Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01955:Zc3h7b'

181426

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01955

Quality Score

Status

Chromosome

Chromosomal Location

81745057-81796260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81792004 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 704 (N704D)

Ref Sequence

ENSEMBL: ENSMUSP00000105181 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109554
AA Change: N704D

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: N704D

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,573,995		noncoding transcript	Het
Abcc1	T	A	16: 14,410,795	I302N	probably damaging	Het
Abhd16a	A	G	17: 35,101,340	S394G	probably damaging	Het
Adgrv1	T	C	13: 81,182,783	Y71C	probably damaging	Het
Apol8	A	G	15: 77,749,699	C226R	probably benign	Het
Armc4	C	T	18: 7,127,291	R974Q	possibly damaging	Het
Bbs7	A	G	3: 36,610,322	S45P	probably benign	Het
Cacna1b	T	C	2: 24,639,137	Y1575C	probably damaging	Het
Cckbr	T	A	7: 105,434,962	V301E	probably damaging	Het
Cwc27	A	G	13: 104,807,737	Y79H	probably damaging	Het
Dchs1	T	C	7: 105,757,591	T2236A	probably benign	Het
Ddx50	T	C	10: 62,647,183	R36G	probably benign	Het
Extl3	T	A	14: 65,075,966	Y589F	probably benign	Het
Gab2	T	C	7: 97,304,223	V601A	probably damaging	Het
Hsd3b1	T	A	3: 98,853,147	N176I	probably benign	Het
L3mbtl3	A	T	10: 26,318,438	S420R	unknown	Het
Olfr1000	A	G	2: 85,608,707	F68L	probably benign	Het
Olfr319	T	C	11: 58,702,129	S143P	probably damaging	Het
Olfr589	T	A	7: 103,154,854	K298*	probably null	Het
Polr2a	T	C	11: 69,741,848	D974G	probably damaging	Het
Ptges3l	T	C	11: 101,423,818	K13E	possibly damaging	Het
Ptprk	A	G	10: 28,595,865		probably benign	Het
Rassf3	T	C	10: 121,417,122	Y60C	probably damaging	Het
Rnf157	T	C	11: 116,359,896	T160A	probably damaging	Het
Secisbp2l	A	G	2: 125,743,812		probably null	Het
Setd2	A	G	9: 110,549,318	T734A	probably benign	Het
Skint5	A	G	4: 113,623,736		probably null	Het
Slc38a9	A	G	13: 112,695,418		probably benign	Het
Snx17	T	G	5: 31,197,082		probably benign	Het
Tas2r113	A	T	6: 132,893,854	M282L	probably benign	Het
Tbc1d31	A	G	15: 57,942,370	N404D	probably benign	Het
Tmem63c	A	T	12: 87,077,208	I487F	probably benign	Het
Tpm3	A	G	3: 90,088,435	M164V	probably benign	Het
Trafd1	G	T	5: 121,375,154	N340K	probably benign	Het
Trpv4	T	A	5: 114,622,682	K863*	probably null	Het
Ttn	A	T	2: 76,797,352	M13003K	possibly damaging	Het
Tulp1	G	A	17: 28,356,424	T103M	probably damaging	Het
Unc5b	T	C	10: 60,778,255	T272A	probably benign	Het
Vmn1r82	A	C	7: 12,305,723		probably null	Het

Other mutations in Zc3h7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zc3h7b	APN	15	81771799	missense	possibly damaging	0.95
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
R7450:Zc3h7b	UTSW	15	81783080	missense	probably benign
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

Posted On

2014-05-07