Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01859:Fam178b'

178226

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam178b

Ensembl Gene

ENSMUSG00000046337

Gene Name

family with sequence similarity 178, member B

Synonyms

1700024G10Rik, LOC381337

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01859

Quality Score

Status

Chromosome

Chromosomal Location

36562692-36683183 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36659365 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 92 (R92W)

Ref Sequence

ENSEMBL: ENSMUSP00000132846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114981] [ENSMUST00000170295]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104746

Predicted Effect

probably damaging
Transcript: ENSMUST00000114981
AA Change: R92W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124023
Gene: ENSMUSG00000046337
AA Change: R92W

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
Pfam:FAM178	89	371	3.4e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170295
AA Change: R92W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: R92W

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
Pfam:FAM178	86	385	1e-130	PFAM
low complexity region	395	410	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 104,086,137		probably benign	Het
Ak7	A	G	12: 105,745,297	M398V	probably null	Het
Angptl3	C	T	4: 99,037,432	R332*	probably null	Het
Ano7	A	G	1: 93,394,446	Y392C	probably damaging	Het
Arpc1b	T	C	5: 145,123,730	F18L	probably damaging	Het
Cdc23	G	T	18: 34,651,406	P73Q	probably benign	Het
Cdkl1	A	C	12: 69,760,129	L111R	probably damaging	Het
Cntnap2	A	G	6: 46,988,721	D822G	probably damaging	Het
Col6a5	G	A	9: 105,930,961	R963*	probably null	Het
Crocc	T	C	4: 141,029,290	D1008G	probably benign	Het
Dntt	G	T	19: 41,037,304	M120I	probably benign	Het
Dock1	A	G	7: 135,077,161	Y1003C	possibly damaging	Het
Fermt2	A	G	14: 45,459,956	V646A	possibly damaging	Het
Foxc1	T	C	13: 31,808,723	S506P	unknown	Het
Gm11127	A	T	17: 36,058,011	M59K	possibly damaging	Het
Gtpbp1	T	A	15: 79,719,140	V610E	probably benign	Het
Hsdl2	T	C	4: 59,601,569		probably null	Het
Itgb8	T	A	12: 119,189,945	R278S	probably damaging	Het
Kcnh7	T	A	2: 62,721,788	D953V	probably benign	Het
Med13	A	T	11: 86,283,751	D1749E	possibly damaging	Het
Mocos	G	T	18: 24,666,660		probably benign	Het
Pcdhb20	T	G	18: 37,504,563	N47K	probably damaging	Het
Phf21a	T	A	2: 92,328,356	F227L	probably damaging	Het
Piezo2	T	C	18: 63,092,844	E907G	probably benign	Het
Pla2g4e	G	T	2: 120,182,733	Q369K	possibly damaging	Het
Ppp3cb	A	G	14: 20,509,449	I413T	probably damaging	Het
Ptgis	A	G	2: 167,214,806		probably null	Het
Rasgrp1	A	G	2: 117,289,418	V452A	probably benign	Het
Rbms3	T	A	9: 116,959,538	D105V	probably damaging	Het
Rnase1	C	A	14: 51,145,803	Q31H	probably benign	Het
Rnase13	G	T	14: 51,922,303	N126K	probably damaging	Het
Sema5b	G	T	16: 35,647,109	V248L	possibly damaging	Het
Serpinb12	G	A	1: 106,953,834		probably null	Het
Slc4a11	A	T	2: 130,684,994	L738Q	probably damaging	Het
Spta1	A	T	1: 174,174,372	I23F	probably damaging	Het
Stk-ps2	A	T	1: 46,030,042		noncoding transcript	Het
Tcp1	A	G	17: 12,922,684	E350G	possibly damaging	Het
Tonsl	T	C	15: 76,634,780	K518E	probably damaging	Het
Trim34a	A	G	7: 104,260,942	E317G	probably damaging	Het
Trit1	A	G	4: 123,049,551	S335G	probably benign	Het
Usp28	G	T	9: 49,024,021	E91*	probably null	Het
Vmn2r56	A	G	7: 12,716,005	L102P	probably damaging	Het
Wwtr1	A	C	3: 57,477,517	L203R	possibly damaging	Het
Zfp110	T	C	7: 12,849,540	V705A	possibly damaging	Het
Zfp955a	T	C	17: 33,243,719	N67S	probably benign	Het

Other mutations in Fam178b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Fam178b	APN	1	36564403	missense	possibly damaging	0.90
IGL01128:Fam178b	APN	1	36644354	missense	probably damaging	1.00
R0398:Fam178b	UTSW	1	36632406	splice site	probably benign
R1116:Fam178b	UTSW	1	36578588	nonsense	probably null
R1613:Fam178b	UTSW	1	36600192	missense	probably benign	0.01
R1623:Fam178b	UTSW	1	36644324	missense	probably damaging	1.00
R2276:Fam178b	UTSW	1	36632458	missense	probably damaging	1.00
R3706:Fam178b	UTSW	1	36608448	missense	probably damaging	1.00
R4535:Fam178b	UTSW	1	36600525	missense	probably benign	0.43
R4784:Fam178b	UTSW	1	36632415	splice site	probably null
R5372:Fam178b	UTSW	1	36564848	missense	possibly damaging	0.95
R5431:Fam178b	UTSW	1	36632485	missense	probably damaging	1.00
R6808:Fam178b	UTSW	1	36600135	missense	probably damaging	1.00
R7117:Fam178b	UTSW	1	36600467	missense	probably benign	0.04
R7308:Fam178b	UTSW	1	36659407	missense	probably benign
R7573:Fam178b	UTSW	1	36632452	missense	probably damaging	1.00
R7678:Fam178b	UTSW	1	36564451	missense	probably damaging	1.00

Posted On

2014-05-07