Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Zc3h14'

508454

Institutional Source

Beutler Lab

Gene Symbol

Zc3h14

Ensembl Gene

ENSMUSG00000021012

Gene Name

zinc finger CCCH type containing 14

Synonyms

2700069A02Rik, 1010001P15Rik, 1700016A15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98713223-98754012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98726087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 324 (R324H)

Ref Sequence

ENSEMBL: ENSMUSP00000105732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057000] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532] [ENSMUST00000223083]

AlphaFold

Q8BJ05

Predicted Effect

probably damaging
Transcript: ENSMUST00000057000
AA Change: R324H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: R324H

Domain	Start	End	E-Value	Type
low complexity region	298	306	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ZnF_C3H1	440	463	7.16e-1	SMART
ZnF_C3H1	465	484	5.27e1	SMART
ZnF_C3H1	520	542	5.55e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110104
AA Change: R324H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: R324H

Domain	Start	End	E-Value	Type
low complexity region	298	306	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ZnF_C3H1	465	488	7.16e-1	SMART
ZnF_C3H1	490	509	5.27e1	SMART
ZnF_C3H1	545	567	5.55e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110105
AA Change: R324H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: R324H

Domain	Start	End	E-Value	Type
low complexity region	298	306	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ZnF_C3H1	596	619	7.16e-1	SMART
ZnF_C3H1	621	640	5.27e1	SMART
ZnF_C3H1	676	698	5.55e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222913

Predicted Effect

probably benign
Transcript: ENSMUST00000223083

Predicted Effect

probably benign
Transcript: ENSMUST00000223451

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	Het

Other mutations in Zc3h14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Zc3h14	APN	12	98,713,783 (GRCm39)	critical splice donor site	probably null
IGL00946:Zc3h14	APN	12	98,726,142 (GRCm39)	splice site	probably benign
IGL00969:Zc3h14	APN	12	98,725,102 (GRCm39)	missense	probably benign	0.00
IGL01626:Zc3h14	APN	12	98,745,445 (GRCm39)	missense	possibly damaging	0.72
IGL01891:Zc3h14	APN	12	98,725,206 (GRCm39)	unclassified	probably benign
IGL02119:Zc3h14	APN	12	98,730,154 (GRCm39)	missense	probably benign	0.00
IGL02484:Zc3h14	APN	12	98,740,560 (GRCm39)	missense	probably benign	0.14
IGL02744:Zc3h14	APN	12	98,751,234 (GRCm39)	missense	possibly damaging	0.67
IGL02894:Zc3h14	APN	12	98,725,202 (GRCm39)	critical splice donor site	probably null
R0408:Zc3h14	UTSW	12	98,730,082 (GRCm39)	missense	probably damaging	1.00
R0739:Zc3h14	UTSW	12	98,723,460 (GRCm39)	missense	probably damaging	0.99
R0865:Zc3h14	UTSW	12	98,745,528 (GRCm39)	critical splice donor site	probably null
R0926:Zc3h14	UTSW	12	98,724,849 (GRCm39)	missense	possibly damaging	0.94
R1530:Zc3h14	UTSW	12	98,751,262 (GRCm39)	missense	probably damaging	1.00
R1735:Zc3h14	UTSW	12	98,724,839 (GRCm39)	missense	probably damaging	1.00
R1743:Zc3h14	UTSW	12	98,745,448 (GRCm39)	missense	probably benign	0.04
R1848:Zc3h14	UTSW	12	98,719,091 (GRCm39)	missense	possibly damaging	0.89
R1851:Zc3h14	UTSW	12	98,726,613 (GRCm39)	nonsense	probably null
R1978:Zc3h14	UTSW	12	98,730,181 (GRCm39)	missense	probably damaging	0.97
R2011:Zc3h14	UTSW	12	98,746,527 (GRCm39)	missense	possibly damaging	0.76
R2198:Zc3h14	UTSW	12	98,719,069 (GRCm39)	missense	possibly damaging	0.94
R2198:Zc3h14	UTSW	12	98,719,068 (GRCm39)	missense	probably damaging	1.00
R2263:Zc3h14	UTSW	12	98,724,773 (GRCm39)	missense	probably benign	0.32
R3762:Zc3h14	UTSW	12	98,724,902 (GRCm39)	missense	probably damaging	1.00
R4210:Zc3h14	UTSW	12	98,751,658 (GRCm39)	missense	probably damaging	1.00
R4353:Zc3h14	UTSW	12	98,730,219 (GRCm39)	missense	possibly damaging	0.70
R4360:Zc3h14	UTSW	12	98,746,456 (GRCm39)	missense	probably benign	0.09
R4814:Zc3h14	UTSW	12	98,719,107 (GRCm39)	missense	probably damaging	1.00
R4815:Zc3h14	UTSW	12	98,719,107 (GRCm39)	missense	probably damaging	1.00
R4817:Zc3h14	UTSW	12	98,719,107 (GRCm39)	missense	probably damaging	1.00
R4947:Zc3h14	UTSW	12	98,726,083 (GRCm39)	missense	probably benign
R5077:Zc3h14	UTSW	12	98,723,465 (GRCm39)	critical splice donor site	probably null
R5431:Zc3h14	UTSW	12	98,746,324 (GRCm39)	missense	possibly damaging	0.94
R5783:Zc3h14	UTSW	12	98,723,434 (GRCm39)	missense	probably damaging	0.99
R5850:Zc3h14	UTSW	12	98,745,414 (GRCm39)	missense	probably damaging	0.97
R6034:Zc3h14	UTSW	12	98,737,632 (GRCm39)	missense	probably benign	0.01
R6034:Zc3h14	UTSW	12	98,737,632 (GRCm39)	missense	probably benign	0.01
R6338:Zc3h14	UTSW	12	98,724,849 (GRCm39)	missense	possibly damaging	0.94
R6595:Zc3h14	UTSW	12	98,723,285 (GRCm39)	missense	probably damaging	0.98
R6737:Zc3h14	UTSW	12	98,751,305 (GRCm39)	missense	probably damaging	1.00
R6932:Zc3h14	UTSW	12	98,737,336 (GRCm39)	intron	probably benign
R7074:Zc3h14	UTSW	12	98,724,859 (GRCm39)	missense	possibly damaging	0.96
R7204:Zc3h14	UTSW	12	98,737,615 (GRCm39)	missense	probably damaging	1.00
R7237:Zc3h14	UTSW	12	98,746,408 (GRCm39)	missense	probably benign	0.34
R7267:Zc3h14	UTSW	12	98,751,988 (GRCm39)	missense	probably damaging	1.00
R8753:Zc3h14	UTSW	12	98,724,831 (GRCm39)	missense	probably benign	0.12
R9169:Zc3h14	UTSW	12	98,745,505 (GRCm39)	missense	probably damaging	1.00
R9610:Zc3h14	UTSW	12	98,737,663 (GRCm39)	missense	possibly damaging	0.92
RF020:Zc3h14	UTSW	12	98,746,541 (GRCm39)	critical splice donor site	probably null
RF024:Zc3h14	UTSW	12	98,725,120 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTGTTCTGGCCCAAAAG -3'
(R):5'- CACTTATCTACCATGAGCATGCAC -3'

Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- TGAGCATGCACAGCCCC -3'

Posted On

2018-03-15