Mutagenetix > Incidental Mutation

Incidental Mutation 'R2879:Tmem131'

260210

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

040467-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R2879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36831270-36978714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36880788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 161 (I161V)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000185964] [ENSMUST00000194563]

AlphaFold

O70472

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027290
AA Change: I161V

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: I161V

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: ENSMUST00000185964
AA Change: I50V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194563
AA Change: I161V

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: I161V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Acte1	T	A	7: 143,447,800 (GRCm39)	Y214*	probably null	Het
Akap9	A	G	5: 4,026,353 (GRCm39)		probably benign	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Arhgef10l	G	T	4: 140,242,598 (GRCm39)	H890Q	probably benign	Het
Ccnj	T	A	19: 40,833,158 (GRCm39)	L112Q	probably damaging	Het
Chaf1a	T	C	17: 56,351,114 (GRCm39)		probably null	Het
Chchd4	A	G	6: 91,442,200 (GRCm39)	S73P	probably damaging	Het
Chd3	T	C	11: 69,254,924 (GRCm39)	K139E	possibly damaging	Het
Cyp2b13	T	G	7: 25,785,456 (GRCm39)		probably null	Het
Dagla	T	C	19: 10,248,448 (GRCm39)	I71V	possibly damaging	Het
Epor	A	T	9: 21,870,936 (GRCm39)	W315R	probably damaging	Het
Etv1	T	A	12: 38,833,809 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,202,314 (GRCm39)	C1280S	probably damaging	Het
Fbxo2	G	C	4: 148,250,468 (GRCm39)	R269P	probably damaging	Het
Fer1l4	A	T	2: 155,894,120 (GRCm39)	L61Q	probably damaging	Het
Ggnbp2	C	T	11: 84,723,797 (GRCm39)		probably null	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ibsp	G	A	5: 104,458,260 (GRCm39)	E266K	possibly damaging	Het
Lamb3	T	A	1: 193,013,092 (GRCm39)	M439K	possibly damaging	Het
Lnx1	C	T	5: 74,780,784 (GRCm39)	V246M	probably benign	Het
Lrrc32	A	G	7: 98,148,984 (GRCm39)	Q588R	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Med13	C	T	11: 86,189,988 (GRCm39)	A974T	possibly damaging	Het
Mogat2	A	T	7: 98,871,573 (GRCm39)	I246N	possibly damaging	Het
Myl2	T	C	5: 122,242,748 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or1p1c	T	A	11: 74,161,049 (GRCm39)	V278D	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pik3r2	A	G	8: 71,225,029 (GRCm39)	Y145H	probably benign	Het
Plg	A	G	17: 12,622,987 (GRCm39)	E509G	possibly damaging	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ros1	C	T	10: 52,048,936 (GRCm39)		probably null	Het
Sbno1	A	G	5: 124,526,635 (GRCm39)	M960T	probably damaging	Het
Smad1	T	C	8: 80,080,084 (GRCm39)		probably null	Het
Ssc5d	G	A	7: 4,939,906 (GRCm39)		probably null	Het
Tfcp2	C	T	15: 100,449,201 (GRCm39)		probably null	Het
Tmem121	A	G	12: 113,152,028 (GRCm39)	Y82C	probably damaging	Het
Tpp2	T	A	1: 44,010,783 (GRCm39)	F523L	probably damaging	Het
Ttn	C	T	2: 76,601,849 (GRCm39)		silent	Het
Ttpal	A	G	2: 163,457,503 (GRCm39)		probably null	Het
Vdr	T	A	15: 97,757,008 (GRCm39)	Y288F	probably benign	Het
Wipf2	C	T	11: 98,783,480 (GRCm39)	A302V	probably benign	Het
Zfp346	T	G	13: 55,253,163 (GRCm39)	C3G	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
R0845:Tmem131	UTSW	1	36,855,303 (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
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'- TAAGTGCCCTAAACCTAATGTCCTG -3'
(R):5'- TCCATTGTACAACAGTGTGGC -3'

Sequencing Primer
(F):5'- CGCAGCTCCTAAAGGTTATCAGG -3'
(R):5'- GTACAACAGTGTGGCTAACTTG -3'

Posted On

2015-01-23