Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02132:Zc3h13'

281046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h13

Ensembl Gene

ENSMUSG00000022000

Gene Name

zinc finger CCCH type containing 13

Synonyms

4930570G11Rik, 3110050K21Rik, 2600010B19Rik, C87618

Accession Numbers

Genbank: NM_026083

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

75284373-75344426 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75330347 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1027 (S1027P)

Ref Sequence

ENSEMBL: ENSMUSP00000022577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022577] [ENSMUST00000227049]

Predicted Effect

probably benign
Transcript: ENSMUST00000022577
AA Change: S1027P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: S1027P

Domain	Start	End	E-Value	Type
ZnF_C3H1	36	63	4.54e-4	SMART
low complexity region	136	145	N/A	INTRINSIC
coiled coil region	162	197	N/A	INTRINSIC
low complexity region	204	233	N/A	INTRINSIC
low complexity region	261	269	N/A	INTRINSIC
low complexity region	278	287	N/A	INTRINSIC
low complexity region	321	357	N/A	INTRINSIC
low complexity region	411	478	N/A	INTRINSIC
low complexity region	482	493	N/A	INTRINSIC
low complexity region	496	575	N/A	INTRINSIC
low complexity region	684	701	N/A	INTRINSIC
coiled coil region	706	865	N/A	INTRINSIC
low complexity region	907	918	N/A	INTRINSIC
internal_repeat_1	921	948	1.8e-6	PROSPERO
low complexity region	964	985	N/A	INTRINSIC
low complexity region	1032	1052	N/A	INTRINSIC
low complexity region	1071	1087	N/A	INTRINSIC
low complexity region	1160	1218	N/A	INTRINSIC
low complexity region	1253	1265	N/A	INTRINSIC
internal_repeat_1	1273	1301	1.8e-6	PROSPERO
low complexity region	1325	1349	N/A	INTRINSIC
low complexity region	1366	1391	N/A	INTRINSIC
low complexity region	1400	1425	N/A	INTRINSIC
low complexity region	1431	1442	N/A	INTRINSIC
low complexity region	1690	1697	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000227049
AA Change: S1027P

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(11) : Targeted, other(2) Gene trapped(9)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,778,730		probably benign	Het
4930432E11Rik	C	T	7: 29,563,279		noncoding transcript	Het
Adcy10	T	C	1: 165,572,543	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,460,998	M1010L	unknown	Het
Bmp10	T	C	6: 87,434,148	S308P	probably benign	Het
Cnih3	C	A	1: 181,454,709	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,699,859	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,404,607		probably benign	Het
Dcstamp	A	T	15: 39,754,532	E112D	probably damaging	Het
Fras1	C	T	5: 96,781,637	Q3967*	probably null	Het
Gcm1	C	A	9: 78,064,839	P354H	possibly damaging	Het
Gen1	A	G	12: 11,241,866	S706P	probably benign	Het
Glb1l3	G	T	9: 26,825,170	T532N	probably benign	Het
Gm5069	T	A	1: 180,327,307		probably benign	Het
Gzmc	A	C	14: 56,233,965	F40V	probably benign	Het
Itgb2	G	T	10: 77,550,061	C286F	probably damaging	Het
Jak3	A	G	8: 71,678,480	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,537,616	S184L	probably benign	Het
Myo1f	T	A	17: 33,579,971	N203K	probably benign	Het
Nrxn2	G	A	19: 6,472,276	G182R	probably damaging	Het
Olfr1000	A	C	2: 85,608,320	L197V	probably benign	Het
Olfr1208	A	G	2: 88,897,159	V146A	probably benign	Het
Olfr726	T	C	14: 50,084,486	N65S	probably damaging	Het
Otog	C	T	7: 46,305,479	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,453,470	T34I	probably benign	Het
Phip	T	C	9: 82,881,341	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 99,071,377	V451A	probably benign	Het
Psd2	T	G	18: 36,004,756		probably benign	Het
Pycr2	T	C	1: 180,906,197	I118T	probably damaging	Het
Rnf17	T	G	14: 56,421,166	M104R	probably benign	Het
Rp1l1	T	C	14: 64,028,810	V615A	probably benign	Het
Sel1l3	T	A	5: 53,170,405	R511W	possibly damaging	Het
Sis	T	C	3: 72,947,471	N478D	probably benign	Het
Trps1	T	A	15: 50,822,278	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,064,229		probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zfp644	A	T	5: 106,635,894	I929K	probably benign	Het

Other mutations in Zc3h13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Zc3h13	APN	14	75330147	missense	probably damaging	0.99
IGL01129:Zc3h13	APN	14	75335999	missense	probably damaging	1.00
IGL01599:Zc3h13	APN	14	75309723	missense	probably damaging	1.00
IGL01844:Zc3h13	APN	14	75343769	utr 3 prime	probably benign
IGL03108:Zc3h13	APN	14	75331766	missense	possibly damaging	0.73
IGL03299:Zc3h13	APN	14	75293941	missense	probably damaging	1.00
IGL03377:Zc3h13	APN	14	75293976	missense	possibly damaging	0.53
B5639:Zc3h13	UTSW	14	75316039	missense	probably damaging	1.00
FR4304:Zc3h13	UTSW	14	75323603	small insertion	probably benign
FR4304:Zc3h13	UTSW	14	75323610	small insertion	probably benign
FR4340:Zc3h13	UTSW	14	75323592	small insertion	probably benign
FR4449:Zc3h13	UTSW	14	75323601	nonsense	probably null
FR4548:Zc3h13	UTSW	14	75323599	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75323592	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75323597	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75323598	small insertion	probably benign
FR4737:Zc3h13	UTSW	14	75323596	small insertion	probably benign
FR4737:Zc3h13	UTSW	14	75323599	small insertion	probably benign
PIT4696001:Zc3h13	UTSW	14	75331883	missense	probably damaging	1.00
R0103:Zc3h13	UTSW	14	75330468	missense	probably damaging	0.98
R0103:Zc3h13	UTSW	14	75330468	missense	probably damaging	0.98
R0127:Zc3h13	UTSW	14	75323254	missense	unknown
R0374:Zc3h13	UTSW	14	75308965	missense	probably damaging	1.00
R0396:Zc3h13	UTSW	14	75323482	missense	unknown
R0408:Zc3h13	UTSW	14	75292186	nonsense	probably null
R0967:Zc3h13	UTSW	14	75343739	missense	possibly damaging	0.54
R1006:Zc3h13	UTSW	14	75330549	missense	probably damaging	0.99
R1142:Zc3h13	UTSW	14	75315984	missense	probably benign	0.14
R1605:Zc3h13	UTSW	14	75337483	nonsense	probably null
R2021:Zc3h13	UTSW	14	75330195	missense	probably damaging	0.96
R2270:Zc3h13	UTSW	14	75332147	missense	probably benign	0.03
R3508:Zc3h13	UTSW	14	75308940	nonsense	probably null
R3745:Zc3h13	UTSW	14	75330661	missense	probably benign	0.03
R3954:Zc3h13	UTSW	14	75329738	missense	possibly damaging	0.85
R4205:Zc3h13	UTSW	14	75327601	missense	unknown
R4799:Zc3h13	UTSW	14	75339423	missense	probably damaging	1.00
R5042:Zc3h13	UTSW	14	75339396	missense	probably damaging	0.98
R5133:Zc3h13	UTSW	14	75336009	missense	probably damaging	1.00
R5384:Zc3h13	UTSW	14	75343619	missense	probably benign	0.14
R5432:Zc3h13	UTSW	14	75331247	missense	probably damaging	1.00
R5611:Zc3h13	UTSW	14	75330908	missense	probably benign	0.10
R5687:Zc3h13	UTSW	14	75331960	nonsense	probably null
R5726:Zc3h13	UTSW	14	75330829	missense	possibly damaging	0.84
R5817:Zc3h13	UTSW	14	75328132	missense	probably damaging	0.96
R6087:Zc3h13	UTSW	14	75330709	missense	probably damaging	0.96
R6224:Zc3h13	UTSW	14	75337409	missense	probably damaging	0.99
R6247:Zc3h13	UTSW	14	75343736	missense	probably benign	0.14
R6278:Zc3h13	UTSW	14	75330423	missense	probably benign	0.01
R6315:Zc3h13	UTSW	14	75308915	missense	probably damaging	1.00
R6490:Zc3h13	UTSW	14	75323558	small deletion	probably benign
R6598:Zc3h13	UTSW	14	75332183	missense	probably damaging	0.99
R7051:Zc3h13	UTSW	14	75331157	missense	probably damaging	1.00
R7054:Zc3h13	UTSW	14	75321787	missense	probably benign	0.19
R7135:Zc3h13	UTSW	14	75321721	missense	unknown
R7307:Zc3h13	UTSW	14	75330541	missense	probably damaging	0.96
R7515:Zc3h13	UTSW	14	75308909	missense	unknown
R7680:Zc3h13	UTSW	14	75330515	missense	probably damaging	0.99
R8031:Zc3h13	UTSW	14	75330630	missense	not run
R8048:Zc3h13	UTSW	14	75324537	missense	unknown
R8059:Zc3h13	UTSW	14	75327810	missense	unknown
Z1177:Zc3h13	UTSW	14	75328065	missense	unknown

Posted On

2015-04-16