Mutagenetix > Incidental Mutation

Incidental Mutation 'R9169:Zc3h14'

696293

Institutional Source

Beutler Lab

Gene Symbol

Zc3h14

Ensembl Gene

ENSMUSG00000021012

Gene Name

zinc finger CCCH type containing 14

Synonyms

2700069A02Rik, 1010001P15Rik, 1700016A15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98713223-98754012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98745505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 498 (S498L)

Ref Sequence

ENSEMBL: ENSMUSP00000105732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021399] [ENSMUST00000057000] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532]

AlphaFold

Q8BJ05

Predicted Effect

probably benign
Transcript: ENSMUST00000021399

SMART Domains

Protein: ENSMUSP00000021399
Gene: ENSMUSG00000021012

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	69	91	N/A	INTRINSIC
ZnF_C3H1	170	193	7.16e-1	SMART
ZnF_C3H1	195	214	5.27e1	SMART
ZnF_C3H1	250	272	5.55e0	SMART
Pfam:zf-CCCH_2	273	290	1.3e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057000

SMART Domains

Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012

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 benign
Transcript: ENSMUST00000110104

SMART Domains

Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012

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: S498L

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

SMART Domains

Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: S498L

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

possibly damaging
Transcript: ENSMUST00000223451
AA Change: S169L

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (92/92)

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
2610021A01Rik	A	T	7: 41,261,109 (GRCm39)		probably benign	Het
9330182O14Rik	A	T	15: 40,005,632 (GRCm39)	K17*	probably null	Het
Adamtsl3	A	C	7: 82,223,188 (GRCm39)	I990L	probably damaging	Het
Add1	T	A	5: 34,788,122 (GRCm39)	S724T	possibly damaging	Het
Afdn	A	G	17: 14,072,627 (GRCm39)	N865S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ap1m2	T	A	9: 21,223,523 (GRCm39)	I8F	probably benign	Het
Atp8a1	T	C	5: 67,824,944 (GRCm39)	T811A		Het
Axin2	A	G	11: 108,822,378 (GRCm39)	D310G	probably damaging	Het
Bin1	T	G	18: 32,562,251 (GRCm39)	F379L	possibly damaging	Het
Bin2	C	A	15: 100,554,631 (GRCm39)	S91I	possibly damaging	Het
Birc5	A	G	11: 117,743,599 (GRCm39)	N111S	probably benign	Het
Blk	T	A	14: 63,620,130 (GRCm39)	N137Y	probably damaging	Het
Cacna1d	G	A	14: 29,796,873 (GRCm39)	A1534V	probably damaging	Het
Cacna2d1	T	C	5: 16,451,757 (GRCm39)	V207A	probably damaging	Het
Ccr3	A	G	9: 123,828,949 (GRCm39)	I95V	probably benign	Het
Celsr2	T	C	3: 108,309,862 (GRCm39)	D1579G	probably benign	Het
Cfap36	C	A	11: 29,196,541 (GRCm39)	K19N	probably benign	Het
Cfap52	C	T	11: 67,844,860 (GRCm39)	V70M	possibly damaging	Het
Chid1	A	T	7: 141,093,722 (GRCm39)	I298N	probably damaging	Het
Clstn1	G	T	4: 149,731,322 (GRCm39)	R888L	possibly damaging	Het
Col6a5	T	A	9: 105,822,596 (GRCm39)	T254S	unknown	Het
Coro6	C	T	11: 77,359,329 (GRCm39)	P301S	probably damaging	Het
Cstdc2	A	G	2: 148,692,589 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,422,114 (GRCm39)	D102G	probably damaging	Het
Dnah14	T	C	1: 181,433,381 (GRCm39)	F353L	probably benign	Het
Dnajc10	A	T	2: 80,163,315 (GRCm39)	I344L	probably benign	Het
Dst	T	C	1: 34,303,652 (GRCm39)	V4026A	probably damaging	Het
Exo1	A	G	1: 175,715,203 (GRCm39)	E114G	possibly damaging	Het
Fabp7	A	G	10: 57,662,439 (GRCm39)	I109V	probably benign	Het
Fars2	T	C	13: 36,416,109 (GRCm39)	F206S	probably damaging	Het
Gbp8	C	T	5: 105,179,155 (GRCm39)	A115T	possibly damaging	Het
Gm17067	T	C	7: 42,357,627 (GRCm39)	T292A	probably benign	Het
Gp2	T	C	7: 119,041,929 (GRCm39)	D532G	probably benign	Het
Gtf2i	C	A	5: 134,271,534 (GRCm39)	A917S	probably damaging	Het
Guca1b	A	G	17: 47,702,827 (GRCm39)	E169G	possibly damaging	Het
Hdac1	A	T	4: 129,428,499 (GRCm39)	Y24N	probably damaging	Het
Hepacam	T	C	9: 37,293,693 (GRCm39)	F251L	probably damaging	Het
Hmcn1	G	T	1: 150,506,092 (GRCm39)	N3811K	probably damaging	Het
Htra4	A	T	8: 25,520,133 (GRCm39)	M391K	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Ints1	T	G	5: 139,748,586 (GRCm39)	T1074P	probably benign	Het
Itga6	A	T	2: 71,647,015 (GRCm39)	Q75L	possibly damaging	Het
Mapk14	A	C	17: 28,960,814 (GRCm39)	N272T	probably benign	Het
Meikin	A	T	11: 54,285,517 (GRCm39)	T185S	possibly damaging	Het
Moxd2	C	T	6: 40,860,490 (GRCm39)	G318D	possibly damaging	Het
Mtmr3	G	A	11: 4,437,739 (GRCm39)	T905I	probably benign	Het
Muc16	A	G	9: 18,567,824 (GRCm39)	I1565T	unknown	Het
Myh14	A	G	7: 44,271,281 (GRCm39)	S1500P	possibly damaging	Het
Nfkb1	T	C	3: 135,310,874 (GRCm39)	E475G	probably benign	Het
Ngef	C	A	1: 87,473,581 (GRCm39)	R67L	probably benign	Het
Olr1	T	C	6: 129,470,528 (GRCm39)	E213G	probably damaging	Het
Or13c3	T	A	4: 52,856,052 (GRCm39)	I154F	probably damaging	Het
Or5b124	A	G	19: 13,610,903 (GRCm39)	I143V	probably benign	Het
Or8g21	A	G	9: 38,906,573 (GRCm39)	S53P	probably benign	Het
Or9r3	A	C	10: 129,947,723 (GRCm39)	I312R	probably benign	Het
Pcdhga3	C	T	18: 37,809,088 (GRCm39)	L514F	probably damaging	Het
Pcnt	A	G	10: 76,221,572 (GRCm39)	M2018T	possibly damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3ca	T	C	3: 32,503,755 (GRCm39)		probably null	Het
Psapl1	A	G	5: 36,362,880 (GRCm39)	S491G	possibly damaging	Het
Psmf1	A	T	2: 151,577,457 (GRCm39)	D73E	probably benign	Het
Ptprcap	A	G	19: 4,206,358 (GRCm39)	D147G	probably benign	Het
Ramacl	T	C	13: 67,056,063 (GRCm39)	F19L	probably damaging	Het
Rdh8	T	A	9: 20,736,935 (GRCm39)	V309E	possibly damaging	Het
Rhobtb3	T	A	13: 76,041,121 (GRCm39)	T396S	probably benign	Het
Rpa1	A	T	11: 75,200,999 (GRCm39)	L475*	probably null	Het
Rtkn	T	A	6: 83,129,190 (GRCm39)	S562T	probably damaging	Het
Saxo5	A	T	8: 3,525,967 (GRCm39)	Y40F	possibly damaging	Het
Scamp1	C	T	13: 94,389,533 (GRCm39)	D35N	probably benign	Het
Scarb1	C	T	5: 125,371,146 (GRCm39)	A309T	probably damaging	Het
Scube1	G	A	15: 83,543,298 (GRCm39)	T180M	possibly damaging	Het
Sez6	T	G	11: 77,868,473 (GRCm39)	F945V	probably damaging	Het
Sf3a1	C	T	11: 4,116,681 (GRCm39)	T124M	probably benign	Het
Smchd1	T	C	17: 71,722,659 (GRCm39)	K759E	probably damaging	Het
Sort1	C	A	3: 108,247,994 (GRCm39)	C446*	probably null	Het
Sun1	T	A	5: 139,219,273 (GRCm39)	S360T	probably benign	Het
Supv3l1	A	G	10: 62,268,238 (GRCm39)	F536L	probably damaging	Het
Taar6	A	C	10: 23,861,273 (GRCm39)	V91G	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Thoc2l	T	A	5: 104,666,348 (GRCm39)	L290H	probably damaging	Het
Tmc2	T	A	2: 130,083,516 (GRCm39)	I491N	probably damaging	Het
Trmt112	T	C	19: 6,888,187 (GRCm39)	I113T	probably damaging	Het
Ttc14	C	T	3: 33,857,071 (GRCm39)	Q183*	probably null	Het
Txndc16	T	A	14: 45,373,385 (GRCm39)	D748V	probably damaging	Het
Xkr6	A	G	14: 63,844,067 (GRCm39)	D30G	possibly damaging	Het
Zc3h7b	A	C	15: 81,661,184 (GRCm39)	D341A	probably benign	Het
Zfp108	T	A	7: 23,960,923 (GRCm39)	C505S	probably damaging	Het
Zfp354c	A	C	11: 50,706,088 (GRCm39)	L329R	probably damaging	Het
Zfyve16	T	A	13: 92,657,871 (GRCm39)	D680V	probably damaging	Het
Znfx1	A	G	2: 166,897,185 (GRCm39)	F580L	probably benign	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
R6291:Zc3h14	UTSW	12	98,726,087 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTTAGGCAAAGAAAGGCATTTG -3'
(R):5'- TGAGAGCTGAATTTGGCTACTG -3'

Sequencing Primer
(F):5'- GTGAGGAAAGGACTATTTGAATTCTC -3'
(R):5'- GGCTACTGTTGGCCTAGC -3'

Posted On

2022-02-07