Mutagenetix > Incidental Mutation

Incidental Mutation 'R0845:Tmem131'

77308

Institutional Source

Beutler Lab

Gene Symbol

Tmem131

Ensembl Gene

ENSMUSG00000026116

Gene Name

transmembrane protein 131

Synonyms

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

MMRRC Submission

039024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R0845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36831270-36978714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36855303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 808 (T808A)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000186486] [ENSMUST00000189470] [ENSMUST00000190442] [ENSMUST00000194563]

AlphaFold

O70472

Predicted Effect

probably damaging
Transcript: ENSMUST00000027290
AA Change: T808A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: T808A

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: ENSMUST00000189470
AA Change: T44A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190442
AA Change: T109A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191381

Predicted Effect

probably damaging
Transcript: ENSMUST00000194563
AA Change: T808A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: T808A

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

Meta Mutation Damage Score

0.3539

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 93.2%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	G	T	7: 28,612,855 (GRCm39)	A116E	probably damaging	Het
Adamtsl3	A	G	7: 82,225,204 (GRCm39)	I338V	probably damaging	Het
Akap13	T	G	7: 75,375,128 (GRCm39)	V1920G	probably damaging	Het
Atp6v0d2	C	T	4: 19,880,055 (GRCm39)	V281I	probably benign	Het
AW209491	T	G	13: 14,811,607 (GRCm39)	S153R	probably damaging	Het
Brd7	A	T	8: 89,069,395 (GRCm39)	Y433*	probably null	Het
Bub1b	A	G	2: 118,440,457 (GRCm39)	H187R	probably damaging	Het
Clstn2	T	A	9: 97,452,681 (GRCm39)	Q242L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Comt	T	C	16: 18,226,711 (GRCm39)	Y225C	probably damaging	Het
Ctbs	T	A	3: 146,160,862 (GRCm39)	L143Q	probably damaging	Het
Ctsw	T	C	19: 5,515,489 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,194,194 (GRCm39)	I435T	probably damaging	Het
Dmxl1	T	C	18: 50,026,469 (GRCm39)	F1859S	probably damaging	Het
Glud1	A	G	14: 34,051,351 (GRCm39)		probably benign	Het
Gm8220	A	G	14: 44,524,248 (GRCm39)	H71R	probably damaging	Het
Gnb1l	A	G	16: 18,371,223 (GRCm39)	E238G	probably benign	Het
H2-T23	T	C	17: 36,341,475 (GRCm39)	H332R	probably benign	Het
Itga5	T	A	15: 103,259,196 (GRCm39)	T744S	probably benign	Het
Larp1	A	G	11: 57,938,576 (GRCm39)	E453G	probably benign	Het
Lrrk2	C	A	15: 91,640,165 (GRCm39)	P1570Q	probably benign	Het
Lrsam1	C	T	2: 32,843,455 (GRCm39)	R150Q	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Msln	T	C	17: 25,969,770 (GRCm39)	Y320C	probably damaging	Het
Mtbp	T	C	15: 55,426,486 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,404,183 (GRCm39)		probably null	Het
Mup21	A	G	4: 62,068,547 (GRCm39)	S40P	probably damaging	Het
Myh8	T	C	11: 67,177,090 (GRCm39)	V414A	probably damaging	Het
P2rx5	T	C	11: 73,056,400 (GRCm39)	I108T	probably damaging	Het
Paqr9	T	C	9: 95,442,793 (GRCm39)	L261P	probably damaging	Het
Pde5a	A	G	3: 122,522,980 (GRCm39)	D29G	probably benign	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Pih1d1	A	G	7: 44,809,106 (GRCm39)	D230G	probably benign	Het
Pik3r1	G	T	13: 101,822,772 (GRCm39)	D643E	probably benign	Het
Rnf207	A	G	4: 152,396,521 (GRCm39)		probably benign	Het
Septin9	T	C	11: 117,247,151 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,401,479 (GRCm39)	S105T	probably benign	Het
Slc8a1	A	G	17: 81,745,177 (GRCm39)	S676P	probably benign	Het
Srrm4	C	T	5: 116,582,944 (GRCm39)		probably null	Het
Tcn2	T	A	11: 3,869,349 (GRCm39)	D391V	probably benign	Het
Ubqln3	G	T	7: 103,791,275 (GRCm39)	Q272K	probably damaging	Het
Unc79	T	C	12: 103,139,703 (GRCm39)		probably benign	Het
Xpo6	G	A	7: 125,728,715 (GRCm39)		probably benign	Het
Zfp667	A	T	7: 6,309,091 (GRCm39)	K586N	possibly damaging	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
IGL01401:Tmem131	APN	1	36,838,468 (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
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

Predicted Primers

PCR Primer
(F):5'- TTACAGCGTCGGCTCTCTAACCAC -3'
(R):5'- ATGTCAAGCCAGCACCTCTTGTCC -3'

Sequencing Primer
(F):5'- GGCCATTTGAACACTTACCG -3'
(R):5'- tgttgatgtagttcagtggtagg -3'

Posted On

2013-10-16