atmin	T	A	8: 117,681,579 (GRCm39)	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,152,792 (GRCm39)	V225I	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC024139	A	G	15: 76,008,526 (GRCm39)	V350A	possibly damaging	Het
Birc6	G	T	17: 74,835,631 (GRCm39)	E29*	probably null	Het
Bnc2	T	C	4: 84,332,563 (GRCm39)	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,147,515 (GRCm39)		probably null	Het
Cd320	G	T	17: 34,066,613 (GRCm39)	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,510,133 (GRCm39)	S542P	probably damaging	Het
Crocc	T	C	4: 140,747,048 (GRCm39)	T1587A	probably benign	Het
Defb41	T	C	1: 18,330,817 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,384 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,355 (GRCm39)	N2836S	probably benign	Het
Dpp8	G	A	9: 64,986,030 (GRCm39)	S840N	probably benign	Het
Dsc2	A	G	18: 20,167,758 (GRCm39)	F111L	probably damaging	Het
Dsc2	T	A	18: 20,178,622 (GRCm39)	I261F	probably benign	Het
Ece1	T	C	4: 137,678,819 (GRCm39)	V509A	probably benign	Het
Ecm2	T	C	13: 49,671,808 (GRCm39)	M103T	possibly damaging	Het
Emsy	T	C	7: 98,240,063 (GRCm39)	H1064R	probably damaging	Het
Engase	T	C	11: 118,377,966 (GRCm39)	V252A	possibly damaging	Het
F13b	A	G	1: 139,438,703 (GRCm39)	Y369C	probably damaging	Het
Flii	T	C	11: 60,612,432 (GRCm39)		probably null	Het
Fzd10	T	A	5: 128,679,623 (GRCm39)	F448I	probably damaging	Het
Gpr35	T	G	1: 92,910,770 (GRCm39)	F161V	probably damaging	Het
Gprin2	T	C	14: 33,917,230 (GRCm39)	D180G	possibly damaging	Het
Grik3	A	G	4: 125,564,521 (GRCm39)	N501S	probably benign	Het
Hells	A	G	19: 38,956,209 (GRCm39)	K802E	probably damaging	Het
Il1r1	T	A	1: 40,332,509 (GRCm39)	C96*	probably null	Het
Kcnk16	T	A	14: 20,315,345 (GRCm39)	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,472,905 (GRCm39)	S652P	probably benign	Het
Lamc3	A	G	2: 31,830,763 (GRCm39)	D1500G	probably damaging	Het
Macf1	A	G	4: 123,272,273 (GRCm39)	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,733,644 (GRCm39)	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232 (GRCm39)	T323A	probably benign	Het
N4bp2	A	G	5: 65,947,841 (GRCm39)	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,124,781 (GRCm39)	H190Q	probably benign	Het
Or10a3m	T	C	7: 108,313,148 (GRCm39)	V184A	possibly damaging	Het
Or5b118	T	C	19: 13,449,044 (GRCm39)	S237P	probably damaging	Het
Or6c75	T	C	10: 129,337,460 (GRCm39)	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380 (GRCm39)	G414D	probably benign	Het
Pkd1	G	A	17: 24,813,827 (GRCm39)	R4097H	probably benign	Het
Pnkd	T	A	1: 74,388,968 (GRCm39)	L213Q	probably null	Het
Ppfibp1	A	G	6: 146,928,930 (GRCm39)	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,646,257 (GRCm39)	D148G	probably damaging	Het
Ptprt	A	T	2: 162,079,954 (GRCm39)	S282T	probably damaging	Het
Sgsm3	T	C	15: 80,894,457 (GRCm39)	V536A	probably benign	Het
Slc22a23	T	A	13: 34,387,947 (GRCm39)	Q383L	probably benign	Het
Snx29	T	C	16: 11,217,701 (GRCm39)		probably null	Het
Tmem229b-ps	T	A	10: 53,351,542 (GRCm39)		noncoding transcript	Het
Tmod4	A	T	3: 95,035,990 (GRCm39)	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,843,108 (GRCm39)	M375T	probably benign	Het
Txndc11	A	G	16: 10,892,926 (GRCm39)	S935P	probably damaging	Het
Umod	T	C	7: 119,064,720 (GRCm39)	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,917,643 (GRCm39)	Y290H	probably benign	Het
Vps26b	A	G	9: 26,924,041 (GRCm39)	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,104,658 (GRCm39)		probably null	Het
Zfp784	A	T	7: 5,039,039 (GRCm39)		probably benign	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
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
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'- TCTGCTTTACCAACAGACCGTACTTG -3'
(R):5'- GGAAGCTGACCTACCCCTCATTTTG -3'

Sequencing Primer
(F):5'- ACAGACCGTACTTGTAGTTTGTCAG -3'
(R):5'- GAGCCAAAGTTGTACATGGG -3'

Posted On

2014-04-13