Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01107:Tmem131'

50280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem131

Ensembl Gene

ENSMUSG00000026116

Gene Name

transmembrane protein 131

Synonyms

2610524E03Rik, D1Bwg0491e, CC28, Neg, Rw1, YR-23

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

IGL01107

Quality Score

Status

Chromosome

Chromosomal Location

36792191-36943666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36829581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 388 (S388G)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000186486] [ENSMUST00000194563]

AlphaFold

O70472

Predicted Effect

probably damaging
Transcript: ENSMUST00000027290
AA Change: S388G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: S388G

Domain	Start	End	E-Value	Type
low complexity region	5	44	N/A	INTRINSIC
low complexity region	77	89	N/A	INTRINSIC
Pfam:TMEM131_like	106	189	1.7e-32	PFAM
transmembrane domain	1081	1103	N/A	INTRINSIC
transmembrane domain	1116	1138	N/A	INTRINSIC
low complexity region	1232	1258	N/A	INTRINSIC
low complexity region	1283	1315	N/A	INTRINSIC
low complexity region	1369	1382	N/A	INTRINSIC
low complexity region	1384	1433	N/A	INTRINSIC
low complexity region	1460	1471	N/A	INTRINSIC
low complexity region	1595	1610	N/A	INTRINSIC
low complexity region	1613	1626	N/A	INTRINSIC
low complexity region	1628	1646	N/A	INTRINSIC
low complexity region	1675	1684	N/A	INTRINSIC
low complexity region	1693	1701	N/A	INTRINSIC
low complexity region	1738	1748	N/A	INTRINSIC
low complexity region	1760	1779	N/A	INTRINSIC
low complexity region	1799	1810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186486

SMART Domains

Protein: ENSMUSP00000142080
Gene: ENSMUSG00000026116

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194563
AA Change: S388G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: S388G

Domain	Start	End	E-Value	Type
low complexity region	5	44	N/A	INTRINSIC
low complexity region	77	89	N/A	INTRINSIC
Pfam:DUF3651	170	243	1.9e-27	PFAM
Pfam:DUF3651	500	580	4.5e-16	PFAM
Pfam:DUF3651	631	706	5.2e-15	PFAM
transmembrane domain	1081	1103	N/A	INTRINSIC
transmembrane domain	1116	1138	N/A	INTRINSIC
low complexity region	1232	1258	N/A	INTRINSIC
low complexity region	1283	1315	N/A	INTRINSIC
low complexity region	1369	1382	N/A	INTRINSIC
low complexity region	1384	1433	N/A	INTRINSIC
low complexity region	1460	1471	N/A	INTRINSIC
low complexity region	1595	1610	N/A	INTRINSIC
low complexity region	1613	1626	N/A	INTRINSIC
low complexity region	1628	1646	N/A	INTRINSIC
low complexity region	1675	1684	N/A	INTRINSIC
low complexity region	1693	1701	N/A	INTRINSIC
low complexity region	1738	1748	N/A	INTRINSIC
low complexity region	1760	1779	N/A	INTRINSIC
low complexity region	1799	1810	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,797,936	F215Y	probably damaging	Het
2700049A03Rik	T	C	12: 71,194,468		probably null	Het
Akip1	C	T	7: 109,711,838	T195M	probably damaging	Het
Arhgef16	T	C	4: 154,280,244	N631S	probably benign	Het
Brat1	C	T	5: 140,717,177	S544L	probably damaging	Het
Cfap65	C	T	1: 74,919,183		probably null	Het
D17Wsu92e	A	T	17: 27,786,069		probably null	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnajc4	C	T	19: 6,989,501	R153H	probably benign	Het
Dusp11	A	G	6: 85,952,370		probably benign	Het
E2f4	T	A	8: 105,304,177		probably benign	Het
Ece1	T	A	4: 137,938,658	L271Q	probably damaging	Het
Fcgrt	T	C	7: 45,093,328	D343G	probably damaging	Het
Igsf10	T	C	3: 59,331,524	E412G	probably damaging	Het
Il4ra	G	T	7: 125,575,914	L431F	possibly damaging	Het
Krt86	T	A	15: 101,475,425	L200Q	probably damaging	Het
Lpcat1	T	A	13: 73,494,828	F126I	probably damaging	Het
Prag1	A	G	8: 36,099,931	T79A	probably benign	Het
Pramef12	A	T	4: 144,393,094	I301N	probably benign	Het
Psg29	G	T	7: 17,204,925	L41F	probably benign	Het
Rai14	C	T	15: 10,599,711		probably benign	Het
Reg3a	A	G	6: 78,383,245	D136G	probably benign	Het
Rif1	A	G	2: 52,111,303	T1590A	probably benign	Het
Rorb	A	T	19: 18,957,328	L300*	probably null	Het
Sin3b	T	C	8: 72,731,105	C150R	possibly damaging	Het
Smarcc1	C	A	9: 110,221,937	H942N	probably damaging	Het
Tas2r105	A	G	6: 131,687,111	V118A	probably benign	Het
Ttll9	C	A	2: 153,002,889		probably benign	Het
Ush1c	A	G	7: 46,209,901	L498P	probably damaging	Het
Vmn2r100	A	G	17: 19,521,356	Y110C	probably damaging	Het
Zbtb11	T	C	16: 56,006,007	Y800H	probably damaging	Het
Zdhhc20	T	A	14: 57,865,589	E101V	probably damaging	Het

Other mutations in Tmem131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tmem131	APN	1	36811427	missense	probably damaging	1.00
IGL00945:Tmem131	APN	1	36827005	splice site	probably benign
IGL01401:Tmem131	APN	1	36799387	missense	probably damaging	1.00
IGL01533:Tmem131	APN	1	36818722	missense	probably damaging	1.00
IGL01701:Tmem131	APN	1	36808237	missense	probably benign	0.02
IGL01784:Tmem131	APN	1	36815483	missense	probably damaging	1.00
IGL01890:Tmem131	APN	1	36823156	splice site	probably benign
IGL01969:Tmem131	APN	1	36825460	missense	possibly damaging	0.85
IGL02327:Tmem131	APN	1	36799022	missense	probably damaging	1.00
IGL02707:Tmem131	APN	1	36825479	missense	probably benign	0.03
IGL02743:Tmem131	APN	1	36793151	missense	probably benign	0.00
IGL03111:Tmem131	APN	1	36828144	missense	probably damaging	1.00
R0063:Tmem131	UTSW	1	36819128	missense	probably benign	0.09
R0063:Tmem131	UTSW	1	36819128	missense	probably benign	0.09
R0238:Tmem131	UTSW	1	36828050	splice site	probably benign
R0239:Tmem131	UTSW	1	36828050	splice site	probably benign
R0499:Tmem131	UTSW	1	36841673	missense	probably damaging	1.00
R0548:Tmem131	UTSW	1	36838038	missense	probably damaging	1.00
R0845:Tmem131	UTSW	1	36816222	missense	probably damaging	1.00
R0975:Tmem131	UTSW	1	36854885	missense	probably damaging	1.00
R1018:Tmem131	UTSW	1	36794819	missense	probably damaging	0.98
R1170:Tmem131	UTSW	1	36834898	nonsense	probably null
R1443:Tmem131	UTSW	1	36825478	missense	probably damaging	0.98
R1448:Tmem131	UTSW	1	36827358	missense	probably benign	0.16
R1472:Tmem131	UTSW	1	36816241	missense	possibly damaging	0.68
R1530:Tmem131	UTSW	1	36827009	critical splice donor site	probably null
R1672:Tmem131	UTSW	1	36824759	missense	probably damaging	1.00
R1872:Tmem131	UTSW	1	36807927	missense	probably benign	0.05
R1914:Tmem131	UTSW	1	36796266	missense	probably damaging	1.00
R1915:Tmem131	UTSW	1	36796266	missense	probably damaging	1.00
R1929:Tmem131	UTSW	1	36812271	missense	possibly damaging	0.50
R1971:Tmem131	UTSW	1	36804599	nonsense	probably null
R2146:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2148:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2149:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2150:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2386:Tmem131	UTSW	1	36829635	missense	probably benign	0.00
R2879:Tmem131	UTSW	1	36841707	missense	possibly damaging	0.76
R2903:Tmem131	UTSW	1	36825297	missense	probably damaging	1.00
R3430:Tmem131	UTSW	1	36808821	splice site	probably benign
R3821:Tmem131	UTSW	1	36808396	missense	probably damaging	0.99
R3961:Tmem131	UTSW	1	36818950	missense	probably damaging	1.00
R4153:Tmem131	UTSW	1	36808793	intron	probably benign
R4154:Tmem131	UTSW	1	36808793	intron	probably benign
R4502:Tmem131	UTSW	1	36825479	missense	probably benign	0.03
R4503:Tmem131	UTSW	1	36825479	missense	probably benign	0.03
R4795:Tmem131	UTSW	1	36841676	missense	probably damaging	1.00
R5030:Tmem131	UTSW	1	36827174	missense	possibly damaging	0.78
R5068:Tmem131	UTSW	1	36854905	missense	probably damaging	1.00
R5070:Tmem131	UTSW	1	36854905	missense	probably damaging	1.00
R5386:Tmem131	UTSW	1	36872558	missense	possibly damaging	0.47
R5507:Tmem131	UTSW	1	36889280	missense	probably damaging	1.00
R5569:Tmem131	UTSW	1	36799338	missense	probably benign	0.02
R5913:Tmem131	UTSW	1	36819128	missense	probably benign	0.01
R6044:Tmem131	UTSW	1	36881341	nonsense	probably null
R6125:Tmem131	UTSW	1	36808306	missense	possibly damaging	0.95
R6259:Tmem131	UTSW	1	36819128	missense	probably benign	0.09
R6392:Tmem131	UTSW	1	36881342	missense	probably benign	0.10
R6704:Tmem131	UTSW	1	36796180	missense	possibly damaging	0.77
R6828:Tmem131	UTSW	1	36804643	missense	possibly damaging	0.46
R6964:Tmem131	UTSW	1	36796292	missense	probably damaging	0.99
R7034:Tmem131	UTSW	1	36792973	missense	possibly damaging	0.80
R7036:Tmem131	UTSW	1	36792973	missense	possibly damaging	0.80
R7081:Tmem131	UTSW	1	36889295	missense	possibly damaging	0.94
R7278:Tmem131	UTSW	1	36796301	missense	probably damaging	0.99
R7282:Tmem131	UTSW	1	36841604	missense	probably damaging	1.00
R7294:Tmem131	UTSW	1	36854847	missense	possibly damaging	0.88
R7635:Tmem131	UTSW	1	36872548	missense	probably damaging	1.00
R7916:Tmem131	UTSW	1	36823086	missense	probably benign	0.00
R7948:Tmem131	UTSW	1	36794148	missense	probably damaging	1.00
R8012:Tmem131	UTSW	1	36807964	missense	probably damaging	1.00
R8244:Tmem131	UTSW	1	36808893	missense	probably benign	0.08
R8461:Tmem131	UTSW	1	36794821	missense	probably damaging	1.00
R8770:Tmem131	UTSW	1	36799105	splice site	probably benign
R8902:Tmem131	UTSW	1	36808965	missense	probably damaging	1.00
R8915:Tmem131	UTSW	1	36829577	missense	probably damaging	1.00
R8984:Tmem131	UTSW	1	36828147	missense	probably benign	0.05
R8994:Tmem131	UTSW	1	36815457	missense	probably benign	0.29
R9105:Tmem131	UTSW	1	36815510	missense	probably benign	0.44
R9156:Tmem131	UTSW	1	36841686	missense	possibly damaging	0.88
R9328:Tmem131	UTSW	1	36819155	nonsense	probably null
Z1176:Tmem131	UTSW	1	36796257	missense	probably damaging	1.00

Posted On

2013-06-21