Mutagenetix > Incidental Mutation

Incidental Mutation 'R4502:Tmem131'

331830

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

041754-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R4502 (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 36864560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 558 (T558A)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably benign
Transcript: ENSMUST00000027290
AA Change: T558A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: T558A

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 benign
Transcript: ENSMUST00000194563
AA Change: T558A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: T558A

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: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,369,962 (GRCm39)	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,775 (GRCm39)	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,407,246 (GRCm39)	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 106,292,430 (GRCm39)	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,236,192 (GRCm39)	S104C	probably damaging	Het
Cand1	T	C	10: 119,052,572 (GRCm39)	T185A	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Chodl	A	G	16: 78,728,332 (GRCm39)	S26G	possibly damaging	Het
Cic	C	T	7: 24,987,892 (GRCm39)	P620S	probably damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Dpyd	G	T	3: 118,591,186 (GRCm39)	G225C	probably damaging	Het
Dst	G	A	1: 34,286,772 (GRCm39)	V5560M	probably damaging	Het
Eea1	G	A	10: 95,875,427 (GRCm39)	E1233K	probably benign	Het
Fryl	T	C	5: 73,245,740 (GRCm39)	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
Hc	T	C	2: 34,896,264 (GRCm39)	D1173G	probably benign	Het
Htr2a	T	A	14: 74,879,428 (GRCm39)	M19K	probably benign	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Kcnt2	G	T	1: 140,435,485 (GRCm39)	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klhl1	A	G	14: 96,755,282 (GRCm39)	S158P	probably benign	Het
Ldb2	T	C	5: 44,826,749 (GRCm39)	D62G	probably damaging	Het
Ldhb	T	C	6: 142,436,183 (GRCm39)	K329E	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Or2p2	A	T	13: 21,256,916 (GRCm39)	I185N	probably damaging	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pi4kb	T	A	3: 94,903,918 (GRCm39)	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,435,750 (GRCm39)	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,085,339 (GRCm39)	R428I	probably benign	Het
Rbbp8nl	G	T	2: 179,920,989 (GRCm39)	T465N	possibly damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,835,211 (GRCm39)	K154R	probably benign	Het
Sil1	T	C	18: 35,450,928 (GRCm39)	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,067,964 (GRCm39)	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,556,154 (GRCm39)	N264S	probably benign	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Tdrd5	T	A	1: 156,128,334 (GRCm39)	M141L	probably benign	Het
Tdrd9	T	C	12: 111,960,259 (GRCm39)	C182R	probably damaging	Het
Thap4	T	C	1: 93,678,709 (GRCm39)		probably null	Het
Tnks1bp1	C	T	2: 84,892,991 (GRCm39)	R973*	probably null	Het
Ulk3	A	G	9: 57,500,512 (GRCm39)	Y307C	probably damaging	Het
Usp25	T	C	16: 76,912,284 (GRCm39)	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,764 (GRCm39)	T39S	probably benign	Het
Vps33b	G	A	7: 79,937,655 (GRCm39)	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,219,363 (GRCm39)	S130P	probably damaging	Het
Zfp236	T	C	18: 82,655,079 (GRCm39)	E730G	probably benign	Het
Zfp689	C	A	7: 127,047,925 (GRCm39)	V36L	probably benign	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	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
R2879:Tmem131	UTSW	1	36,880,788 (GRCm39)	missense	possibly damaging	0.76
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
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'- TTGCAATCACCGTGCTTCTG -3'
(R):5'- TGTCCGAAGTTCTCAGCATATC -3'

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

Posted On

2015-07-21