Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Fam26e'

104246

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam26e

Ensembl Gene

ENSMUSG00000049872

Gene Name

family with sequence similarity 26, member E

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

34087815-34096519 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34092202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 285 (V285A)

Ref Sequence

ENSEMBL: ENSMUSP00000064462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069125] [ENSMUST00000095758]

AlphaFold

Q8R100

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069125
AA Change: V285A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064462
Gene: ENSMUSG00000049872
AA Change: V285A

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	1	251	2.7e-90	PFAM
low complexity region	290	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095758

SMART Domains

Protein: ENSMUSP00000093432
Gene: ENSMUSG00000071340

Domain	Start	End	E-Value	Type
Pfam:TRAPP	19	167	2.5e-36	PFAM
low complexity region	169	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220095

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,265,193	V177A	probably benign	Het
Ap3b2	T	A	7: 81,476,939		probably benign	Het
Arfgef3	T	C	10: 18,603,419	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090	N43S	probably damaging	Het
Cdh23	C	T	10: 60,331,833	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319	S312P	probably damaging	Het
Gm11639	A	T	11: 104,736,063	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129		probably benign	Het
Krt9	A	T	11: 100,191,437		probably null	Het
Myh6	T	C	14: 54,957,413	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604	D473G	probably benign	Het
Olfr576	T	C	7: 102,965,583	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293		probably benign	Het
Strc	A	G	2: 121,375,298	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342	D195G	probably benign	Het

Other mutations in Fam26e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01966:Fam26e	APN	10	34096133	missense	probably benign	0.00
IGL02090:Fam26e	APN	10	34096265	missense	probably damaging	1.00
R0781:Fam26e	UTSW	10	34096017	missense	probably benign	0.00
R1110:Fam26e	UTSW	10	34096017	missense	probably benign	0.00
R5214:Fam26e	UTSW	10	34092491	missense	probably damaging	0.99
R5705:Fam26e	UTSW	10	34095993	missense	probably damaging	1.00
R5934:Fam26e	UTSW	10	34092202	missense	possibly damaging	0.83
R6489:Fam26e	UTSW	10	34092506	missense	probably damaging	1.00
R6863:Fam26e	UTSW	10	34092455	missense	probably benign	0.01
R6873:Fam26e	UTSW	10	34092452	missense	probably damaging	1.00
R6995:Fam26e	UTSW	10	34096193	missense	probably benign
R7169:Fam26e	UTSW	10	34092164	missense	probably damaging	1.00
R8263:Fam26e	UTSW	10	34096196	missense	probably damaging	0.98
R8327:Fam26e	UTSW	10	34096068	missense	probably damaging	1.00
R8915:Fam26e	UTSW	10	34092419	missense	probably benign	0.20
R9105:Fam26e	UTSW	10	34092148	missense	probably benign	0.00
R9438:Fam26e	UTSW	10	34096053	missense	probably benign	0.00
Z1177:Fam26e	UTSW	10	34096329	missense	probably damaging	1.00

Posted On

2014-01-21