Mutagenetix > Incidental Mutation

Incidental Mutation 'R3742:Tmem88b'

270408

Institutional Source

Beutler Lab

Gene Symbol

Tmem88b

Ensembl Gene

ENSMUSG00000073680

Gene Name

transmembrane protein 88B

Synonyms

A230069A22Rik

MMRRC Submission

040728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155866048-155870331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155869884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 59 (L59P)

Ref Sequence

ENSEMBL: ENSMUSP00000095349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097742]

AlphaFold

Q3TYP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000097742
AA Change: L59P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095349
Gene: ENSMUSG00000073680
AA Change: L59P

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	105	127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185136

Meta Mutation Damage Score

0.2665

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	C	G	3: 89,853,338 (GRCm39)	A726P	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bclaf3	T	A	X: 158,334,828 (GRCm39)	H41Q	probably benign	Het
Bsn	C	A	9: 107,982,938 (GRCm39)	R3605M	unknown	Het
Ctso	G	A	3: 81,859,556 (GRCm39)	V288I	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,095,076 (GRCm39)	M718T	probably benign	Het
Dsg4	A	T	18: 20,604,058 (GRCm39)	T842S	probably damaging	Het
Epb41l5	T	C	1: 119,532,973 (GRCm39)	Q388R	probably benign	Het
Fbxo6	A	G	4: 148,234,090 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,930,104 (GRCm39)	Y281D	probably damaging	Het
Gm6489	T	A	1: 31,326,764 (GRCm39)		noncoding transcript	Het
Gtpbp2	A	G	17: 46,476,808 (GRCm39)	T329A	probably benign	Het
Hemgn	T	C	4: 46,396,421 (GRCm39)	T272A	possibly damaging	Het
Hinfp	A	G	9: 44,213,812 (GRCm39)	C22R	probably damaging	Het
Hoxc13	G	A	15: 102,829,873 (GRCm39)	G84D	possibly damaging	Het
Ing5	T	A	1: 93,740,398 (GRCm39)	S106R	probably damaging	Het
Mbd6	G	A	10: 127,120,812 (GRCm39)		probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup210l	A	T	3: 90,114,701 (GRCm39)	M1759L	probably benign	Het
Or10ag52	A	G	2: 87,043,340 (GRCm39)	I35V	probably benign	Het
Or5b106	A	G	19: 13,123,258 (GRCm39)	F255S	probably damaging	Het
Or7e168	A	T	9: 19,720,195 (GRCm39)	I194F	probably benign	Het
Or7g25	A	G	9: 19,159,979 (GRCm39)	S239P	possibly damaging	Het
Pde4d	T	G	13: 109,877,013 (GRCm39)	V53G	probably benign	Het
Shisa9	G	A	16: 12,085,528 (GRCm39)	R379Q	probably damaging	Het
Syngr4	T	C	7: 45,545,194 (GRCm39)	E5G	possibly damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Zfp386	T	A	12: 116,023,170 (GRCm39)	L296*	probably null	Het
Zfp605	G	T	5: 110,276,564 (GRCm39)	G561W	probably damaging	Het

Other mutations in Tmem88b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0598:Tmem88b	UTSW	4	155,868,824 (GRCm39)	missense	probably benign
R3740:Tmem88b	UTSW	4	155,869,884 (GRCm39)	missense	probably damaging	0.96
R3741:Tmem88b	UTSW	4	155,869,884 (GRCm39)	missense	probably damaging	0.96
R5511:Tmem88b	UTSW	4	155,870,002 (GRCm39)	missense	probably damaging	0.99
R6374:Tmem88b	UTSW	4	155,870,221 (GRCm39)	unclassified	probably benign
R6551:Tmem88b	UTSW	4	155,870,149 (GRCm39)	unclassified	probably benign
R9288:Tmem88b	UTSW	4	155,868,733 (GRCm39)	missense	probably damaging	0.97
R9481:Tmem88b	UTSW	4	155,868,733 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGGTAGATTCACCTTCAACCC -3'
(R):5'- TGCCTACCACTGTGATCTTGG -3'

Sequencing Primer
(F):5'- GTAGATTCACCTTCAACCCCAAGG -3'
(R):5'- ATCTTGGGGGAACATCCTTCAAGC -3'

Posted On

2015-03-18