Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01129:Zc3h13'

52716

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 #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

75521813-75581866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75573439 bp (GRCm39)

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]

AlphaFold

E9Q784

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: 66,964,210 (GRCm39)	F216L	possibly damaging	Het
Bace2	T	G	16: 97,209,630 (GRCm39)	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ckap2	C	T	8: 22,659,774 (GRCm39)	G569D	probably damaging	Het
Col11a1	T	C	3: 113,979,522 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,535,846 (GRCm39)	D939N	unknown	Het
Creb3l2	A	T	6: 37,330,569 (GRCm39)		probably benign	Het
Cuedc1	T	A	11: 88,074,080 (GRCm39)	S205T	possibly damaging	Het
Cux1	G	A	5: 136,333,572 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,035,089 (GRCm39)	M256V	probably benign	Het
Gzf1	C	A	2: 148,532,916 (GRCm39)	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,815,335 (GRCm39)	D575E	probably benign	Het
Lypd3	A	G	7: 24,340,018 (GRCm39)	M362V	probably benign	Het
Mppe1	C	A	18: 67,370,515 (GRCm39)	G61*	probably null	Het
Nr2c2	T	A	6: 92,135,397 (GRCm39)	D328E	probably benign	Het
Or6b9	T	C	7: 106,555,634 (GRCm39)	N170D	probably damaging	Het
Pfn4	T	A	12: 4,825,505 (GRCm39)	V114E	probably damaging	Het
Rab14	T	C	2: 35,073,398 (GRCm39)		probably benign	Het
Slc30a9	G	T	5: 67,499,486 (GRCm39)	G315C	probably damaging	Het
Spag16	A	T	1: 69,935,681 (GRCm39)	S303C	probably benign	Het
Spata16	C	T	3: 26,967,333 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,120,823 (GRCm39)	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,297,593 (GRCm39)		probably benign	Het
Vmn1r18	A	T	6: 57,367,482 (GRCm39)	F24Y	probably benign	Het
Vmn1r78	A	T	7: 11,887,165 (GRCm39)	T259S	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
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
IGL02132:Zc3h13	APN	14	75,567,787 (GRCm39)	missense	probably benign	0.10
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

2013-06-21