Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Zc3h13'

21478

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

038412-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75521813-75581866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75560694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 428 (D428V)

Ref Sequence

ENSEMBL: ENSMUSP00000153882 (fasta)

Gene Model

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

AlphaFold

E9Q784

Predicted Effect

unknown
Transcript: ENSMUST00000022577
AA Change: D428V

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: D428V

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

noncoding transcript
Transcript: ENSMUST00000226417

Predicted Effect

unknown
Transcript: ENSMUST00000227049
AA Change: D428V

Meta Mutation Damage Score

0.0655

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

Allele List at MGI

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

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,342 (GRCm39)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm39)	I1351V	probably benign	Het
Acap1	A	T	11: 69,778,043 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,720,935 (GRCm39)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,510,384 (GRCm39)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,556,112 (GRCm39)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,945,491 (GRCm39)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,945,057 (GRCm39)	D371E	probably benign	Het
Bphl	A	G	13: 34,248,029 (GRCm39)		probably benign	Het
Caskin2	C	A	11: 115,691,820 (GRCm39)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,406,875 (GRCm39)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,901,999 (GRCm39)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 54,957,169 (GRCm39)	F83L	probably damaging	Het
Cep290	T	A	10: 100,372,787 (GRCm39)		probably benign	Het
Cep89	C	A	7: 35,127,687 (GRCm39)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,610,738 (GRCm39)	M45V	probably benign	Het
Col16a1	T	A	4: 129,946,650 (GRCm39)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,845,326 (GRCm39)	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,554,190 (GRCm39)		probably benign	Het
Dao	T	A	5: 114,158,024 (GRCm39)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,313,617 (GRCm39)	D885G	probably benign	Het
Dlx4	T	G	11: 95,032,055 (GRCm39)	M240L	probably benign	Het
Dnah5	C	T	15: 28,295,071 (GRCm39)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,015,717 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,083,491 (GRCm39)	D139E	probably benign	Het
Dynlt5	T	C	4: 102,859,649 (GRCm39)		probably benign	Het
Fam234b	T	C	6: 135,195,821 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,180,112 (GRCm39)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,815,269 (GRCm39)	N3667K	probably benign	Het
Gm5114	T	C	7: 39,057,880 (GRCm39)	I580V	probably benign	Het
Hapln1	A	T	13: 89,755,988 (GRCm39)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,972,188 (GRCm39)	V694A	probably benign	Het
Hps1	A	G	19: 42,759,550 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,681 (GRCm39)	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,168,242 (GRCm39)	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,836,465 (GRCm39)	M1V	probably null	Het
Krit1	A	G	5: 3,872,178 (GRCm39)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,224,491 (GRCm39)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,333,567 (GRCm39)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,937,232 (GRCm39)	I25V	probably benign	Het
Mep1a	A	G	17: 43,808,777 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,376,209 (GRCm39)	W466R	probably benign	Het
Muc2	C	A	7: 141,302,691 (GRCm39)	F11L	probably benign	Het
Nebl	T	A	2: 17,397,794 (GRCm39)	M501L	probably benign	Het
Oga	A	T	19: 45,760,327 (GRCm39)	I277N	probably damaging	Het
Or11g2	A	G	14: 50,855,789 (GRCm39)	I37V	probably benign	Het
Or4p18	A	G	2: 88,232,699 (GRCm39)	V193A	probably benign	Het
Or5w8	A	G	2: 87,687,827 (GRCm39)	I103V	probably benign	Het
Or8g32	A	G	9: 39,305,238 (GRCm39)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,776,787 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,418,001 (GRCm39)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,378,230 (GRCm39)	L58H	probably damaging	Het
Prkch	C	A	12: 73,768,561 (GRCm39)	H444N	possibly damaging	Het
Reln	T	C	5: 22,209,134 (GRCm39)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,703,458 (GRCm39)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,977,998 (GRCm39)	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,831,864 (GRCm39)	R101H	probably benign	Het
Rtf1	G	A	2: 119,557,224 (GRCm39)	R443H	probably damaging	Het
Serac1	G	T	17: 6,099,115 (GRCm39)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,061,682 (GRCm39)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,833,350 (GRCm39)	W456R	probably damaging	Het
Slc28a2b	T	A	2: 122,347,550 (GRCm39)		probably null	Het
Slc35f5	C	T	1: 125,503,942 (GRCm39)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,435,170 (GRCm39)	R167Q	probably benign	Het
Spag4	T	C	2: 155,909,962 (GRCm39)	V302A	probably damaging	Het
Spire2	A	C	8: 124,084,836 (GRCm39)		probably benign	Het
Sptbn2	G	T	19: 4,774,772 (GRCm39)	V142L	probably damaging	Het
Syt17	T	A	7: 118,009,164 (GRCm39)	D352V	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Thsd7a	A	G	6: 12,554,907 (GRCm39)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,767,257 (GRCm39)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,517,685 (GRCm39)	A678D	probably benign	Het
Trim12c	A	G	7: 103,990,113 (GRCm39)		probably null	Het
Tsc22d1	A	G	14: 76,656,421 (GRCm39)	T885A	possibly damaging	Het
Ttn	T	C	2: 76,572,542 (GRCm39)	D26117G	probably damaging	Het
Ttn	T	A	2: 76,707,355 (GRCm39)		probably benign	Het
Ugt3a1	T	C	15: 9,306,342 (GRCm39)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,693,160 (GRCm39)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,484,313 (GRCm39)		probably benign	Het
Wt1	C	A	2: 104,963,802 (GRCm39)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,053,608 (GRCm39)	A368V	probably benign	Het
Zcchc8	C	G	5: 123,845,400 (GRCm39)	G320A	probably damaging	Het
Znfx1	T	C	2: 166,886,130 (GRCm39)	E810G	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
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

Predicted Primers

PCR Primer
(F):5'- AAGTTCAGGCTCGATCTGCTCTCC -3'
(R):5'- GCATCCCTAGCATCTCGAACATCTC -3'

Sequencing Primer
(F):5'- tcttcctcctattactctccacc -3'
(R):5'- TGTAGTCATGGACATCCCGAG -3'

Posted On

2013-04-11