Mutagenetix > Incidental Mutation

Incidental Mutation 'R1872:Tmem131'

210795

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

039894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R1872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36792191-36943666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36807927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1363 (D1363E)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably benign
Transcript: ENSMUST00000027290
AA Change: D1363E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: D1363E

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

noncoding transcript
Transcript: ENSMUST00000191381

Predicted Effect

probably benign
Transcript: ENSMUST00000194563
AA Change: D1363E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: D1363E

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

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (113/117)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,556,844	C133Y	unknown	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abce1	A	G	8: 79,690,251	M377T	possibly damaging	Het
Adam25	A	T	8: 40,755,226	R510*	probably null	Het
Adamts12	G	T	15: 11,217,880	E308*	probably null	Het
Adgrg3	C	A	8: 95,033,442	N96K	possibly damaging	Het
Afdn	T	C	17: 13,881,316	V1022A	probably damaging	Het
Akap9	T	C	5: 4,001,406	V1391A	probably damaging	Het
Akip1	A	G	7: 109,711,775	Y174C	probably damaging	Het
Ap3b2	T	C	7: 81,464,150	T830A	unknown	Het
Aph1a	A	G	3: 95,895,564	T159A	probably damaging	Het
Ccdc146	T	C	5: 21,301,290	T718A	probably benign	Het
Cdk5r2	T	C	1: 74,855,822	L242P	probably damaging	Het
Cep97	T	A	16: 55,927,866	N67I	probably damaging	Het
Chic2	A	T	5: 75,011,479	W121R	possibly damaging	Het
Clock	A	G	5: 76,248,462	S147P	possibly damaging	Het
Cntnap5a	T	G	1: 116,089,210	S178A	probably benign	Het
Col11a2	C	A	17: 34,062,555		probably benign	Het
Col6a3	T	A	1: 90,830,214	H6L	probably damaging	Het
Cpne5	T	C	17: 29,204,693	N154D	probably benign	Het
Ctsz	T	G	2: 174,427,976	K273Q	probably benign	Het
Cybrd1	G	A	2: 71,129,760	V101M	probably benign	Het
Cyp2c23	T	A	19: 44,005,551	K459*	probably null	Het
Cyp4a31	A	T	4: 115,574,736	H419L	probably damaging	Het
D930020B18Rik	G	A	10: 121,641,974	V35M	probably damaging	Het
Dnah9	C	T	11: 66,037,490	V2118M	probably benign	Het
Doxl2	A	G	6: 48,975,620	I160V	probably benign	Het
Dtna	T	C	18: 23,597,560		probably null	Het
Ednra	C	T	8: 77,720,396	V18I	possibly damaging	Het
Elac1	T	C	18: 73,742,646	R105G	probably benign	Het
Exoc2	A	G	13: 30,822,661	S844P	probably benign	Het
Fam185a	A	T	5: 21,480,330		probably null	Het
Fam204a	A	G	19: 60,199,449	M233T	possibly damaging	Het
Fat1	C	A	8: 44,953,304	H1031N	probably benign	Het
Fat1	T	A	8: 45,038,349	Y3816N	probably damaging	Het
Fbxo38	C	T	18: 62,517,023	R621Q	probably benign	Het
Fhod3	C	A	18: 25,130,610	R1524S	probably damaging	Het
Fnip1	A	T	11: 54,487,735	R192W	probably damaging	Het
Frem3	T	A	8: 80,612,576	H499Q	probably damaging	Het
Gab2	C	T	7: 97,299,043	T280I	probably damaging	Het
Gdpgp1	A	G	7: 80,238,424	R68G	probably benign	Het
Gm10382	C	T	5: 125,389,560		probably benign	Het
Gm4858	T	A	3: 93,074,422	L249H	probably damaging	Het
Gmps	A	G	3: 64,001,517	H480R	probably benign	Het
Hecw1	G	A	13: 14,280,449	R674*	probably null	Het
Herc2	T	A	7: 56,157,509	F2478L	probably benign	Het
Homer2	C	T	7: 81,636,402	V21M	probably damaging	Het
Ifna9	A	G	4: 88,592,255	M44T	probably damaging	Het
Igfl3	A	G	7: 18,179,896	D57G	possibly damaging	Het
Jcad	T	C	18: 4,673,048	M270T	probably benign	Het
Kdm5b	T	C	1: 134,624,994	L1236P	probably damaging	Het
Kif14	T	A	1: 136,486,358	L724Q	probably damaging	Het
Lhb	T	C	7: 45,421,333	V45A	probably damaging	Het
Lhpp	A	G	7: 132,634,087	N134D	probably benign	Het
Mas1	T	C	17: 12,842,191	Y115C	probably damaging	Het
Mb21d1	T	C	9: 78,433,202	D416G	probably benign	Het
Mgam	A	T	6: 40,661,300	K395*	probably null	Het
Mms22l	A	G	4: 24,598,807	N1134S	probably damaging	Het
Mrc1	A	G	2: 14,325,381		probably null	Het
Mrgprg	G	A	7: 143,764,544	S277L	probably damaging	Het
Mrpl49	G	T	19: 6,056,980	P60T	possibly damaging	Het
Mrps10	G	A	17: 47,372,452	G104D	possibly damaging	Het
Msantd3	A	G	4: 48,552,771	Y120C	probably damaging	Het
N4bp2	C	T	5: 65,794,518		probably benign	Het
Nbea	A	G	3: 55,642,889	V2706A	probably benign	Het
Nfic	T	A	10: 81,420,684	M71L	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1112	A	G	2: 87,191,878	T64A	possibly damaging	Het
Olfr115	G	T	17: 37,609,912	P280T	probably damaging	Het
Olfr1202	T	A	2: 88,817,936	V255E	probably benign	Het
Olfr1234	A	G	2: 89,362,589	L280P	probably damaging	Het
Pak7	T	C	2: 136,085,588	I655V	possibly damaging	Het
Pip5k1c	A	G	10: 81,306,319	N121S	probably damaging	Het
Plce1	A	T	19: 38,760,077	I1737F	probably damaging	Het
Prrt1	T	C	17: 34,630,951	L113P	probably damaging	Het
Ptprq	T	A	10: 107,643,999	T1137S	probably benign	Het
Recql5	T	C	11: 115,923,309	I223V	probably benign	Het
Reg3g	A	T	6: 78,467,853	Y47*	probably null	Het
Rgs12	T	G	5: 34,965,821	M316R	probably damaging	Het
Ric1	T	C	19: 29,602,668	S1290P	probably benign	Het
Rpl36al	A	G	12: 69,182,923	C72R	probably damaging	Het
Rplp0	T	A	5: 115,563,315	F275L	possibly damaging	Het
Rpp30	G	A	19: 36,087,393	V89I	probably benign	Het
Ryr3	A	G	2: 112,709,137	F3253L	possibly damaging	Het
Serpina3n	A	T	12: 104,408,944	N92Y	probably benign	Het
Setd7	G	T	3: 51,542,831	T58N	probably benign	Het
Sh3tc2	T	A	18: 62,011,883	L1136Q	probably damaging	Het
Slc35b4	G	A	6: 34,158,505	Q291*	probably null	Het
Soga1	A	G	2: 157,040,261	C624R	possibly damaging	Het
Sort1	A	G	3: 108,340,695	N452S	probably benign	Het
Sympk	A	G	7: 19,029,145	I46V	probably benign	Het
Syngr2	T	C	11: 117,812,538	V60A	probably damaging	Het
Syt17	A	T	7: 118,408,118	F318I	probably benign	Het
Tgfb1	T	A	7: 25,692,466	L149M	probably damaging	Het
Ticam1	A	T	17: 56,271,897	M66K	probably benign	Het
Tns4	A	C	11: 99,080,100	D261E	probably damaging	Het
Trim30a	T	C	7: 104,429,210	N220D	probably benign	Het
Trmt10a	T	C	3: 138,156,720	L257P	probably damaging	Het
Troap	G	T	15: 99,075,352		probably benign	Het
Ttc6	T	C	12: 57,704,552		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vav1	A	C	17: 57,324,750	K775T	probably damaging	Het
Vmn1r236	A	G	17: 21,287,411	K264E	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,628	V46A	probably benign	Het
Wdr59	A	T	8: 111,459,017	W835R	probably damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp7	T	G	15: 76,891,777	I673S	probably benign	Het
Zmynd11	A	G	13: 9,698,701	I108T	possibly 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
IGL01107:Tmem131	APN	1	36829581	missense	probably damaging	1.00
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
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
R9501:Tmem131	UTSW	1	36819184	missense	possibly damaging	0.73
R9633:Tmem131	UTSW	1	36807988	missense	probably damaging	0.99
Z1176:Tmem131	UTSW	1	36796257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATACAGAGAGGCCATTGC -3'
(R):5'- GTCACACAGCAAGCAGGAAGTC -3'

Sequencing Primer
(F):5'- TACAGAGAGGCCATTGCTTCCC -3'
(R):5'- CCACTGGAGCAGCACTC -3'

Posted On

2014-06-30