Mutagenetix > Incidental Mutation

Incidental Mutation 'R5737:Tmem178b'

444576

Institutional Source

Beutler Lab

Gene Symbol

Tmem178b

Ensembl Gene

ENSMUSG00000057716

Gene Name

transmembrane protein 178B

Synonyms

A930009E05Rik, Gm5567

MMRRC Submission

043195-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R5737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39848395-40232084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40222575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 97 (M97L)

Ref Sequence

ENSEMBL: ENSMUSP00000055268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061740] [ENSMUST00000180886]

AlphaFold

A0A5F8MQ13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061740
AA Change: M97L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055268
Gene: ENSMUSG00000057716
AA Change: M97L

Domain	Start	End	E-Value	Type
Pfam:Claudin_2	2	114	3.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180588

Predicted Effect

probably benign
Transcript: ENSMUST00000180886

SMART Domains

Protein: ENSMUSP00000137869
Gene: ENSMUSG00000057716

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,707,055 (GRCm39)	V78A	probably damaging	Het
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Aldh1l2	T	A	10: 83,356,189 (GRCm39)	D67V	probably damaging	Het
Ankfy1	T	A	11: 72,623,100 (GRCm39)	D253E	probably damaging	Het
Arhgap42	T	C	9: 9,059,069 (GRCm39)	K159R	probably damaging	Het
Atrnl1	C	T	19: 57,766,320 (GRCm39)	A1219V	possibly damaging	Het
Cacna1c	C	T	6: 118,718,893 (GRCm39)	V386I	probably damaging	Het
Cacna2d2	A	G	9: 107,403,946 (GRCm39)	T1015A	possibly damaging	Het
Cadps2	T	C	6: 23,328,804 (GRCm39)	M999V	probably benign	Het
Ccer1	A	T	10: 97,530,546 (GRCm39)	H403L	possibly damaging	Het
Cubn	A	T	2: 13,393,702 (GRCm39)	I1433N	probably damaging	Het
Dcbld2	T	C	16: 58,281,348 (GRCm39)	V531A	probably damaging	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Dnah3	T	C	7: 119,658,421 (GRCm39)	K920R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dscaml1	C	T	9: 45,656,483 (GRCm39)	R1608C	probably damaging	Het
Gtf3c2	A	G	5: 31,325,593 (GRCm39)		probably null	Het
Heca	A	T	10: 17,791,462 (GRCm39)	M198K	possibly damaging	Het
Igkv8-24	A	T	6: 70,194,122 (GRCm39)	S29T	probably benign	Het
Lipo2	A	C	19: 33,699,096 (GRCm39)	N311K	probably damaging	Het
Lmo7	T	G	14: 102,124,672 (GRCm39)	I266S	probably damaging	Het
Naip2	T	A	13: 100,298,362 (GRCm39)	E558V	probably benign	Het
Nelfa	T	A	5: 34,056,457 (GRCm39)		probably null	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Psmg2	T	C	18: 67,779,107 (GRCm39)	S92P	possibly damaging	Het
Rasa2	C	T	9: 96,452,718 (GRCm39)		probably null	Het
Slc6a3	A	C	13: 73,692,923 (GRCm39)	N181T	probably damaging	Het
Tdrd5	A	G	1: 156,128,294 (GRCm39)	M136T	probably benign	Het
Tnfaip8l1	A	G	17: 56,478,950 (GRCm39)	D80G	probably benign	Het
Tomt	T	C	7: 101,549,524 (GRCm39)	T255A	probably benign	Het
Uqcc5	A	G	14: 30,850,676 (GRCm39)	I22T	probably benign	Het
Vmn2r26	G	T	6: 124,016,408 (GRCm39)	V291F	probably benign	Het

Other mutations in Tmem178b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02398:Tmem178b	APN	6	40,184,461 (GRCm39)	missense	probably damaging	1.00
IGL03004:Tmem178b	APN	6	40,222,515 (GRCm39)	missense	probably damaging	1.00
R2147:Tmem178b	UTSW	6	40,184,435 (GRCm39)	missense	probably damaging	1.00
R2148:Tmem178b	UTSW	6	40,184,435 (GRCm39)	missense	probably damaging	1.00
R2150:Tmem178b	UTSW	6	40,184,435 (GRCm39)	missense	probably damaging	1.00
R4690:Tmem178b	UTSW	6	40,222,547 (GRCm39)	missense	probably benign	0.01
R4803:Tmem178b	UTSW	6	39,981,160 (GRCm39)	missense	probably damaging	0.99
R6800:Tmem178b	UTSW	6	40,231,858 (GRCm39)	missense	unknown
R7794:Tmem178b	UTSW	6	40,222,551 (GRCm39)	missense	probably damaging	1.00
R8355:Tmem178b	UTSW	6	40,231,869 (GRCm39)	missense	unknown
R8455:Tmem178b	UTSW	6	40,231,869 (GRCm39)	missense	unknown
R9332:Tmem178b	UTSW	6	39,981,181 (GRCm39)	nonsense	probably null
R9654:Tmem178b	UTSW	6	40,222,534 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGATGAGGGCCCACTCTTC -3'
(R):5'- CACTGGCATCATCTTGATTGAG -3'

Sequencing Primer
(F):5'- CCTTATTCATCCCACTTAAGAAGTTG -3'
(R):5'- AGCACACTGTCCCATTCT -3'

Posted On

2016-11-21