Mutagenetix > Incidental Mutation

Incidental Mutation 'R3954:Zc3h13'

308123

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

040831-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75521813-75581866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75567178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 921 (S921T)

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: S921T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: S921T

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: S921T

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (42/43)

Allele List at MGI

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

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Aagab	A	G	9: 63,526,442 (GRCm39)	E155G	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Ankle2	A	G	5: 110,399,541 (GRCm39)	T633A	probably benign	Het
Arhgef19	A	G	4: 140,983,645 (GRCm39)	Y726C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
B3galnt2	A	G	13: 14,141,039 (GRCm39)	Q87R	probably benign	Het
Carmil1	A	G	13: 24,197,390 (GRCm39)	S1349P	probably benign	Het
Cfap52	C	A	11: 67,821,691 (GRCm39)	V446L	probably benign	Het
Cgnl1	T	C	9: 71,631,945 (GRCm39)	N469D	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dlg1	T	C	16: 31,676,826 (GRCm39)	Y792H	probably damaging	Het
Dusp13b	T	A	14: 21,790,175 (GRCm39)	D57V	probably damaging	Het
Galnt6	A	G	15: 100,595,049 (GRCm39)	V484A	possibly damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igkv4-79	A	G	6: 69,020,229 (GRCm39)	S29P	possibly damaging	Het
Lamp5	G	A	2: 135,902,928 (GRCm39)	D216N	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Ncam2	G	A	16: 81,386,612 (GRCm39)	V664M	probably damaging	Het
Ndst4	T	C	3: 125,231,554 (GRCm39)	M41T	probably benign	Het
Nkx6-3	G	T	8: 23,643,742 (GRCm39)	A48S	possibly damaging	Het
Ntng2	A	G	2: 29,097,547 (GRCm39)	C305R	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Odad1	A	G	7: 45,591,100 (GRCm39)	K192E	probably damaging	Het
Omd	A	T	13: 49,743,213 (GRCm39)	I88F	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Pi4k2a	G	A	19: 42,104,338 (GRCm39)	A367T	probably damaging	Het
Pramel30	A	C	4: 144,058,238 (GRCm39)	M282L	probably benign	Het
Prph2	T	C	17: 47,221,644 (GRCm39)	F8L	probably benign	Het
Qng1	A	G	13: 58,532,203 (GRCm39)	S118P	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Vmn1r124	A	G	7: 20,994,448 (GRCm39)	V32A	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAGGATCGCTCTGACAG -3'
(R):5'- TACTAGGAAAGATAGTGGCCTGGTG -3'

Sequencing Primer
(F):5'- CAGCGTTACTGTCTGTAATTGTATG -3'
(R):5'- GTGGCCTGGTGTAAAAACAGTATTCC -3'

Posted On

2015-04-17