Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Tmem131'

215129

Institutional Source

Beutler Lab

Gene Symbol

Tmem131

Ensembl Gene

ENSMUSG00000026116

Gene Name

transmembrane protein 131

Synonyms

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

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36792191-36943666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36812271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 966 (V966A)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027290
AA Change: V966A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: V966A

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: ENSMUST00000187917

Predicted Effect

probably benign
Transcript: ENSMUST00000189470

Predicted Effect

probably benign
Transcript: ENSMUST00000190442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191381

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194563
AA Change: V966A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: V966A

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

0.1243

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297 (GRCm38)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,157,886 (GRCm38)		probably null	Het
Angel1	A	C	12: 86,702,319 (GRCm38)	L656V	probably damaging	Het
Ankrd12	G	A	17: 65,986,686 (GRCm38)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,307,615 (GRCm38)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm38)	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094 (GRCm38)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,894,630 (GRCm38)		silent	Het
Btc	T	C	5: 91,362,401 (GRCm38)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,703,370 (GRCm38)	L336P	probably damaging	Het
Ccdc83	C	T	7: 90,224,077 (GRCm38)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 127,193,878 (GRCm38)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,071,917 (GRCm38)	T216A	probably benign	Het
Cdk17	T	C	10: 93,228,678 (GRCm38)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,525,233 (GRCm38)	E230G	probably benign	Het
Chst11	T	C	10: 83,191,170 (GRCm38)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,607,298 (GRCm38)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957 (GRCm38)	R624L	probably null	Het
Cyp27b1	T	A	10: 127,048,312 (GRCm38)	V11D	probably damaging	Het
Ddc	T	C	11: 11,835,764 (GRCm38)	N308D	probably damaging	Het
Des	T	G	1: 75,363,493 (GRCm38)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883 (GRCm38)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,975,129 (GRCm38)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,976,398 (GRCm38)	S2785G	probably benign	Het
Dopey1	T	G	9: 86,494,418 (GRCm38)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,933,689 (GRCm38)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,892,962 (GRCm38)		probably benign	Het
Elac2	T	A	11: 64,979,189 (GRCm38)	S27T	probably benign	Het
Emsy	T	G	7: 98,626,623 (GRCm38)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888 (GRCm38)	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187 (GRCm38)	T509S	probably benign	Het
Fgd6	T	C	10: 94,045,006 (GRCm38)	V574A	probably benign	Het
Filip1	T	C	9: 79,819,930 (GRCm38)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,833,855 (GRCm38)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047 (GRCm38)	I310N	possibly damaging	Het
Focad	A	G	4: 88,342,212 (GRCm38)	N902D	unknown	Het
Focad	A	G	4: 88,397,179 (GRCm38)	S1525G	probably benign	Het
Fras1	T	C	5: 96,667,437 (GRCm38)	W1338R	probably benign	Het
Fry	A	G	5: 150,400,924 (GRCm38)	I1151V	probably null	Het
Gm10076	T	G	14: 105,681,870 (GRCm38)		noncoding transcript	Het
Gm13088	G	A	4: 143,654,142 (GRCm38)	T437I	probably damaging	Het
Gm5698	T	G	1: 30,977,961 (GRCm38)	D3A	probably damaging	Het
Gm8394	A	G	10: 85,313,731 (GRCm38)		noncoding transcript	Het
Gngt2	C	T	11: 95,845,146 (GRCm38)		probably benign	Het
Gsdma	T	C	11: 98,671,367 (GRCm38)		probably null	Het
Gtf2h3	A	T	5: 124,602,199 (GRCm38)		probably benign	Het
Hkdc1	T	C	10: 62,417,898 (GRCm38)	T35A	probably benign	Het
Irs1	T	C	1: 82,288,459 (GRCm38)	S679G	probably benign	Het
Itpr1	T	A	6: 108,493,755 (GRCm38)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906 (GRCm38)	74	probably benign	Het
Kcnk16	A	G	14: 20,265,279 (GRCm38)	V72A	probably damaging	Het
Lipa	T	A	19: 34,510,890 (GRCm38)	R119*	probably null	Het
Matr3	T	A	18: 35,588,325 (GRCm38)		probably benign	Het
Med13l	T	G	5: 118,728,833 (GRCm38)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,873,914 (GRCm38)	V388A	probably benign	Het
Mki67	C	T	7: 135,698,065 (GRCm38)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm38)		probably benign	Het
Msh5	A	G	17: 35,044,390 (GRCm38)	I154T	probably benign	Het
Myo5b	G	T	18: 74,733,925 (GRCm38)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,956,951 (GRCm38)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347 (GRCm38)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,516,723 (GRCm38)		probably null	Het
Olfr1234	A	G	2: 89,363,009 (GRCm38)	V140A	probably benign	Het
Olfr376	T	A	11: 73,375,601 (GRCm38)	V287E	probably damaging	Het
Olfr870	T	A	9: 20,171,409 (GRCm38)	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,371,037 (GRCm38)	E523G	probably damaging	Het
Per3	T	A	4: 151,018,885 (GRCm38)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524 (GRCm38)	L66I	probably damaging	Het
Pigr	G	A	1: 130,846,662 (GRCm38)		probably benign	Het
Pkd1l1	A	T	11: 8,836,197 (GRCm38)		probably benign	Het
Plch1	T	A	3: 63,744,535 (GRCm38)	K378N	probably damaging	Het
Plxnb1	T	C	9: 109,102,708 (GRCm38)		probably null	Het
Prkdc	A	G	16: 15,654,817 (GRCm38)		probably null	Het
Prrc1	G	T	18: 57,381,646 (GRCm38)	D312Y	probably damaging	Het
Rab3gap2	T	A	1: 185,283,542 (GRCm38)		probably null	Het
Rgs3	A	G	4: 62,702,147 (GRCm38)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 69,796,444 (GRCm38)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,591,784 (GRCm38)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm38)	C565*	probably null	Het
Samd3	A	G	10: 26,263,986 (GRCm38)		probably benign	Het
Sec61a2	A	G	2: 5,873,736 (GRCm38)		probably benign	Het
Serpina3m	G	A	12: 104,389,322 (GRCm38)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,999,026 (GRCm38)	I251L	possibly damaging	Het
Sez6	C	T	11: 77,972,932 (GRCm38)	T439I	probably damaging	Het
Shc1	G	A	3: 89,423,542 (GRCm38)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,198,578 (GRCm38)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,245,604 (GRCm38)	S278F	probably damaging	Het
Spg11	C	T	2: 122,060,207 (GRCm38)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,128,039 (GRCm38)		probably null	Het
Suclg2	T	C	6: 95,589,094 (GRCm38)		probably benign	Het
Tlr4	A	T	4: 66,839,444 (GRCm38)	H158L	probably damaging	Het
Tram1l1	T	A	3: 124,321,986 (GRCm38)	I265N	probably damaging	Het
Trim58	T	A	11: 58,640,667 (GRCm38)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,281,824 (GRCm38)	Q74R	probably benign	Het
Usp7	T	C	16: 8,698,469 (GRCm38)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,339,258 (GRCm38)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,189,555 (GRCm38)	C191R	probably damaging	Het
Zfp451	G	A	1: 33,783,856 (GRCm38)	P99S	probably benign	Het
Zfp451	A	G	1: 33,782,193 (GRCm38)	F151L	probably damaging	Het
Zfp729b	A	T	13: 67,592,233 (GRCm38)	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803 (GRCm38)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,769,748 (GRCm38)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,225,547 (GRCm38)	G413D	probably damaging	Het

Other mutations in Tmem131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tmem131	APN	1	36,811,427 (GRCm38)	missense	probably damaging	1.00
IGL00945:Tmem131	APN	1	36,827,005 (GRCm38)	splice site	probably benign
IGL01107:Tmem131	APN	1	36,829,581 (GRCm38)	missense	probably damaging	1.00
IGL01401:Tmem131	APN	1	36,799,387 (GRCm38)	missense	probably damaging	1.00
IGL01533:Tmem131	APN	1	36,818,722 (GRCm38)	missense	probably damaging	1.00
IGL01701:Tmem131	APN	1	36,808,237 (GRCm38)	missense	probably benign	0.02
IGL01784:Tmem131	APN	1	36,815,483 (GRCm38)	missense	probably damaging	1.00
IGL01890:Tmem131	APN	1	36,823,156 (GRCm38)	splice site	probably benign
IGL01969:Tmem131	APN	1	36,825,460 (GRCm38)	missense	possibly damaging	0.85
IGL02327:Tmem131	APN	1	36,799,022 (GRCm38)	missense	probably damaging	1.00
IGL02707:Tmem131	APN	1	36,825,479 (GRCm38)	missense	probably benign	0.03
IGL02743:Tmem131	APN	1	36,793,151 (GRCm38)	missense	probably benign	0.00
IGL03111:Tmem131	APN	1	36,828,144 (GRCm38)	missense	probably damaging	1.00
R0063:Tmem131	UTSW	1	36,819,128 (GRCm38)	missense	probably benign	0.09
R0063:Tmem131	UTSW	1	36,819,128 (GRCm38)	missense	probably benign	0.09
R0238:Tmem131	UTSW	1	36,828,050 (GRCm38)	splice site	probably benign
R0239:Tmem131	UTSW	1	36,828,050 (GRCm38)	splice site	probably benign
R0499:Tmem131	UTSW	1	36,841,673 (GRCm38)	missense	probably damaging	1.00
R0548:Tmem131	UTSW	1	36,838,038 (GRCm38)	missense	probably damaging	1.00
R0845:Tmem131	UTSW	1	36,816,222 (GRCm38)	missense	probably damaging	1.00
R0975:Tmem131	UTSW	1	36,854,885 (GRCm38)	missense	probably damaging	1.00
R1018:Tmem131	UTSW	1	36,794,819 (GRCm38)	missense	probably damaging	0.98
R1170:Tmem131	UTSW	1	36,834,898 (GRCm38)	nonsense	probably null
R1443:Tmem131	UTSW	1	36,825,478 (GRCm38)	missense	probably damaging	0.98
R1448:Tmem131	UTSW	1	36,827,358 (GRCm38)	missense	probably benign	0.16
R1472:Tmem131	UTSW	1	36,816,241 (GRCm38)	missense	possibly damaging	0.68
R1530:Tmem131	UTSW	1	36,827,009 (GRCm38)	critical splice donor site	probably null
R1672:Tmem131	UTSW	1	36,824,759 (GRCm38)	missense	probably damaging	1.00
R1872:Tmem131	UTSW	1	36,807,927 (GRCm38)	missense	probably benign	0.05
R1914:Tmem131	UTSW	1	36,796,266 (GRCm38)	missense	probably damaging	1.00
R1915:Tmem131	UTSW	1	36,796,266 (GRCm38)	missense	probably damaging	1.00
R1971:Tmem131	UTSW	1	36,804,599 (GRCm38)	nonsense	probably null
R2146:Tmem131	UTSW	1	36,812,609 (GRCm38)	missense	probably benign	0.13
R2148:Tmem131	UTSW	1	36,812,609 (GRCm38)	missense	probably benign	0.13
R2149:Tmem131	UTSW	1	36,812,609 (GRCm38)	missense	probably benign	0.13
R2150:Tmem131	UTSW	1	36,812,609 (GRCm38)	missense	probably benign	0.13
R2386:Tmem131	UTSW	1	36,829,635 (GRCm38)	missense	probably benign	0.00
R2879:Tmem131	UTSW	1	36,841,707 (GRCm38)	missense	possibly damaging	0.76
R2903:Tmem131	UTSW	1	36,825,297 (GRCm38)	missense	probably damaging	1.00
R3430:Tmem131	UTSW	1	36,808,821 (GRCm38)	splice site	probably benign
R3821:Tmem131	UTSW	1	36,808,396 (GRCm38)	missense	probably damaging	0.99
R3961:Tmem131	UTSW	1	36,818,950 (GRCm38)	missense	probably damaging	1.00
R4153:Tmem131	UTSW	1	36,808,793 (GRCm38)	intron	probably benign
R4154:Tmem131	UTSW	1	36,808,793 (GRCm38)	intron	probably benign
R4502:Tmem131	UTSW	1	36,825,479 (GRCm38)	missense	probably benign	0.03
R4503:Tmem131	UTSW	1	36,825,479 (GRCm38)	missense	probably benign	0.03
R4795:Tmem131	UTSW	1	36,841,676 (GRCm38)	missense	probably damaging	1.00
R5030:Tmem131	UTSW	1	36,827,174 (GRCm38)	missense	possibly damaging	0.78
R5068:Tmem131	UTSW	1	36,854,905 (GRCm38)	missense	probably damaging	1.00
R5070:Tmem131	UTSW	1	36,854,905 (GRCm38)	missense	probably damaging	1.00
R5386:Tmem131	UTSW	1	36,872,558 (GRCm38)	missense	possibly damaging	0.47
R5507:Tmem131	UTSW	1	36,889,280 (GRCm38)	missense	probably damaging	1.00
R5569:Tmem131	UTSW	1	36,799,338 (GRCm38)	missense	probably benign	0.02
R5913:Tmem131	UTSW	1	36,819,128 (GRCm38)	missense	probably benign	0.01
R6044:Tmem131	UTSW	1	36,881,341 (GRCm38)	nonsense	probably null
R6125:Tmem131	UTSW	1	36,808,306 (GRCm38)	missense	possibly damaging	0.95
R6259:Tmem131	UTSW	1	36,819,128 (GRCm38)	missense	probably benign	0.09
R6392:Tmem131	UTSW	1	36,881,342 (GRCm38)	missense	probably benign	0.10
R6704:Tmem131	UTSW	1	36,796,180 (GRCm38)	missense	possibly damaging	0.77
R6828:Tmem131	UTSW	1	36,804,643 (GRCm38)	missense	possibly damaging	0.46
R6964:Tmem131	UTSW	1	36,796,292 (GRCm38)	missense	probably damaging	0.99
R7034:Tmem131	UTSW	1	36,792,973 (GRCm38)	missense	possibly damaging	0.80
R7036:Tmem131	UTSW	1	36,792,973 (GRCm38)	missense	possibly damaging	0.80
R7081:Tmem131	UTSW	1	36,889,295 (GRCm38)	missense	possibly damaging	0.94
R7278:Tmem131	UTSW	1	36,796,301 (GRCm38)	missense	probably damaging	0.99
R7282:Tmem131	UTSW	1	36,841,604 (GRCm38)	missense	probably damaging	1.00
R7294:Tmem131	UTSW	1	36,854,847 (GRCm38)	missense	possibly damaging	0.88
R7635:Tmem131	UTSW	1	36,872,548 (GRCm38)	missense	probably damaging	1.00
R7916:Tmem131	UTSW	1	36,823,086 (GRCm38)	missense	probably benign	0.00
R7948:Tmem131	UTSW	1	36,794,148 (GRCm38)	missense	probably damaging	1.00
R8012:Tmem131	UTSW	1	36,807,964 (GRCm38)	missense	probably damaging	1.00
R8244:Tmem131	UTSW	1	36,808,893 (GRCm38)	missense	probably benign	0.08
R8461:Tmem131	UTSW	1	36,794,821 (GRCm38)	missense	probably damaging	1.00
R8770:Tmem131	UTSW	1	36,799,105 (GRCm38)	splice site	probably benign
R8902:Tmem131	UTSW	1	36,808,965 (GRCm38)	missense	probably damaging	1.00
R8915:Tmem131	UTSW	1	36,829,577 (GRCm38)	missense	probably damaging	1.00
R8984:Tmem131	UTSW	1	36,828,147 (GRCm38)	missense	probably benign	0.05
R8994:Tmem131	UTSW	1	36,815,457 (GRCm38)	missense	probably benign	0.29
R9105:Tmem131	UTSW	1	36,815,510 (GRCm38)	missense	probably benign	0.44
R9156:Tmem131	UTSW	1	36,841,686 (GRCm38)	missense	possibly damaging	0.88
R9328:Tmem131	UTSW	1	36,819,155 (GRCm38)	nonsense	probably null
R9501:Tmem131	UTSW	1	36,819,184 (GRCm38)	missense	possibly damaging	0.73
R9633:Tmem131	UTSW	1	36,807,988 (GRCm38)	missense	probably damaging	0.99
Z1176:Tmem131	UTSW	1	36,796,257 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTATGCACATTTGGAAACAC -3'
(R):5'- GCACAGCGTCCTTTACCATATG -3'

Sequencing Primer
(F):5'- TGGAAACACTATTTTTGCTTCTGG -3'
(R):5'- AGCGTCCTTTACCATATGAGACTTAC -3'

Posted On

2014-07-14