Mutagenetix > Incidental Mutation

Incidental Mutation 'R6696:Tmem191'

543517

Institutional Source

Beutler Lab

Gene Symbol

Tmem191

Ensembl Gene

ENSMUSG00000055692

Gene Name

transmembrane protein 191

Synonyms

MNCb-4137, 4933405M22Rik, Tmem191c, D16Bwg1494e

MMRRC Submission

044814-MU

Accession Numbers

Essential gene?

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

Stock #

R6696 (G1)

Quality Score

104.008

Status

Validated

Chromosome

Chromosomal Location

17094164-17096525 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 17100886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000154364] [ENSMUST00000162085]

AlphaFold

Q9JJB1

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000154364

SMART Domains

Protein: ENSMUSP00000122550
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 null
Transcript: ENSMUST00000155928

SMART Domains

Protein: ENSMUSP00000123156
Gene: ENSMUSG00000041720

Domain	Start	End	E-Value	Type
PI3Kc	57	207	1.3e-1	SMART

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	G	T	6: 87,442,633 (GRCm39)	H350Q	probably damaging	Het
Arhgap25	C	A	6: 87,443,545 (GRCm39)	V305F	probably damaging	Het
Atg3	A	T	16: 44,995,644 (GRCm39)	I126F	possibly damaging	Het
Best2	A	T	8: 85,737,873 (GRCm39)	L174*	probably null	Het
Ccdc134	T	A	15: 82,015,722 (GRCm39)	D67E	probably damaging	Het
Coasy	G	T	11: 100,973,927 (GRCm39)	R31L	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dhrs7l	C	T	12: 72,666,255 (GRCm39)	A139T	possibly damaging	Het
Eipr1	C	A	12: 28,909,357 (GRCm39)	T208N	probably benign	Het
Epha2	A	G	4: 141,048,850 (GRCm39)	T606A	probably benign	Het
Fan1	A	T	7: 63,999,826 (GRCm39)	I853N	probably damaging	Het
Fbxw18	A	C	9: 109,517,832 (GRCm39)	S385A	probably benign	Het
Galnt11	T	C	5: 25,460,112 (GRCm39)	V307A	probably benign	Het
Gata3	A	T	2: 9,879,303 (GRCm39)	Y224*	probably null	Het
Gm527	T	C	12: 64,967,866 (GRCm39)	M96T	possibly damaging	Het
Hivep2	T	C	10: 14,009,503 (GRCm39)	F1720S	probably benign	Het
Hltf	T	G	3: 20,119,470 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,327 (GRCm39)	V247A	probably benign	Het
Iqca1	G	A	1: 90,057,922 (GRCm39)	T259I	probably benign	Het
Klra6	A	G	6: 129,993,696 (GRCm39)	F192L	probably benign	Het
Lnp1	T	C	16: 56,748,149 (GRCm39)	K48E	possibly damaging	Het
Lrp4	A	G	2: 91,327,690 (GRCm39)	D1513G	probably benign	Het
Lrrc25	G	A	8: 71,071,015 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,403,596 (GRCm39)	Y590F	probably damaging	Het
Mms19	C	A	19: 41,942,452 (GRCm39)	V359L	probably benign	Het
Mns1	G	A	9: 72,360,044 (GRCm39)	R398Q	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme3	G	T	17: 25,116,268 (GRCm39)	C158F	possibly damaging	Het
Pam	T	A	1: 97,813,452 (GRCm39)	H326L	possibly damaging	Het
Plcxd1	A	G	5: 110,249,751 (GRCm39)	N151S	possibly damaging	Het
Prep	A	T	10: 45,029,174 (GRCm39)	N525Y	probably damaging	Het
Rab11fip5	T	C	6: 85,318,928 (GRCm39)	I654V	possibly damaging	Het
Sbf2	T	A	7: 110,159,505 (GRCm39)	Q35L	probably benign	Het
Shcbp1	A	G	8: 4,789,262 (GRCm39)	F519S	probably damaging	Het
Slc18a3	T	C	14: 32,186,270 (GRCm39)	I38V	possibly damaging	Het
Slc5a2	A	T	7: 127,869,215 (GRCm39)	I332F	probably damaging	Het
Slc7a7	C	T	14: 54,615,218 (GRCm39)		probably null	Het
Srbd1	C	T	17: 86,446,619 (GRCm39)	V47I	possibly damaging	Het
Synj1	C	G	16: 90,757,340 (GRCm39)	V877L	probably damaging	Het
Tgfbr3	C	T	5: 107,284,796 (GRCm39)	V618I	probably benign	Het
Tmem67	C	A	4: 12,061,754 (GRCm39)		probably null	Het
Tmem94	C	T	11: 115,682,814 (GRCm39)	A617V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,401 (GRCm39)	I96F	probably damaging	Het
Vmn2r7	A	T	3: 64,614,495 (GRCm39)	F440I	probably benign	Het
Wdr7	A	G	18: 63,872,401 (GRCm39)	Q445R	probably benign	Het
Wnk1	A	G	6: 119,925,243 (GRCm39)	L1407P	probably damaging	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
IGL03146:Tmem191	APN	16	17,095,246 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- CATCATGTTCCAGGAACTCACC -3'
(R):5'- TGATTCAAGTGCTGTGGCGAC -3'

Sequencing Primer
(F):5'- GCAGTAGCCACTACCCGATAAGG -3'
(R):5'- CTTTAGAGGAGACACAGAAGCCTCTC -3'

Posted On

2019-02-13