Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Tmem131'

158619

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

039498-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36792191-36943666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36825478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 558 (T558I)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably damaging
Transcript: ENSMUST00000027290
AA Change: T558I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: T558I

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: ENSMUST00000194563
AA Change: T558I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: T558I

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

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,262,798	S56R	probably damaging	Het
Actr8	A	G	14: 29,984,099	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 27,103,066	C703S	possibly damaging	Het
Afap1	G	T	5: 35,968,661	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,264,307	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aoc1	A	T	6: 48,905,445	K107M	possibly damaging	Het
Bmp8a	G	T	4: 123,316,965	S252R	possibly damaging	Het
C7	T	C	15: 5,059,419	I13M	probably benign	Het
Cblb	T	A	16: 52,139,611	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,932,721	T180I	probably damaging	Het
Clrn2	C	T	5: 45,460,111	A108V	probably damaging	Het
Cspg4	T	A	9: 56,886,512	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,777,971	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,364,069	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,469,020	M544K	probably benign	Het
Doxl2	A	T	6: 48,975,915	Y258F	probably damaging	Het
Ell3	A	T	2: 121,439,465	F388I	probably damaging	Het
Fam208b	T	C	13: 3,575,543	K1469R	probably benign	Het
Fam78b	A	G	1: 167,078,760	I163V	probably damaging	Het
Gnptab	T	C	10: 88,434,081	L882P	probably damaging	Het
Herc2	A	T	7: 56,204,733	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,833,414	E315G	probably benign	Het
Idh3b	A	T	2: 130,284,054		probably null	Het
Lama4	G	A	10: 39,073,643	E911K	probably damaging	Het
Macf1	A	G	4: 123,511,007	I436T	probably damaging	Het
Mgam	C	A	6: 40,759,780	S871*	probably null	Het
Mtmr7	A	G	8: 40,560,882	S212P	probably damaging	Het
Mylk2	A	G	2: 152,919,416	T480A	probably damaging	Het
Myo3a	A	T	2: 22,282,626	N191I	probably damaging	Het
Nanog	C	T	6: 122,711,775	S105F	probably damaging	Het
Nanos2	A	G	7: 18,987,639	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,155,643	V71I	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr1458	G	T	19: 13,103,204	Y33*	probably null	Het
Olfr1512	A	T	14: 52,372,951	I34N	probably damaging	Het
Olfr211	T	C	6: 116,494,425	L272S	probably benign	Het
Olfr643	A	T	7: 104,058,723	I293N	probably damaging	Het
Pcdhb17	A	G	18: 37,486,648	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,925,986	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Phyhip	A	G	14: 70,467,291	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,534,558	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Ptprn2	A	T	12: 117,253,615	K918N	probably damaging	Het
Rab42	T	C	4: 132,302,347	D188G	probably benign	Het
Rasgrf2	C	A	13: 91,983,676	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sbpl	T	C	17: 23,953,354	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,684,344	M410T	probably damaging	Het
Sntb1	A	T	15: 55,647,955	L411H	probably damaging	Het
Synj2	A	G	17: 6,023,665	K245E	probably damaging	Het
Tnrc18	A	T	5: 142,771,533	S1078T	unknown	Het
Trmu	T	A	15: 85,897,101		probably null	Het
Ttn	A	T	2: 76,891,086		probably benign	Het
Tyw3	T	C	3: 154,587,523	T172A	probably benign	Het
Vldlr	T	C	19: 27,239,721	I348T	possibly damaging	Het
Zfp114	A	G	7: 24,177,769	D12G	probably 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
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
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'- TGGGCCGGAAACACCCATTCTAAC -3'
(R):5'- ATTGTCCTTGTCCGAAGTTCTCAGC -3'

Sequencing Primer
(F):5'- TCTGGAAGGCTTGCAATCAC -3'
(R):5'- CCGAAGTTCTCAGCATATCATGTAG -3'

Posted On

2014-03-14