Mutagenetix > Incidental Mutation

Incidental Mutation 'R5432:Zc3h13'

428118

Institutional Source

Beutler Lab

Gene Symbol

Zc3h13

Ensembl Gene

ENSMUSG00000022000

Gene Name

zinc finger CCCH type containing 13

Synonyms

3110050K21Rik, C87618, 4930570G11Rik, 2600010B19Rik

MMRRC Submission

042997-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5432 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75521813-75581866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75568687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1327 (S1327G)

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: S1327G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: S1327G

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: S1327G

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	A	9: 4,309,349 (GRCm39)	R30*	probably null	Het
Abca9	G	A	11: 110,032,380 (GRCm39)	R746W	possibly damaging	Het
Akap13	A	G	7: 75,252,578 (GRCm39)	E236G	probably damaging	Het
Asb4	A	C	6: 5,430,912 (GRCm39)	R382S	probably damaging	Het
Bahcc1	T	C	11: 120,178,814 (GRCm39)	S2458P	probably benign	Het
Bspry	T	C	4: 62,400,952 (GRCm39)	V148A	probably benign	Het
Cacna2d3	A	C	14: 28,665,512 (GRCm39)		probably null	Het
Cblb	T	A	16: 51,963,228 (GRCm39)	H390Q	probably damaging	Het
Cct8l1	T	C	5: 25,721,305 (GRCm39)	S7P	possibly damaging	Het
Cep295	T	C	9: 15,262,991 (GRCm39)	T191A	possibly damaging	Het
Cts8	A	C	13: 61,398,826 (GRCm39)	F227V	probably benign	Het
Elac1	T	C	18: 73,875,864 (GRCm39)	T56A	possibly damaging	Het
Fjx1	T	C	2: 102,280,864 (GRCm39)	N357S	possibly damaging	Het
Gm5414	T	C	15: 101,533,069 (GRCm39)	T453A	probably damaging	Het
Hcls1	G	A	16: 36,781,910 (GRCm39)	E340K	probably benign	Het
Hrc	C	A	7: 44,986,285 (GRCm39)	H479N	possibly damaging	Het
Ikzf4	A	G	10: 128,470,047 (GRCm39)	V491A	probably damaging	Het
Kalrn	A	G	16: 33,873,992 (GRCm39)	S138P	probably damaging	Het
Lama3	G	T	18: 12,705,123 (GRCm39)	D3062Y	probably damaging	Het
Lcor	A	G	19: 41,573,042 (GRCm39)	E599G	probably damaging	Het
Llgl1	T	C	11: 60,598,449 (GRCm39)	S442P	probably benign	Het
Macf1	T	A	4: 123,353,129 (GRCm39)	K1517*	probably null	Het
Myo9a	A	T	9: 59,772,953 (GRCm39)	Y995F	possibly damaging	Het
Nek3	A	C	8: 22,638,748 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,923 (GRCm39)	T531A	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2m12	A	T	16: 19,104,839 (GRCm39)	I218N	probably benign	Het
Pdia4	A	G	6: 47,775,400 (GRCm39)	V470A	possibly damaging	Het
Pinlyp	T	C	7: 24,241,892 (GRCm39)	D105G	probably damaging	Het
Pla2g6	A	G	15: 79,186,817 (GRCm39)		probably null	Het
Plpp7	A	G	2: 31,985,932 (GRCm39)	S37G	probably benign	Het
Prdm11	G	T	2: 92,806,158 (GRCm39)	P264Q	probably benign	Het
Rbl2	G	T	8: 91,828,911 (GRCm39)	R604L	probably benign	Het
Rfx7	A	G	9: 72,500,584 (GRCm39)	T115A	probably benign	Het
Samd4	A	G	14: 47,311,519 (GRCm39)	Q279R	probably benign	Het
Sdha	G	T	13: 74,475,068 (GRCm39)	A591D	probably damaging	Het
Secisbp2	AAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCA	13: 51,828,002 (GRCm39)		probably benign	Het
Sephs2	G	A	7: 126,872,977 (GRCm39)	R39W	probably damaging	Het
Serpina3f	T	C	12: 104,186,577 (GRCm39)	I381T	possibly damaging	Het
Shd	A	T	17: 56,283,214 (GRCm39)	Q281L	probably damaging	Het
Sik3	A	G	9: 46,034,539 (GRCm39)	S98G	probably benign	Het
Srgap1	T	A	10: 121,705,728 (GRCm39)	N232I	probably damaging	Het
Thbs1	A	T	2: 117,945,164 (GRCm39)	N246Y	probably benign	Het
Usp9y	A	G	Y: 1,368,022 (GRCm39)		probably null	Het
Vwde	A	G	6: 13,190,591 (GRCm39)	M500T	probably damaging	Het
Wdr72	T	G	9: 74,183,228 (GRCm39)	S1053R	probably damaging	Het
Yif1b	T	C	7: 28,945,393 (GRCm39)	C192R	probably damaging	Het
Zfp1004	A	G	2: 150,033,901 (GRCm39)	N74S	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAATCGAAGTCACCGCAG -3'
(R):5'- AGCCTAGGCACTGATACAGCTG -3'

Sequencing Primer
(F):5'- ACACCTCTGGTCGCCTACG -3'
(R):5'- GGCACTGATACAGCTGATTTTTC -3'

Posted On

2016-09-01