Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01401:Tmem131'

79650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem131

Ensembl Gene

ENSMUSG00000026116

Gene Name

transmembrane protein 131

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

IGL01401

Quality Score

Status

Chromosome

Chromosomal Location

36831270-36978714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36838468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1486 (Y1486H)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably damaging
Transcript: ENSMUST00000027290
AA Change: Y1486H

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

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: Y1486H

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

noncoding transcript
Transcript: ENSMUST00000191381

Predicted Effect

probably damaging
Transcript: ENSMUST00000194563
AA Change: Y1486H

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

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: Y1486H

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,836,516 (GRCm39)	V758A	possibly damaging	Het
Arf4	T	C	14: 26,359,609 (GRCm39)	L12P	probably damaging	Het
Bltp1	A	G	3: 36,996,441 (GRCm39)	N1051S	probably benign	Het
C4bp	A	T	1: 130,575,801 (GRCm39)	V230E	possibly damaging	Het
Carm1	T	A	9: 21,480,878 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Ceacam16	T	C	7: 19,595,054 (GRCm39)	Y8C	probably benign	Het
Ckap2l	A	T	2: 129,111,136 (GRCm39)	V687E	probably damaging	Het
Dcaf4	A	G	12: 83,588,148 (GRCm39)	D449G	probably damaging	Het
Dhx38	T	C	8: 110,278,746 (GRCm39)	Y1113C	probably benign	Het
Fry	A	G	5: 150,362,253 (GRCm39)	I161V	probably benign	Het
Gm17093	A	C	14: 44,758,984 (GRCm39)	M169L	unknown	Het
Gm20721	A	G	2: 174,187,295 (GRCm39)	D999G	probably damaging	Het
Grin2b	T	C	6: 135,713,361 (GRCm39)	H840R	probably damaging	Het
Hoxc12	C	A	15: 102,845,755 (GRCm39)	H156Q	probably benign	Het
Htr3b	T	C	9: 48,858,934 (GRCm39)	D68G	probably damaging	Het
Inpp5b	T	C	4: 124,639,880 (GRCm39)	V99A	probably damaging	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lmo7	C	T	14: 102,031,713 (GRCm39)	R36*	probably null	Het
Lmod3	T	G	6: 97,229,513 (GRCm39)	N7T	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mthfd2l	T	A	5: 91,148,425 (GRCm39)	I284K	possibly damaging	Het
Myo1e	T	A	9: 70,234,448 (GRCm39)	I267N	probably damaging	Het
Or13c7d	T	C	4: 43,770,112 (GRCm39)	R300G	probably damaging	Het
Or2y1g	T	A	11: 49,171,314 (GRCm39)	V113E	possibly damaging	Het
Prkce	T	C	17: 86,476,268 (GRCm39)	V83A	probably damaging	Het
Pxdn	G	T	12: 30,051,983 (GRCm39)	C540F	probably damaging	Het
Resf1	A	G	6: 149,228,394 (GRCm39)	E480G	probably damaging	Het
Ryr2	T	A	13: 11,606,238 (GRCm39)	E4448V	possibly damaging	Het
Scn1a	A	T	2: 66,119,455 (GRCm39)	N1349K	probably damaging	Het
Smarcc1	T	C	9: 109,979,033 (GRCm39)	I172T	possibly damaging	Het
Syt16	T	C	12: 74,269,437 (GRCm39)	V92A	possibly damaging	Het
Tenm4	A	G	7: 96,523,474 (GRCm39)	Y1672C	probably damaging	Het
Tmem132a	A	G	19: 10,838,888 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,921,920 (GRCm39)	D314E	probably damaging	Het
Vmn2r79	G	A	7: 86,686,481 (GRCm39)	V621I	probably benign	Het
Wnk4	A	G	11: 101,167,509 (GRCm39)		probably benign	Het
Wwc1	C	A	11: 35,789,445 (GRCm39)		probably null	Het

Other mutations in Tmem131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tmem131	APN	1	36,850,508 (GRCm39)	missense	probably damaging	1.00
IGL00945:Tmem131	APN	1	36,866,086 (GRCm39)	splice site	probably benign
IGL01107:Tmem131	APN	1	36,868,662 (GRCm39)	missense	probably damaging	1.00
IGL01533:Tmem131	APN	1	36,857,803 (GRCm39)	missense	probably damaging	1.00
IGL01701:Tmem131	APN	1	36,847,318 (GRCm39)	missense	probably benign	0.02
IGL01784:Tmem131	APN	1	36,854,564 (GRCm39)	missense	probably damaging	1.00
IGL01890:Tmem131	APN	1	36,862,237 (GRCm39)	splice site	probably benign
IGL01969:Tmem131	APN	1	36,864,541 (GRCm39)	missense	possibly damaging	0.85
IGL02327:Tmem131	APN	1	36,838,103 (GRCm39)	missense	probably damaging	1.00
IGL02707:Tmem131	APN	1	36,864,560 (GRCm39)	missense	probably benign	0.03
IGL02743:Tmem131	APN	1	36,832,232 (GRCm39)	missense	probably benign	0.00
IGL03111:Tmem131	APN	1	36,867,225 (GRCm39)	missense	probably damaging	1.00
R0063:Tmem131	UTSW	1	36,858,209 (GRCm39)	missense	probably benign	0.09
R0063:Tmem131	UTSW	1	36,858,209 (GRCm39)	missense	probably benign	0.09
R0238:Tmem131	UTSW	1	36,867,131 (GRCm39)	splice site	probably benign
R0239:Tmem131	UTSW	1	36,867,131 (GRCm39)	splice site	probably benign
R0499:Tmem131	UTSW	1	36,880,754 (GRCm39)	missense	probably damaging	1.00
R0548:Tmem131	UTSW	1	36,877,119 (GRCm39)	missense	probably damaging	1.00
R0845:Tmem131	UTSW	1	36,855,303 (GRCm39)	missense	probably damaging	1.00
R0975:Tmem131	UTSW	1	36,893,966 (GRCm39)	missense	probably damaging	1.00
R1018:Tmem131	UTSW	1	36,833,900 (GRCm39)	missense	probably damaging	0.98
R1170:Tmem131	UTSW	1	36,873,979 (GRCm39)	nonsense	probably null
R1443:Tmem131	UTSW	1	36,864,559 (GRCm39)	missense	probably damaging	0.98
R1448:Tmem131	UTSW	1	36,866,439 (GRCm39)	missense	probably benign	0.16
R1472:Tmem131	UTSW	1	36,855,322 (GRCm39)	missense	possibly damaging	0.68
R1530:Tmem131	UTSW	1	36,866,090 (GRCm39)	critical splice donor site	probably null
R1672:Tmem131	UTSW	1	36,863,840 (GRCm39)	missense	probably damaging	1.00
R1872:Tmem131	UTSW	1	36,847,008 (GRCm39)	missense	probably benign	0.05
R1914:Tmem131	UTSW	1	36,835,347 (GRCm39)	missense	probably damaging	1.00
R1915:Tmem131	UTSW	1	36,835,347 (GRCm39)	missense	probably damaging	1.00
R1929:Tmem131	UTSW	1	36,851,352 (GRCm39)	missense	possibly damaging	0.50
R1971:Tmem131	UTSW	1	36,843,680 (GRCm39)	nonsense	probably null
R2146:Tmem131	UTSW	1	36,851,690 (GRCm39)	missense	probably benign	0.13
R2148:Tmem131	UTSW	1	36,851,690 (GRCm39)	missense	probably benign	0.13
R2149:Tmem131	UTSW	1	36,851,690 (GRCm39)	missense	probably benign	0.13
R2150:Tmem131	UTSW	1	36,851,690 (GRCm39)	missense	probably benign	0.13
R2386:Tmem131	UTSW	1	36,868,716 (GRCm39)	missense	probably benign	0.00
R2879:Tmem131	UTSW	1	36,880,788 (GRCm39)	missense	possibly damaging	0.76
R2903:Tmem131	UTSW	1	36,864,378 (GRCm39)	missense	probably damaging	1.00
R3430:Tmem131	UTSW	1	36,847,902 (GRCm39)	splice site	probably benign
R3821:Tmem131	UTSW	1	36,847,477 (GRCm39)	missense	probably damaging	0.99
R3961:Tmem131	UTSW	1	36,858,031 (GRCm39)	missense	probably damaging	1.00
R4153:Tmem131	UTSW	1	36,847,874 (GRCm39)	intron	probably benign
R4154:Tmem131	UTSW	1	36,847,874 (GRCm39)	intron	probably benign
R4502:Tmem131	UTSW	1	36,864,560 (GRCm39)	missense	probably benign	0.03
R4503:Tmem131	UTSW	1	36,864,560 (GRCm39)	missense	probably benign	0.03
R4795:Tmem131	UTSW	1	36,880,757 (GRCm39)	missense	probably damaging	1.00
R5030:Tmem131	UTSW	1	36,866,255 (GRCm39)	missense	possibly damaging	0.78
R5068:Tmem131	UTSW	1	36,893,986 (GRCm39)	missense	probably damaging	1.00
R5070:Tmem131	UTSW	1	36,893,986 (GRCm39)	missense	probably damaging	1.00
R5386:Tmem131	UTSW	1	36,911,639 (GRCm39)	missense	possibly damaging	0.47
R5507:Tmem131	UTSW	1	36,928,361 (GRCm39)	missense	probably damaging	1.00
R5569:Tmem131	UTSW	1	36,838,419 (GRCm39)	missense	probably benign	0.02
R5913:Tmem131	UTSW	1	36,858,209 (GRCm39)	missense	probably benign	0.01
R6044:Tmem131	UTSW	1	36,920,422 (GRCm39)	nonsense	probably null
R6125:Tmem131	UTSW	1	36,847,387 (GRCm39)	missense	possibly damaging	0.95
R6259:Tmem131	UTSW	1	36,858,209 (GRCm39)	missense	probably benign	0.09
R6392:Tmem131	UTSW	1	36,920,423 (GRCm39)	missense	probably benign	0.10
R6704:Tmem131	UTSW	1	36,835,261 (GRCm39)	missense	possibly damaging	0.77
R6828:Tmem131	UTSW	1	36,843,724 (GRCm39)	missense	possibly damaging	0.46
R6964:Tmem131	UTSW	1	36,835,373 (GRCm39)	missense	probably damaging	0.99
R7034:Tmem131	UTSW	1	36,832,054 (GRCm39)	missense	possibly damaging	0.80
R7036:Tmem131	UTSW	1	36,832,054 (GRCm39)	missense	possibly damaging	0.80
R7081:Tmem131	UTSW	1	36,928,376 (GRCm39)	missense	possibly damaging	0.94
R7278:Tmem131	UTSW	1	36,835,382 (GRCm39)	missense	probably damaging	0.99
R7282:Tmem131	UTSW	1	36,880,685 (GRCm39)	missense	probably damaging	1.00
R7294:Tmem131	UTSW	1	36,893,928 (GRCm39)	missense	possibly damaging	0.88
R7635:Tmem131	UTSW	1	36,911,629 (GRCm39)	missense	probably damaging	1.00
R7916:Tmem131	UTSW	1	36,862,167 (GRCm39)	missense	probably benign	0.00
R7948:Tmem131	UTSW	1	36,833,229 (GRCm39)	missense	probably damaging	1.00
R8012:Tmem131	UTSW	1	36,847,045 (GRCm39)	missense	probably damaging	1.00
R8244:Tmem131	UTSW	1	36,847,974 (GRCm39)	missense	probably benign	0.08
R8461:Tmem131	UTSW	1	36,833,902 (GRCm39)	missense	probably damaging	1.00
R8770:Tmem131	UTSW	1	36,838,186 (GRCm39)	splice site	probably benign
R8902:Tmem131	UTSW	1	36,848,046 (GRCm39)	missense	probably damaging	1.00
R8915:Tmem131	UTSW	1	36,868,658 (GRCm39)	missense	probably damaging	1.00
R8984:Tmem131	UTSW	1	36,867,228 (GRCm39)	missense	probably benign	0.05
R8994:Tmem131	UTSW	1	36,854,538 (GRCm39)	missense	probably benign	0.29
R9105:Tmem131	UTSW	1	36,854,591 (GRCm39)	missense	probably benign	0.44
R9156:Tmem131	UTSW	1	36,880,767 (GRCm39)	missense	possibly damaging	0.88
R9328:Tmem131	UTSW	1	36,858,236 (GRCm39)	nonsense	probably null
R9501:Tmem131	UTSW	1	36,858,265 (GRCm39)	missense	possibly damaging	0.73
R9633:Tmem131	UTSW	1	36,847,069 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmem131	UTSW	1	36,835,338 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05