Mutagenetix > Incidental Mutations

Incidental Mutation 'R7450:Zc3h7b'

577671

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7b

Ensembl Gene

ENSMUSG00000022390

Gene Name

zinc finger CCCH type containing 7B

Synonyms

Scrg3

Accession Numbers

Genbank: NM_001081016; MGI: 1328310

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81745057-81796260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81783080 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 609 (F609L)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109554]

Predicted Effect

probably benign
Transcript: ENSMUST00000109554
AA Change: F609L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: F609L

Domain	Start	End	E-Value	Type
Pfam:TPR_11	34	113	2.3e-12	PFAM
Pfam:TPR_1	82	115	2.4e-6	PFAM
Pfam:TPR_8	82	115	8.2e-4	PFAM
Pfam:TPR_8	116	143	4.8e-3	PFAM
low complexity region	294	309	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
ZnF_C3H1	482	508	2.15e1	SMART
ZnF_C3H1	612	638	2.03e1	SMART
ZnF_C3H1	757	782	8.31e0	SMART
ZnF_C2H2	843	867	2.86e-1	SMART
ZnF_C3H1	889	914	7.81e-1	SMART
low complexity region	959	981	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(9) : Gene trapped(9)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,184,111	R746W	possibly damaging	Het
Abcc2	T	C	19: 43,822,039	L925P	probably damaging	Het
Abcc3	A	T	11: 94,361,695	H787Q	probably damaging	Het
Acly	A	T	11: 100,479,275	V987E	probably damaging	Het
Cacna1b	A	T	2: 24,635,135	Y1676*	probably null	Het
Ccdc175	T	A	12: 72,155,673	I283F	possibly damaging	Het
Cfap46	A	T	7: 139,617,437	F2173I	unknown	Het
Cln6	G	A	9: 62,850,630	E224K	probably damaging	Het
Cyp1a1	T	A	9: 57,702,132	L372Q	probably damaging	Het
Dirc2	T	C	16: 35,768,974	I90V	possibly damaging	Het
Dnah8	T	A	17: 30,787,191	I3694N	probably damaging	Het
Dnal1	T	C	12: 84,124,523	Y31H	probably benign	Het
Eid3	T	A	10: 82,866,903	M66K	probably benign	Het
Epo	T	A	5: 137,483,235	E143D	probably damaging	Het
Fbxo25	C	A	8: 13,931,235	N236K	probably benign	Het
Fsip2	A	G	2: 82,951,680	I266V	probably benign	Het
Galnt6	T	C	15: 100,697,815	Y444C	probably damaging	Het
Gm14139	A	G	2: 150,193,126	T456A	probably benign	Het
Gm8251	A	G	1: 44,058,773	V1055A	probably benign	Het
Gna11	T	C	10: 81,532,522	Y160C		Het
Hectd4	A	T	5: 121,281,932	T647S	probably benign	Het
Hgd	T	C	16: 37,624,324	V316A	possibly damaging	Het
Idh3a	T	C	9: 54,596,083	V142A	probably damaging	Het
Il3ra	T	A	14: 14,351,090	I297N	probably benign	Het
Kcnj5	T	G	9: 32,322,195	I275L	possibly damaging	Het
Kdm7a	A	T	6: 39,143,251	L928Q	probably damaging	Het
Kmo	A	G	1: 175,639,100	I75V	probably benign	Het
Krtap1-3	C	A	11: 99,590,871	C150F	unknown	Het
Lingo3	C	A	10: 80,834,837	E420*	probably null	Het
Lrrc37a	A	G	11: 103,498,326	V2091A	probably benign	Het
N4bp2	T	A	5: 65,825,300	Y1632*	probably null	Het
Nlrp1a	C	A	11: 71,107,658	G905V	probably damaging	Het
Nlrp9c	T	A	7: 26,364,939	E988V	probably benign	Het
Nol8	T	G	13: 49,660,015	H179Q	probably benign	Het
Notch3	G	A	17: 32,141,391	P1522L	possibly damaging	Het
Nup210l	T	C	3: 90,115,188		probably null	Het
Oas1b	T	A	5: 120,821,256	Y234*	probably null	Het
Olfr109	C	A	17: 37,466,616	Q137K	probably benign	Het
Olfr1150-ps1	A	C	2: 87,846,459	K63Q	probably damaging	Het
Olfr129	T	C	17: 38,055,109	I152M	probably benign	Het
Olfr271-ps1	T	A	4: 52,936,113	K57*	probably null	Het
Olfr786	A	C	10: 129,437,429	M206L	probably benign	Het
Pag1	T	C	3: 9,699,539	T185A	probably damaging	Het
Palmd	A	T	3: 116,927,643	S100T	probably damaging	Het
Papln	C	A	12: 83,780,171	A690E	probably benign	Het
Pcdhga7	C	T	18: 37,716,026	T362M	probably benign	Het
Pmpcb	T	A	5: 21,746,985	V286E	possibly damaging	Het
Pon3	T	C	6: 5,236,940	I142M	possibly damaging	Het
Prdx6	A	G	1: 161,241,816	S194P	probably benign	Het
Rapgef2	T	C	3: 79,173,059	E112G	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rps6kb1	T	A	11: 86,502,831	E491V	probably benign	Het
Sema3d	C	T	5: 12,584,934	Q656*	probably null	Het
Shisa6	A	T	11: 66,218,006	D348E	probably benign	Het
Slc16a7	G	T	10: 125,228,051	H472Q	probably benign	Het
Slc9a2	A	G	1: 40,681,835		probably benign	Het
Smad4	A	G	18: 73,677,853	V20A	probably damaging	Het
Spata5	T	C	3: 37,456,785	L697S	probably damaging	Het
Sstr3	G	A	15: 78,539,843	R235W	probably damaging	Het
Svep1	T	A	4: 58,064,248	H3245L	possibly damaging	Het
Tra2a	G	A	6: 49,250,985	R70*	probably null	Het
Trav7-4	G	T	14: 53,461,467	V24L	probably benign	Het
Tsc2	C	A	17: 24,600,031	S1278I	probably damaging	Het
Ubtf	A	G	11: 102,306,649	S726P	unknown	Het
Vmn2r42	A	T	7: 8,184,221	Y851N	probably benign	Het
Wwp1	A	G	4: 19,640,016	Y509H	probably damaging	Het
Xirp2	A	C	2: 67,509,815	Q800P	possibly damaging	Het
Zdhhc8	G	T	16: 18,225,171	H388Q	probably benign	Het
Zfp644	T	C	5: 106,638,526	K52E	probably benign	Het
Zfp82	T	G	7: 30,056,895	E254A	probably damaging	Het

Other mutations in Zc3h7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zc3h7b	APN	15	81771799	missense	possibly damaging	0.95
IGL01955:Zc3h7b	APN	15	81792004	missense	probably benign	0.10
IGL02526:Zc3h7b	APN	15	81793137	missense	probably benign	0.10
IGL02582:Zc3h7b	APN	15	81769140	missense	probably benign	0.05
IGL02736:Zc3h7b	APN	15	81791974	missense	probably benign	0.02
F6893:Zc3h7b	UTSW	15	81778671	missense	possibly damaging	0.94
R0212:Zc3h7b	UTSW	15	81776328	missense	probably benign	0.00
R0242:Zc3h7b	UTSW	15	81768830	splice site	probably benign
R0471:Zc3h7b	UTSW	15	81781968	missense	probably damaging	1.00
R0590:Zc3h7b	UTSW	15	81776998	missense	possibly damaging	0.74
R1530:Zc3h7b	UTSW	15	81777088	missense	probably benign
R1563:Zc3h7b	UTSW	15	81777088	missense	probably benign
R1565:Zc3h7b	UTSW	15	81777088	missense	probably benign
R1566:Zc3h7b	UTSW	15	81768834	missense	possibly damaging	0.91
R1670:Zc3h7b	UTSW	15	81777067	missense	probably benign
R1712:Zc3h7b	UTSW	15	81777088	missense	probably benign
R1727:Zc3h7b	UTSW	15	81768029	missense	probably damaging	1.00
R2069:Zc3h7b	UTSW	15	81792328	missense	probably damaging	0.98
R2375:Zc3h7b	UTSW	15	81792502	missense	probably benign	0.17
R2656:Zc3h7b	UTSW	15	81780430	missense	probably damaging	1.00
R4660:Zc3h7b	UTSW	15	81792250	missense	probably benign	0.07
R4764:Zc3h7b	UTSW	15	81769183	critical splice donor site	probably null
R4815:Zc3h7b	UTSW	15	81793663	missense	probably damaging	1.00
R4999:Zc3h7b	UTSW	15	81779133	missense	probably damaging	1.00
R5086:Zc3h7b	UTSW	15	81793174	missense	probably damaging	0.96
R5169:Zc3h7b	UTSW	15	81773314	missense	probably benign	0.01
R5395:Zc3h7b	UTSW	15	81772501	missense	possibly damaging	0.50
R5407:Zc3h7b	UTSW	15	81785891	missense	probably damaging	0.99
R5587:Zc3h7b	UTSW	15	81771858	missense	possibly damaging	0.80
R5721:Zc3h7b	UTSW	15	81773298	missense	probably benign	0.02
R6001:Zc3h7b	UTSW	15	81792035	missense	possibly damaging	0.89
R6151:Zc3h7b	UTSW	15	81778710	critical splice donor site	probably null
R6248:Zc3h7b	UTSW	15	81783185	missense	probably damaging	1.00
R6397:Zc3h7b	UTSW	15	81792854	missense	probably benign	0.03
R6502:Zc3h7b	UTSW	15	81769051	missense	probably benign	0.01
R7248:Zc3h7b	UTSW	15	81771787	missense	possibly damaging	0.46
R7397:Zc3h7b	UTSW	15	81769153	missense	possibly damaging	0.50
R7471:Zc3h7b	UTSW	15	81780481	missense	probably damaging	1.00
R7575:Zc3h7b	UTSW	15	81777885	nonsense	probably null
R7645:Zc3h7b	UTSW	15	81780602	missense	probably damaging	1.00
R7650:Zc3h7b	UTSW	15	81793650	missense	possibly damaging	0.81
R7881:Zc3h7b	UTSW	15	81780478	missense	probably damaging	1.00
R7918:Zc3h7b	UTSW	15	81768988	missense	probably damaging	0.98
R8001:Zc3h7b	UTSW	15	81779260	nonsense	probably null
R8504:Zc3h7b	UTSW	15	81780518	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAAGCTCTGAGAATCGCCTC -3'
(R):5'- ACTCACCTGAGGTCCCATTC -3'

Sequencing Primer
(F):5'- TGAGAATCGCCTCCCCTCAG -3'
(R):5'- CCATTCGGTGGCCATCAG -3'

Posted On

2019-10-07