Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03108:Zc3h13'

419082

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: 0.959) question?

Stock #

IGL03108

Quality Score

Status

Chromosome

Chromosomal Location

75521813-75581866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75569206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1351 (V1351A)

Ref Sequence

ENSEMBL: ENSMUSP00000022577 (fasta)

Gene Model

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

AlphaFold

E9Q784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022577
AA Change: V1351A

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: V1351A

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: V1351A

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,707,648 (GRCm39)	V1253F	probably damaging	Het
Apbb2	A	G	5: 66,557,574 (GRCm39)	W296R	probably damaging	Het
Armh3	G	A	19: 45,808,792 (GRCm39)	T633I	probably damaging	Het
Btbd3	T	C	2: 138,126,043 (GRCm39)	V409A	possibly damaging	Het
C130050O18Rik	A	T	5: 139,400,820 (GRCm39)	D291V	probably damaging	Het
Catsper3	A	G	13: 55,955,848 (GRCm39)	N318D	probably benign	Het
Chd1	T	A	17: 15,945,543 (GRCm39)	D22E	possibly damaging	Het
Chrnb2	G	A	3: 89,670,681 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,029,162 (GRCm39)	G550D	probably damaging	Het
Cryl1	T	C	14: 57,550,534 (GRCm39)	D110G	probably damaging	Het
Deaf1	A	G	7: 140,902,874 (GRCm39)	I150T	probably damaging	Het
Eif3a	A	T	19: 60,770,747 (GRCm39)	D33E	possibly damaging	Het
Fabp12	C	A	3: 10,315,114 (GRCm39)	G78C	probably benign	Het
Fat1	A	G	8: 45,476,651 (GRCm39)	D1899G	probably damaging	Het
Galnt13	G	A	2: 54,744,660 (GRCm39)	V120I	probably benign	Het
Ganab	G	A	19: 8,889,840 (GRCm39)	A635T	probably damaging	Het
Gm17509	G	A	13: 117,357,380 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,875,080 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,043,800 (GRCm39)		probably benign	Het
Hoxd13	A	C	2: 74,500,440 (GRCm39)	D327A	probably damaging	Het
Ints4	G	T	7: 97,140,137 (GRCm39)		probably null	Het
Kcna10	A	T	3: 107,102,259 (GRCm39)	T297S	probably benign	Het
Ldb2	G	A	5: 44,699,057 (GRCm39)	T127I	probably damaging	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Msh3	A	T	13: 92,357,596 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,217,402 (GRCm39)	S2359P	possibly damaging	Het
Mup6	A	T	4: 60,005,990 (GRCm39)	I161F	possibly damaging	Het
Nup160	G	A	2: 90,534,169 (GRCm39)	V665I	probably benign	Het
Or13a22	A	G	7: 140,073,034 (GRCm39)	N161S	possibly damaging	Het
Or14a258	T	C	7: 86,034,929 (GRCm39)	Y313C	possibly damaging	Het
Or4e5	T	A	14: 52,727,533 (GRCm39)	D296V	probably damaging	Het
Otog	G	A	7: 45,900,762 (GRCm39)	V352I	probably damaging	Het
Oxct1	T	A	15: 4,064,764 (GRCm39)	V34D	probably benign	Het
Pcdhb21	T	A	18: 37,648,944 (GRCm39)		probably null	Het
Pcdhb8	T	G	18: 37,490,299 (GRCm39)	V659G	probably damaging	Het
Plxnb2	T	C	15: 89,042,234 (GRCm39)	N1590S	probably benign	Het
Rnf168	G	T	16: 32,097,099 (GRCm39)	R56L	possibly damaging	Het
Scn8a	C	T	15: 100,872,496 (GRCm39)	P362S	probably benign	Het
Slc1a3	T	A	15: 8,668,562 (GRCm39)	I468F	probably damaging	Het
Slc39a14	G	A	14: 70,556,368 (GRCm39)	R3W	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Snrnp200	T	C	2: 127,080,087 (GRCm39)	S1955P	possibly damaging	Het
Stat5a	T	A	11: 100,753,965 (GRCm39)	Y98*	probably null	Het
Thsd7b	G	T	1: 130,138,013 (GRCm39)	G1564C	probably damaging	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
IGL02132:Zc3h13	APN	14	75,567,787 (GRCm39)	missense	probably benign	0.10
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

2016-08-02