Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02410:Fam167b'

292269

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam167b

Ensembl Gene

ENSMUSG00000050493

Gene Name

family with sequence similarity 167, member B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02410

Quality Score

Status

Chromosome

Chromosomal Location

129470608-129472342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129472011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 53 (A53V)

Ref Sequence

ENSEMBL: ENSMUSP00000050531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052835] [ENSMUST00000102596]

AlphaFold

P17257

Predicted Effect

probably benign
Transcript: ENSMUST00000052835
AA Change: A53V

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050531
Gene: ENSMUSG00000050493
AA Change: A53V

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
Pfam:DUF3259	89	162	1.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102596

SMART Domains

Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409

Domain	Start	End	E-Value	Type
SH3	64	120	3.53e-17	SMART
SH2	125	215	2.07e-34	SMART
TyrKc	245	494	2.66e-133	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142699

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	G	A	1: 165,337,977 (GRCm39)	C197Y	probably damaging	Het
Ano2	A	G	6: 125,792,496 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,967,398 (GRCm39)	V539A	possibly damaging	Het
Bnip3	C	A	7: 138,500,528 (GRCm39)	G21C	probably damaging	Het
Cul1	T	A	6: 47,461,948 (GRCm39)	M37K	probably damaging	Het
Dazl	T	C	17: 50,600,426 (GRCm39)		probably benign	Het
Dsg2	A	G	18: 20,735,189 (GRCm39)	T1056A	probably benign	Het
Ewsr1	A	G	11: 5,043,863 (GRCm39)		probably benign	Het
Fat3	T	C	9: 15,909,141 (GRCm39)	Y2287C	probably damaging	Het
H2-M10.3	A	T	17: 36,677,428 (GRCm39)	H283Q	probably damaging	Het
Hectd2	C	T	19: 36,572,613 (GRCm39)	R39*	probably null	Het
Hnrnph3	A	G	10: 62,851,503 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,518,093 (GRCm39)	V362A	probably benign	Het
Igkv9-120	A	C	6: 68,027,027 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lamc3	A	G	2: 31,795,977 (GRCm39)	T417A	probably damaging	Het
Loxhd1	T	C	18: 77,490,648 (GRCm39)	V1307A	probably benign	Het
Mpdz	T	C	4: 81,215,730 (GRCm39)	E1511G	probably benign	Het
Nprl3	A	T	11: 32,217,539 (GRCm39)	M1K	probably null	Het
Or9i2	A	G	19: 13,816,495 (GRCm39)	I14T	probably benign	Het
Ppp1r15a	A	G	7: 45,173,479 (GRCm39)	V443A	probably damaging	Het
Psmd1	T	G	1: 86,005,159 (GRCm39)	L198V	probably damaging	Het
Rapgef4	A	T	2: 72,056,938 (GRCm39)	I566F	possibly damaging	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Siah2	T	C	3: 58,583,468 (GRCm39)	R273G	probably damaging	Het
Siglecg	C	T	7: 43,058,253 (GRCm39)	P47S	probably damaging	Het
Sox6	A	G	7: 115,085,979 (GRCm39)	S621P	probably damaging	Het
Spata31e5	A	G	1: 28,817,712 (GRCm39)	S107P	probably benign	Het
Ttn	C	A	2: 76,555,278 (GRCm39)	A30576S	probably benign	Het
Ttyh1	A	G	7: 4,136,898 (GRCm39)		probably benign	Het
Ush2a	C	T	1: 188,648,194 (GRCm39)	R4600C	probably damaging	Het
Usp36	C	T	11: 118,167,011 (GRCm39)	V289M	probably damaging	Het

Other mutations in Fam167b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01905:Fam167b	APN	4	129,470,892 (GRCm39)	missense	probably damaging	0.99
IGL03057:Fam167b	APN	4	129,471,960 (GRCm39)	missense	possibly damaging	0.94
R0648:Fam167b	UTSW	4	129,472,150 (GRCm39)	missense	probably benign	0.24
R0725:Fam167b	UTSW	4	129,472,078 (GRCm39)	missense	probably damaging	0.99
R1681:Fam167b	UTSW	4	129,472,069 (GRCm39)	missense	probably benign	0.34
R4755:Fam167b	UTSW	4	129,472,135 (GRCm39)	missense	probably damaging	0.98
R5372:Fam167b	UTSW	4	129,472,092 (GRCm39)	missense	possibly damaging	0.86
R6108:Fam167b	UTSW	4	129,472,101 (GRCm39)	nonsense	probably null
R9189:Fam167b	UTSW	4	129,470,875 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16