Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02563:Tmem196'

298743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem196

Ensembl Gene

ENSMUSG00000048004

Gene Name

transmembrane protein 196

Synonyms

LOC217951

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02563

Quality Score

Status

Chromosome

Chromosomal Location

119909557-119984981 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 119910209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000138921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058644] [ENSMUST00000183694] [ENSMUST00000184069] [ENSMUST00000184209] [ENSMUST00000184820]

AlphaFold

V9GX04

Predicted Effect

probably null
Transcript: ENSMUST00000058644
AA Change: M1V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054994
Gene: ENSMUSG00000048004
AA Change: M1V

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	44	61	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	138	149	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183694
AA Change: M1V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138921
Gene: ENSMUSG00000048004
AA Change: M1V

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	49	66	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
low complexity region	144	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184069

SMART Domains

Protein: ENSMUSP00000139022
Gene: ENSMUSG00000048004

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
low complexity region	112	123	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000184209
AA Change: M1V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139033
Gene: ENSMUSG00000048004
AA Change: M1V

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184820

SMART Domains

Protein: ENSMUSP00000138937
Gene: ENSMUSG00000048004

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
low complexity region	110	121	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223374

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,410 (GRCm39)	V97E	probably damaging	Het
Abhd16a	C	T	17: 35,320,221 (GRCm39)	T362M	probably damaging	Het
Adam23	T	G	1: 63,607,136 (GRCm39)		probably benign	Het
Apeh	C	A	9: 107,970,908 (GRCm39)	R87L	possibly damaging	Het
Arid3a	T	A	10: 79,786,717 (GRCm39)	M490K	probably damaging	Het
Atp6v1b1	T	A	6: 83,732,433 (GRCm39)	V251D	probably benign	Het
Cog8	C	T	8: 107,783,055 (GRCm39)	R78Q	possibly damaging	Het
Cyld	T	C	8: 89,462,522 (GRCm39)	I701T	probably damaging	Het
Dmgdh	A	G	13: 93,811,047 (GRCm39)		probably benign	Het
Dnm1	T	C	2: 32,205,931 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,574,293 (GRCm39)	V2D	probably damaging	Het
Dusp22	A	T	13: 30,889,628 (GRCm39)	S70C	possibly damaging	Het
Dync2h1	T	C	9: 7,035,700 (GRCm39)	Q3415R	possibly damaging	Het
Dysf	T	C	6: 84,163,498 (GRCm39)		probably benign	Het
Fam114a1	G	A	5: 65,163,491 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,568,620 (GRCm39)	Q302L	possibly damaging	Het
Fancm	T	A	12: 65,139,236 (GRCm39)	L374H	probably damaging	Het
Fcgbpl1	G	A	7: 27,857,317 (GRCm39)	E2222K	probably benign	Het
Fgf17	G	A	14: 70,874,178 (GRCm39)	Q204*	probably null	Het
Gap43	T	C	16: 42,112,495 (GRCm39)	T89A	probably benign	Het
Gm5069	A	G	1: 180,155,464 (GRCm39)		probably benign	Het
Gm9913	C	T	2: 125,348,254 (GRCm39)		probably benign	Het
Gpr174	T	C	X: 106,336,854 (GRCm39)	L222P	probably benign	Het
Grid2	A	T	6: 64,322,857 (GRCm39)	Q619L	possibly damaging	Het
Hoxc13	A	G	15: 102,830,233 (GRCm39)	D204G	possibly damaging	Het
Itgav	T	C	2: 83,601,580 (GRCm39)	V317A	probably benign	Het
Keg1	A	T	19: 12,696,521 (GRCm39)	N288I	probably damaging	Het
Ksr1	C	T	11: 78,935,684 (GRCm39)	V234I	possibly damaging	Het
Lrp1	T	A	10: 127,387,555 (GRCm39)	D3365V	probably damaging	Het
Luc7l3	A	T	11: 94,190,894 (GRCm39)		probably null	Het
Mta2	T	C	19: 8,925,415 (GRCm39)	I348T	probably benign	Het
Nphp4	A	G	4: 152,640,677 (GRCm39)	I1015V	probably benign	Het
Nup214	C	T	2: 31,867,872 (GRCm39)	S113F	probably damaging	Het
Or4f7	T	C	2: 111,644,162 (GRCm39)	K303R	probably benign	Het
Pabpn1l	T	A	8: 123,347,122 (GRCm39)	T228S	probably damaging	Het
Paxx	T	C	2: 25,349,674 (GRCm39)	*206W	probably null	Het
Pcdhb10	A	G	18: 37,546,126 (GRCm39)	T401A	probably benign	Het
Ppp1r3a	A	C	6: 14,719,761 (GRCm39)	D384E	probably benign	Het
Rif1	T	C	2: 51,967,077 (GRCm39)	V122A	probably damaging	Het
Scn4b	T	C	9: 45,057,980 (GRCm39)	L24P	probably damaging	Het
Sec22c	T	C	9: 121,513,716 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,289,207 (GRCm39)	D676G	probably damaging	Het
Slc20a1	A	G	2: 129,049,604 (GRCm39)	T289A	probably benign	Het
Tekt2	T	C	4: 126,218,418 (GRCm39)	D84G	possibly damaging	Het
Tgfbr2	T	A	9: 115,959,066 (GRCm39)	N116I	probably benign	Het
Tnn	A	G	1: 159,942,123 (GRCm39)	V1125A	probably damaging	Het
Vmn2r51	A	T	7: 9,834,243 (GRCm39)	M265K	probably benign	Het
Zfp319	T	C	8: 96,050,362 (GRCm39)		probably benign	Het
Zfp65	A	T	13: 67,856,184 (GRCm39)	V365E	possibly damaging	Het
Zp3	T	A	5: 136,016,464 (GRCm39)		probably null	Het

Other mutations in Tmem196

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7395:Tmem196	UTSW	12	119,975,002 (GRCm39)	missense	probably damaging	1.00
R8169:Tmem196	UTSW	12	119,982,311 (GRCm39)	missense	possibly damaging	0.66
R8870:Tmem196	UTSW	12	119,982,268 (GRCm39)	missense	possibly damaging	0.66
R9006:Tmem196	UTSW	12	119,978,510 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmem196	UTSW	12	119,979,940 (GRCm39)	missense	possibly damaging	0.66

Posted On

2015-04-16