Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Zc3h13'

511048

Institutional Source

Beutler Lab

Gene Symbol

Zc3h13

Ensembl Gene

ENSMUSG00000022000

Gene Name

zinc finger CCCH type containing 13

Synonyms

4930570G11Rik, 3110050K21Rik, 2600010B19Rik, C87618

Accession Numbers

Genbank: NM_026083

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

FR4304 ()

Quality Score

217.475

Status

Not validated

Chromosome

Chromosomal Location

75284373-75344426 bp(+) (GRCm38)

Type of Mutation

small insertion (3 aa in frame mutation)

DNA Base Change (assembly)

AGATGTGCG to AGATGTGCGGGATGTGCG at 75323603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153882 (fasta)

Gene Model

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

AlphaFold

E9Q784

Predicted Effect

probably benign
Transcript: ENSMUST00000022577

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000

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

probably benign
Transcript: ENSMUST00000227049

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 96.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 136 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Homo
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,748		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,881,287		probably benign	Homo
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 103,104,105		probably null	Homo
Ahdc1	CT	CTCTT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 81,077,762		probably benign	Het
Anapc4	C	T	5: 52,864,526	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,560,924		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,683,847		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,281,997		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 77,051,436		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,405,168		probably benign	Het
Arpc1b	GCC	GCCTGTCC	5: 145,126,791		probably null	Het
BC051142	A	AGCC	17: 34,460,055		probably benign	Het
BC051142	GC	GCATC	17: 34,460,077		probably benign	Het
Blm	CT	CTACGT	7: 80,463,773		probably null	Homo
Blm	TCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCC	7: 80,512,919		probably benign	Het
Btnl10	GA	GAATA	11: 58,923,930		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,620,061		probably benign	Het
Calhm3	CG	CGG	19: 47,151,896		probably null	Homo
Catsper2	C	CTTTTACTTTTTA	2: 121,397,542		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Ccdc15	AC	ACTTTCC	9: 37,315,157		probably null	Het
Ccdc162	T	C	10: 41,556,121	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,561,021		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,274,612		probably benign	Het
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,486,315		probably benign	Homo
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap74	A	G	4: 155,415,760	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 30,933,780		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,122,144		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 46,736,743		probably benign	Het
Cnpy3	TCC	TCCACC	17: 46,736,746		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,189,589		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,458		probably benign	Het
Dhx37	CTGG	C	5: 125,427,530		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dst	C	A	1: 34,200,964	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,775,290		probably benign	Homo
Ermn	TTC	TTCCTC	2: 58,048,078		probably benign	Het
Ermn	CTT	CTTGTT	2: 58,048,086		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,094		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,097		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,100		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,196,072		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,082		probably benign	Het
Gm5114	T	C	7: 39,411,105	R107G	probably benign	Het
Gm5114	A	C	7: 39,411,106	H106Q	probably benign	Het
Gm9573	T	G	17: 35,622,121		probably benign	Homo
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,120,281		probably null	Het
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Ifi203	C	T	1: 173,928,328		probably benign	Het
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Il17rd	CGG	CGGTGG	14: 27,082,680		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,125,826		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,386,279		probably null	Het
Isg20l2	AAG	AAGCAG	3: 87,931,712		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,363		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,315,766		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,389,274		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,820		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,821		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579		probably benign	Het
Lrch1	A	T	14: 74,819,565	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,788,819		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,621,459		probably benign	Homo
Mast4	T	TTTC	13: 102,734,862		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Noc2l	TGC	TGCAGC	4: 156,240,096		probably benign	Het
Nrg3	G	GACATTT	14: 38,397,273		probably benign	Homo
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Het
Patl2	GCT	GCTTCT	2: 122,126,135		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,635,656		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,479,858		probably benign	Het
Prkd3	G	T	17: 78,975,820		probably null	Homo
Prr13	TCC	TCCCCC	15: 102,462,177		probably benign	Homo
Prrc2b	G	A	2: 32,221,167	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,914,458		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,591,198		probably benign	Homo
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,621,368		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 99,066,505		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647		probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,727,664		probably null	Het
Sytl1	CTCT	C	4: 133,256,993		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,835,742		probably benign	Het
Tdpoz2	T	TCA	3: 93,651,615		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,648,302		probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Ticrr	ATT	ATTTTT	7: 79,694,311		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839		probably null	Homo
Tnfrsf9	T	TGCC	4: 150,934,395		probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	CA	CAGTA	11: 94,214,477		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,993,387		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,069		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,306,958		probably benign	Het
Vars	TGG	TGGAGTCCTGGGCGG	17: 35,015,989		probably benign	Homo
Vmn1r171	C	T	7: 23,632,680	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,384,608	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zfp282	GGC	GGCCGC	6: 47,904,797		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,036,493		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,408,274		probably null	Homo
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,645,481		probably benign	Het

Other mutations in Zc3h13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Zc3h13	APN	14	75330147	missense	probably damaging	0.99
IGL01129:Zc3h13	APN	14	75335999	missense	probably damaging	1.00
IGL01599:Zc3h13	APN	14	75309723	missense	probably damaging	1.00
IGL01844:Zc3h13	APN	14	75343769	utr 3 prime	probably benign
IGL02132:Zc3h13	APN	14	75330347	missense	probably benign	0.10
IGL03108:Zc3h13	APN	14	75331766	missense	possibly damaging	0.73
IGL03299:Zc3h13	APN	14	75293941	missense	probably damaging	1.00
IGL03377:Zc3h13	APN	14	75293976	missense	possibly damaging	0.53
B5639:Zc3h13	UTSW	14	75316039	missense	probably damaging	1.00
FR4304:Zc3h13	UTSW	14	75323610	small insertion	probably benign
FR4340:Zc3h13	UTSW	14	75323592	small insertion	probably benign
FR4449:Zc3h13	UTSW	14	75323601	nonsense	probably null
FR4548:Zc3h13	UTSW	14	75323599	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75323592	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75323597	small insertion	probably benign
FR4589:Zc3h13	UTSW	14	75323598	small insertion	probably benign
FR4737:Zc3h13	UTSW	14	75323596	small insertion	probably benign
FR4737:Zc3h13	UTSW	14	75323599	small insertion	probably benign
PIT4696001:Zc3h13	UTSW	14	75331883	missense	probably damaging	1.00
R0103:Zc3h13	UTSW	14	75330468	missense	probably damaging	0.98
R0103:Zc3h13	UTSW	14	75330468	missense	probably damaging	0.98
R0127:Zc3h13	UTSW	14	75323254	missense	unknown
R0374:Zc3h13	UTSW	14	75308965	missense	probably damaging	1.00
R0396:Zc3h13	UTSW	14	75323482	missense	unknown
R0408:Zc3h13	UTSW	14	75292186	nonsense	probably null
R0967:Zc3h13	UTSW	14	75343739	missense	possibly damaging	0.54
R1006:Zc3h13	UTSW	14	75330549	missense	probably damaging	0.99
R1142:Zc3h13	UTSW	14	75315984	missense	probably benign	0.14
R1605:Zc3h13	UTSW	14	75337483	nonsense	probably null
R2021:Zc3h13	UTSW	14	75330195	missense	probably damaging	0.96
R2270:Zc3h13	UTSW	14	75332147	missense	probably benign	0.03
R3508:Zc3h13	UTSW	14	75308940	nonsense	probably null
R3745:Zc3h13	UTSW	14	75330661	missense	probably benign	0.03
R3954:Zc3h13	UTSW	14	75329738	missense	possibly damaging	0.85
R4205:Zc3h13	UTSW	14	75327601	missense	unknown
R4799:Zc3h13	UTSW	14	75339423	missense	probably damaging	1.00
R5042:Zc3h13	UTSW	14	75339396	missense	probably damaging	0.98
R5133:Zc3h13	UTSW	14	75336009	missense	probably damaging	1.00
R5384:Zc3h13	UTSW	14	75343619	missense	probably benign	0.14
R5432:Zc3h13	UTSW	14	75331247	missense	probably damaging	1.00
R5611:Zc3h13	UTSW	14	75330908	missense	probably benign	0.10
R5687:Zc3h13	UTSW	14	75331960	nonsense	probably null
R5726:Zc3h13	UTSW	14	75330829	missense	possibly damaging	0.84
R5817:Zc3h13	UTSW	14	75328132	missense	probably damaging	0.96
R6087:Zc3h13	UTSW	14	75330709	missense	probably damaging	0.96
R6224:Zc3h13	UTSW	14	75337409	missense	probably damaging	0.99
R6247:Zc3h13	UTSW	14	75343736	missense	probably benign	0.14
R6278:Zc3h13	UTSW	14	75330423	missense	probably benign	0.01
R6315:Zc3h13	UTSW	14	75308915	missense	probably damaging	1.00
R6490:Zc3h13	UTSW	14	75323558	small deletion	probably benign
R6598:Zc3h13	UTSW	14	75332183	missense	probably damaging	0.99
R7051:Zc3h13	UTSW	14	75331157	missense	probably damaging	1.00
R7054:Zc3h13	UTSW	14	75321787	missense	probably benign	0.19
R7135:Zc3h13	UTSW	14	75321721	missense	unknown
R7307:Zc3h13	UTSW	14	75330541	missense	probably damaging	0.96
R7515:Zc3h13	UTSW	14	75308909	missense	unknown
R7680:Zc3h13	UTSW	14	75330515	missense	probably damaging	0.99
R8031:Zc3h13	UTSW	14	75330630	missense	not run
R8048:Zc3h13	UTSW	14	75324537	missense	unknown
R8059:Zc3h13	UTSW	14	75327810	missense	unknown
R8362:Zc3h13	UTSW	14	75324469	missense	unknown
R8391:Zc3h13	UTSW	14	75331185	missense	probably damaging	1.00
R8724:Zc3h13	UTSW	14	75332072	missense	probably benign	0.05
R9081:Zc3h13	UTSW	14	75331941	small deletion	probably benign
R9082:Zc3h13	UTSW	14	75331941	small deletion	probably benign
R9101:Zc3h13	UTSW	14	75323602	missense	unknown
R9214:Zc3h13	UTSW	14	75323551	missense	unknown
R9308:Zc3h13	UTSW	14	75327978	missense	unknown
R9376:Zc3h13	UTSW	14	75323688	missense	unknown
R9618:Zc3h13	UTSW	14	75330102	missense
R9665:Zc3h13	UTSW	14	75330549	missense	probably damaging	0.99
Z1177:Zc3h13	UTSW	14	75328065	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAGACTCCAGAGACATGCG -3'
(R):5'- AGAACTCTCTTCTCTCAGGTGG -3'

Sequencing Primer
(F):5'- TCCAGAGACATGCGGGACTC -3'
(R):5'- CAGGTGGTTTCTGCCATAACTGC -3'

Posted On

2018-04-05