Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01070:Fam178b'

50195

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

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

36562692-36683183 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36564403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 489 (R489Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132846 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149224

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170295
AA Change: R489Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: R489Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193763

Predicted Effect

unknown
Transcript: ENSMUST00000194025
AA Change: G92R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194426

Predicted Effect

probably benign
Transcript: ENSMUST00000194839

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078	V507I	probably benign	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997	I78L	possibly damaging	Het
Nrap	T	C	19: 56,329,084	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Fam178b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Fam178b	APN	1	36644354	missense	probably damaging	1.00
IGL01859:Fam178b	APN	1	36659365	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
R9786:Fam178b	UTSW	1	36564436	missense	probably damaging	0.97

Posted On

2013-06-21