Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Tmem191'

410904

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem191

Ensembl Gene

ENSMUSG00000055692

Gene Name

transmembrane protein 191

Synonyms

MNCb-4137, 4933405M22Rik, Tmem191c, D16Bwg1494e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL03146

Quality Score

Status

Chromosome

Chromosomal Location

17094164-17096525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17095246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 169 (E169G)

Ref Sequence

ENSEMBL: ENSMUSP00000131127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000069420] [ENSMUST00000159065] [ENSMUST00000159242] [ENSMUST00000164950] [ENSMUST00000159811] [ENSMUST00000159494] [ENSMUST00000161775] [ENSMUST00000162085] [ENSMUST00000232364] [ENSMUST00000232232]

AlphaFold

Q9JJB1

Predicted Effect

probably benign
Transcript: ENSMUST00000036161

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720

Domain	Start	End	E-Value	Type
low complexity region	198	221	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC
SCOP:d1gw5a_	268	675	2e-3	SMART
low complexity region	895	907	N/A	INTRINSIC
PI3Ka	1483	1671	2.11e-54	SMART
Blast:PI3Kc	1688	1762	2e-39	BLAST
PI3Kc	1788	2041	4.04e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069420

SMART Domains

Protein: ENSMUSP00000068902
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	121	3.1e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148110

Predicted Effect

probably benign
Transcript: ENSMUST00000159065

SMART Domains

Protein: ENSMUSP00000123791
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	121	3.1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159242

SMART Domains

Protein: ENSMUSP00000124757
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	121	3.1e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164950
AA Change: E169G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131127
Gene: ENSMUSG00000055692
AA Change: E169G

Domain	Start	End	E-Value	Type
coiled coil region	5	112	N/A	INTRINSIC
Pfam:TMEM191C	182	302	1.5e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160007

Predicted Effect

probably benign
Transcript: ENSMUST00000159811

SMART Domains

Protein: ENSMUSP00000123710
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	121	3.1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159494

Predicted Effect

probably benign
Transcript: ENSMUST00000161775

SMART Domains

Protein: ENSMUSP00000123917
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	121	3.1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162085

SMART Domains

Protein: ENSMUSP00000124217
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	59	1.2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231334

Predicted Effect

unknown
Transcript: ENSMUST00000232167
AA Change: E56G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232220

Predicted Effect

probably benign
Transcript: ENSMUST00000232364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231646

Predicted Effect

probably benign
Transcript: ENSMUST00000232232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232636

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,294,519 (GRCm39)	D360G	probably damaging	Het
Adam6a	A	T	12: 113,509,144 (GRCm39)	T506S	probably damaging	Het
Adamts15	A	G	9: 30,832,863 (GRCm39)	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,885,866 (GRCm39)	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ccdc85c	G	A	12: 108,173,395 (GRCm39)	R387*	probably null	Het
Cfap57	T	A	4: 118,456,216 (GRCm39)	I493F	probably damaging	Het
Chst9	A	G	18: 15,586,035 (GRCm39)	I176T	probably damaging	Het
Clpx	G	T	9: 65,234,112 (GRCm39)	V572L	probably benign	Het
Csmd3	T	A	15: 47,744,873 (GRCm39)	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,350,134 (GRCm39)	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,770,061 (GRCm39)	E414G	probably benign	Het
Ehd1	T	C	19: 6,327,368 (GRCm39)	F122L	probably damaging	Het
Fcho1	A	G	8: 72,170,074 (GRCm39)		probably benign	Het
Fermt3	T	C	19: 6,980,631 (GRCm39)	E312G	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,214,399 (GRCm39)	R132C	probably damaging	Het
Inpp4b	A	T	8: 82,470,410 (GRCm39)	I35F	possibly damaging	Het
Izumo3	T	G	4: 92,033,276 (GRCm39)	I107L	probably damaging	Het
Lama3	C	A	18: 12,660,681 (GRCm39)	Q484K	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,828,955 (GRCm39)		probably benign	Het
Mast4	T	C	13: 102,874,163 (GRCm39)	N1735S	probably benign	Het
Or14a257	T	C	7: 86,138,402 (GRCm39)	D119G	probably damaging	Het
Or4c100	T	A	2: 88,356,488 (GRCm39)	M187K	possibly damaging	Het
Oxct1	T	C	15: 4,130,630 (GRCm39)	L374P	probably damaging	Het
Parp14	G	A	16: 35,678,823 (GRCm39)	Q382*	probably null	Het
Pax2	A	G	19: 44,821,714 (GRCm39)		probably benign	Het
Prkaa1	T	C	15: 5,198,122 (GRCm39)	V146A	probably damaging	Het
Ptprb	C	T	10: 116,164,032 (GRCm39)	A900V	probably benign	Het
Rgs6	A	T	12: 83,099,312 (GRCm39)	D130V	probably damaging	Het
Ryr1	C	A	7: 28,793,457 (GRCm39)	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,033,969 (GRCm39)	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,311,585 (GRCm39)	E633D	probably benign	Het
Slc1a7	T	A	4: 107,850,189 (GRCm39)	I100N	probably damaging	Het
Slc25a35	A	G	11: 68,859,678 (GRCm39)	K64E	possibly damaging	Het
Spmip4	A	T	6: 50,550,853 (GRCm39)	V532E	probably damaging	Het
Stil	C	A	4: 114,881,612 (GRCm39)	Q719K	probably damaging	Het
Stim1	T	A	7: 102,070,562 (GRCm39)	L265Q	probably damaging	Het
Tmem255b	T	C	8: 13,504,174 (GRCm39)	L101P	probably damaging	Het
Trgv3	C	A	13: 19,427,337 (GRCm39)	Y73*	probably null	Het
Zfyve26	G	A	12: 79,330,846 (GRCm39)	Q458*	probably null	Het

Other mutations in Tmem191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:Tmem191	APN	16	17,095,594 (GRCm39)	missense	possibly damaging	0.95
R1037:Tmem191	UTSW	16	17,094,347 (GRCm39)	unclassified	probably benign
R1473:Tmem191	UTSW	16	17,095,826 (GRCm39)	splice site	probably null
R1551:Tmem191	UTSW	16	17,095,984 (GRCm39)	missense	probably damaging	0.97
R5070:Tmem191	UTSW	16	17,095,559 (GRCm39)	missense	probably null	0.99
R5161:Tmem191	UTSW	16	17,094,743 (GRCm39)	missense	possibly damaging	0.93
R5987:Tmem191	UTSW	16	17,094,334 (GRCm39)	critical splice donor site	probably null
R6696:Tmem191	UTSW	16	17,100,886 (GRCm39)	splice site	probably null
R9185:Tmem191	UTSW	16	17,094,302 (GRCm39)	missense	probably damaging	0.98
R9358:Tmem191	UTSW	16	17,094,257 (GRCm39)	missense	probably damaging	0.96
R9424:Tmem191	UTSW	16	17,094,526 (GRCm39)	nonsense	probably null
R9576:Tmem191	UTSW	16	17,094,526 (GRCm39)	nonsense	probably null

Posted On

2016-08-02