Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01129:Zc3h13'

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52716

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: 0.960) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

75284373-75344426 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75335999 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1527 (D1527N)

Ref Sequence

ENSEMBL: ENSMUSP00000022577 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022577
AA Change: D1527N

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

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: D1527N

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: D1528N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228470

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 67,920,604	F216L	possibly damaging	Het
Bace2	T	G	16: 97,408,430	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ckap2	C	T	8: 22,169,758	G569D	probably damaging	Het
Col11a1	T	C	3: 114,185,873		probably benign	Het
Col1a2	G	A	6: 4,535,846	D939N	unknown	Het
Creb3l2	A	T	6: 37,353,634		probably benign	Het
Cuedc1	T	A	11: 88,183,254	S205T	possibly damaging	Het
Cux1	G	A	5: 136,304,718		probably benign	Het
Cyp3a59	A	G	5: 146,098,279	M256V	probably benign	Het
Gzf1	C	A	2: 148,690,996	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,994,965	D575E	probably benign	Het
Lypd3	A	G	7: 24,640,593	M362V	probably benign	Het
Mppe1	C	A	18: 67,237,444	G61*	probably null	Het
Nr2c2	T	A	6: 92,158,416	D328E	probably benign	Het
Olfr6	T	C	7: 106,956,427	N170D	probably damaging	Het
Pfn4	T	A	12: 4,775,505	V114E	probably damaging	Het
Rab14	T	C	2: 35,183,386		probably benign	Het
Slc30a9	G	T	5: 67,342,143	G315C	probably damaging	Het
Spag16	A	T	1: 69,896,522	S303C	probably benign	Het
Spata16	C	T	3: 26,913,184		probably benign	Het
Srcap	T	C	7: 127,521,651	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,149,746		probably benign	Het
Vmn1r18	A	T	6: 57,390,497	F24Y	probably benign	Het
Vmn1r78	A	T	7: 12,153,238	T259S	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
IGL01599:Zc3h13	APN	14	75309723	missense	probably damaging	1.00
IGL01844:Zc3h13	APN	14	75343769	utr 3 prime	probably benign
IGL02132:Zc3h13	APN	14	75330347	missense	probably benign	0.10
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
R8362:Zc3h13	UTSW	14	75324469	missense	unknown
R8391:Zc3h13	UTSW	14	75331185	missense	probably damaging	1.00
Z1177:Zc3h13	UTSW	14	75328065	missense	unknown

Posted On

2013-06-21