Mutagenetix > Incidental Mutation

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

3110050K21Rik, C87618, 4930570G11Rik, 2600010B19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

75521813-75581866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75567787 bp (GRCm39)

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]

AlphaFold

E9Q784

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: 120,614,635 (GRCm39)		probably benign	Het
4930432E11Rik	C	T	7: 29,262,704 (GRCm39)		noncoding transcript	Het
Adcy10	T	C	1: 165,400,112 (GRCm39)	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,110,746 (GRCm39)	M1010L	unknown	Het
Bmp10	T	C	6: 87,411,130 (GRCm39)	S308P	probably benign	Het
Cnih3	C	A	1: 181,282,274 (GRCm39)	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,590,685 (GRCm39)	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,288,808 (GRCm39)		probably benign	Het
Dcstamp	A	T	15: 39,617,928 (GRCm39)	E112D	probably damaging	Het
Fras1	C	T	5: 96,929,496 (GRCm39)	Q3967*	probably null	Het
Gcm1	C	A	9: 77,972,121 (GRCm39)	P354H	possibly damaging	Het
Gen1	A	G	12: 11,291,867 (GRCm39)	S706P	probably benign	Het
Glb1l3	G	T	9: 26,736,466 (GRCm39)	T532N	probably benign	Het
Gm5069	T	A	1: 180,154,872 (GRCm39)		probably benign	Het
Gzmc	A	C	14: 56,471,422 (GRCm39)	F40V	probably benign	Het
Itgb2	G	T	10: 77,385,895 (GRCm39)	C286F	probably damaging	Het
Jak3	A	G	8: 72,131,124 (GRCm39)	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,367,960 (GRCm39)	S184L	probably benign	Het
Myo1f	T	A	17: 33,798,945 (GRCm39)	N203K	probably benign	Het
Nrxn2	G	A	19: 6,522,306 (GRCm39)	G182R	probably damaging	Het
Or4k15c	T	C	14: 50,321,943 (GRCm39)	N65S	probably damaging	Het
Or4p8	A	G	2: 88,727,503 (GRCm39)	V146A	probably benign	Het
Or5g23	A	C	2: 85,438,664 (GRCm39)	L197V	probably benign	Het
Otog	C	T	7: 45,954,903 (GRCm39)	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,672,444 (GRCm39)	T34I	probably benign	Het
Phip	T	C	9: 82,763,394 (GRCm39)	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 98,953,430 (GRCm39)	V451A	probably benign	Het
Psd2	T	G	18: 36,137,809 (GRCm39)		probably benign	Het
Pycr2	T	C	1: 180,733,762 (GRCm39)	I118T	probably damaging	Het
Rnf17	T	G	14: 56,658,623 (GRCm39)	M104R	probably benign	Het
Rp1l1	T	C	14: 64,266,259 (GRCm39)	V615A	probably benign	Het
Sel1l3	T	A	5: 53,327,747 (GRCm39)	R511W	possibly damaging	Het
Sis	T	C	3: 72,854,804 (GRCm39)	N478D	probably benign	Het
Trps1	T	A	15: 50,685,674 (GRCm39)	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,284,491 (GRCm39)		probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp644	A	T	5: 106,783,760 (GRCm39)	I929K	probably benign	Het

Other mutations in Zc3h13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Zc3h13	APN	14	75,567,587 (GRCm39)	missense	probably damaging	0.99
IGL01129:Zc3h13	APN	14	75,573,439 (GRCm39)	missense	probably damaging	1.00
IGL01599:Zc3h13	APN	14	75,547,163 (GRCm39)	missense	probably damaging	1.00
IGL01844:Zc3h13	APN	14	75,581,209 (GRCm39)	utr 3 prime	probably benign
IGL03108:Zc3h13	APN	14	75,569,206 (GRCm39)	missense	possibly damaging	0.73
IGL03299:Zc3h13	APN	14	75,531,381 (GRCm39)	missense	probably damaging	1.00
IGL03377:Zc3h13	APN	14	75,531,416 (GRCm39)	missense	possibly damaging	0.53
B5639:Zc3h13	UTSW	14	75,553,479 (GRCm39)	missense	probably damaging	1.00
FR4304:Zc3h13	UTSW	14	75,561,050 (GRCm39)	small insertion	probably benign
FR4304:Zc3h13	UTSW	14	75,561,043 (GRCm39)	small insertion	probably benign
FR4340:Zc3h13	UTSW	14	75,561,032 (GRCm39)	small insertion	probably benign
FR4449:Zc3h13	UTSW	14	75,561,041 (GRCm39)	nonsense	probably null
FR4548:Zc3h13	UTSW	14	75,561,039 (GRCm39)	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75,561,038 (GRCm39)	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75,561,032 (GRCm39)	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75,561,037 (GRCm39)	small insertion	probably benign
FR4737:Zc3h13	UTSW	14	75,561,039 (GRCm39)	small insertion	probably benign
FR4737:Zc3h13	UTSW	14	75,561,036 (GRCm39)	small insertion	probably benign
PIT4696001:Zc3h13	UTSW	14	75,569,323 (GRCm39)	missense	probably damaging	1.00
R0103:Zc3h13	UTSW	14	75,567,908 (GRCm39)	missense	probably damaging	0.98
R0103:Zc3h13	UTSW	14	75,567,908 (GRCm39)	missense	probably damaging	0.98
R0127:Zc3h13	UTSW	14	75,560,694 (GRCm39)	missense	unknown
R0374:Zc3h13	UTSW	14	75,546,405 (GRCm39)	missense	probably damaging	1.00
R0396:Zc3h13	UTSW	14	75,560,922 (GRCm39)	missense	unknown
R0408:Zc3h13	UTSW	14	75,529,626 (GRCm39)	nonsense	probably null
R0967:Zc3h13	UTSW	14	75,581,179 (GRCm39)	missense	possibly damaging	0.54
R1006:Zc3h13	UTSW	14	75,567,989 (GRCm39)	missense	probably damaging	0.99
R1142:Zc3h13	UTSW	14	75,553,424 (GRCm39)	missense	probably benign	0.14
R1605:Zc3h13	UTSW	14	75,574,923 (GRCm39)	nonsense	probably null
R2021:Zc3h13	UTSW	14	75,567,635 (GRCm39)	missense	probably damaging	0.96
R2270:Zc3h13	UTSW	14	75,569,587 (GRCm39)	missense	probably benign	0.03
R3508:Zc3h13	UTSW	14	75,546,380 (GRCm39)	nonsense	probably null
R3745:Zc3h13	UTSW	14	75,568,101 (GRCm39)	missense	probably benign	0.03
R3954:Zc3h13	UTSW	14	75,567,178 (GRCm39)	missense	possibly damaging	0.85
R4205:Zc3h13	UTSW	14	75,565,041 (GRCm39)	missense	unknown
R4799:Zc3h13	UTSW	14	75,576,863 (GRCm39)	missense	probably damaging	1.00
R5042:Zc3h13	UTSW	14	75,576,836 (GRCm39)	missense	probably damaging	0.98
R5133:Zc3h13	UTSW	14	75,573,449 (GRCm39)	missense	probably damaging	1.00
R5384:Zc3h13	UTSW	14	75,581,059 (GRCm39)	missense	probably benign	0.14
R5432:Zc3h13	UTSW	14	75,568,687 (GRCm39)	missense	probably damaging	1.00
R5611:Zc3h13	UTSW	14	75,568,348 (GRCm39)	missense	probably benign	0.10
R5687:Zc3h13	UTSW	14	75,569,400 (GRCm39)	nonsense	probably null
R5726:Zc3h13	UTSW	14	75,568,269 (GRCm39)	missense	possibly damaging	0.84
R5817:Zc3h13	UTSW	14	75,565,572 (GRCm39)	missense	probably damaging	0.96
R6087:Zc3h13	UTSW	14	75,568,149 (GRCm39)	missense	probably damaging	0.96
R6224:Zc3h13	UTSW	14	75,574,849 (GRCm39)	missense	probably damaging	0.99
R6247:Zc3h13	UTSW	14	75,581,176 (GRCm39)	missense	probably benign	0.14
R6278:Zc3h13	UTSW	14	75,567,863 (GRCm39)	missense	probably benign	0.01
R6315:Zc3h13	UTSW	14	75,546,355 (GRCm39)	missense	probably damaging	1.00
R6490:Zc3h13	UTSW	14	75,560,998 (GRCm39)	small deletion	probably benign
R6598:Zc3h13	UTSW	14	75,569,623 (GRCm39)	missense	probably damaging	0.99
R7051:Zc3h13	UTSW	14	75,568,597 (GRCm39)	missense	probably damaging	1.00
R7054:Zc3h13	UTSW	14	75,559,227 (GRCm39)	missense	probably benign	0.19
R7135:Zc3h13	UTSW	14	75,559,161 (GRCm39)	missense	unknown
R7307:Zc3h13	UTSW	14	75,567,981 (GRCm39)	missense	probably damaging	0.96
R7515:Zc3h13	UTSW	14	75,546,349 (GRCm39)	missense	unknown
R7680:Zc3h13	UTSW	14	75,567,955 (GRCm39)	missense	probably damaging	0.99
R8031:Zc3h13	UTSW	14	75,568,070 (GRCm39)	missense	not run
R8048:Zc3h13	UTSW	14	75,561,977 (GRCm39)	missense	unknown
R8059:Zc3h13	UTSW	14	75,565,250 (GRCm39)	missense	unknown
R8362:Zc3h13	UTSW	14	75,561,909 (GRCm39)	missense	unknown
R8391:Zc3h13	UTSW	14	75,568,625 (GRCm39)	missense	probably damaging	1.00
R8724:Zc3h13	UTSW	14	75,569,512 (GRCm39)	missense	probably benign	0.05
R9081:Zc3h13	UTSW	14	75,569,381 (GRCm39)	small deletion	probably benign
R9082:Zc3h13	UTSW	14	75,569,381 (GRCm39)	small deletion	probably benign
R9101:Zc3h13	UTSW	14	75,561,042 (GRCm39)	missense	unknown
R9214:Zc3h13	UTSW	14	75,560,991 (GRCm39)	missense	unknown
R9308:Zc3h13	UTSW	14	75,565,418 (GRCm39)	missense	unknown
R9376:Zc3h13	UTSW	14	75,561,128 (GRCm39)	missense	unknown
R9618:Zc3h13	UTSW	14	75,567,542 (GRCm39)	missense
R9665:Zc3h13	UTSW	14	75,567,989 (GRCm39)	missense	probably damaging	0.99
Z1177:Zc3h13	UTSW	14	75,565,505 (GRCm39)	missense	unknown

Posted On

2015-04-16