Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Tmem131'

233792

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

040149-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36792191-36943666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36812609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 938 (V938L)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably benign
Transcript: ENSMUST00000027290
AA Change: V938L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: V938L

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

probably benign
Transcript: ENSMUST00000194563
AA Change: V938L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: V938L

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

0.0796

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844		probably null	Het
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405	C13*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc185	G	T	1: 182,747,520	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225		probably benign	Het
Cd163	A	G	6: 124,309,208	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chsy3	G	A	18: 59,176,472	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cstf1	T	C	2: 172,375,763	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	C	T	15: 73,523,496	T146M	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378		probably benign	Het
Ints9	G	A	14: 64,986,343	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613	W441R	probably damaging	Het
Itga10	T	C	3: 96,651,492	L382P	possibly damaging	Het
Itga10	G	T	3: 96,653,723	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,779,090	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718	L314P	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Pkd2	A	C	5: 104,455,590		probably benign	Het
Reps1	T	A	10: 18,093,313	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tnpo3	A	G	6: 29,589,036	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707		probably benign	Het
Ttn	T	C	2: 76,897,188		probably benign	Het
Usp16	T	C	16: 87,473,187		probably null	Het
Usp36	A	G	11: 118,268,665	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	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
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
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'- CTTTAAGGGTGAAAATCCAAACCC -3'
(R):5'- TCCTCTGTATGAGCAGTTTGAGAG -3'

Sequencing Primer
(F):5'- ACCCATACAAAGCACAGTTTTTC -3'
(R):5'- TATGAGCAGTTTGAGAGGCCTAG -3'

Posted On

2014-10-01