Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Tmem178b'

291767

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem178b

Ensembl Gene

ENSMUSG00000057716

Gene Name

transmembrane protein 178B

Synonyms

A930009E05Rik, Gm5567

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

39848395-40232084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40184461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 120 (M120V)

Ref Sequence

ENSEMBL: ENSMUSP00000137869 (fasta)

Gene Model

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

AlphaFold

A0A5F8MQ13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061740
AA Change: M55V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055268
Gene: ENSMUSG00000057716
AA Change: M55V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180886
AA Change: M120V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137869
Gene: ENSMUSG00000057716
AA Change: M120V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181132

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,709,824 (GRCm39)	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gjb3	T	A	4: 127,219,855 (GRCm39)	S226C	probably benign	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pde4dip	T	C	3: 97,674,097 (GRCm39)	Y273C	probably benign	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prlhr	G	T	19: 60,455,753 (GRCm39)	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,840,703 (GRCm39)	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	probably benign	Het

Other mutations in Tmem178b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5737:Tmem178b	UTSW	6	40,222,575 (GRCm39)	missense	possibly damaging	0.89
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

Posted On

2015-04-16