Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Tmem131'

99259

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

039243-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36831270-36978714 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36873979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 271 (Y271*)

Ref Sequence

ENSEMBL: ENSMUSP00000142307 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably null
Transcript: ENSMUST00000027290
AA Change: Y271*

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: Y271*

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 null
Transcript: ENSMUST00000194563
AA Change: Y271*

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: Y271*

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

0.9756

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,856,163 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,105,671 (GRCm39)	S2914N	probably benign	Het
Alk	T	C	17: 72,207,729 (GRCm39)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,568,674 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,562,486 (GRCm39)		probably benign	Het
Asxl3	C	A	18: 22,657,564 (GRCm39)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,098,780 (GRCm39)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,079,388 (GRCm39)		probably benign	Het
C1qtnf1	G	T	11: 118,339,095 (GRCm39)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cage1	C	T	13: 38,206,856 (GRCm39)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,902,317 (GRCm39)	N59I	probably benign	Het
Ccdc110	G	T	8: 46,394,922 (GRCm39)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,830,581 (GRCm39)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,623,119 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Cers4	T	A	8: 4,569,475 (GRCm39)	W161R	probably damaging	Het
Ces2f	T	A	8: 105,680,178 (GRCm39)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,361,669 (GRCm39)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,629,750 (GRCm39)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,366,761 (GRCm39)	R234G	unknown	Het
Col3a1	A	T	1: 45,386,884 (GRCm39)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,378,768 (GRCm39)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Dcdc2a	C	A	13: 25,240,290 (GRCm39)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,781,571 (GRCm39)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,566,175 (GRCm39)	L452*	probably null	Het
Fam193b	C	T	13: 55,689,518 (GRCm39)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,713,781 (GRCm39)		probably benign	Het
Fastkd1	A	G	2: 69,538,993 (GRCm39)		probably benign	Het
Fmnl1	G	A	11: 103,088,196 (GRCm39)	G69D	probably benign	Het
Foxn2	A	G	17: 88,781,094 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,821,844 (GRCm39)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,912,820 (GRCm39)		noncoding transcript	Het
H2-T13	T	C	17: 36,391,983 (GRCm39)	N44S	possibly damaging	Het
Helz2	T	C	2: 180,871,608 (GRCm39)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,277,952 (GRCm39)	C93*	probably null	Het
Lig1	C	T	7: 13,026,079 (GRCm39)	A278V	probably benign	Het
Lipn	T	A	19: 34,049,158 (GRCm39)	I108K	probably benign	Het
Lsamp	A	G	16: 41,971,592 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,129,743 (GRCm39)		probably benign	Het
Mdm4	A	T	1: 132,919,558 (GRCm39)	C436S	probably damaging	Het
Mdm4	A	G	1: 132,940,430 (GRCm39)	L33P	probably damaging	Het
Meiob	T	C	17: 25,055,458 (GRCm39)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,360,777 (GRCm39)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,940,964 (GRCm39)	N301K	probably benign	Het
Muc6	C	T	7: 141,230,500 (GRCm39)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,437,588 (GRCm39)	Y2091*	probably null	Het
Mylk	G	A	16: 34,694,409 (GRCm39)	R156H	probably benign	Het
Myo15a	G	T	11: 60,370,233 (GRCm39)	D998Y	probably benign	Het
Neb	A	T	2: 52,086,369 (GRCm39)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,743,370 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm39)	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324 (GRCm39)	K619R	probably benign	Het
Nrg1	T	C	8: 32,327,695 (GRCm39)		probably benign	Het
Odr4	T	A	1: 150,262,142 (GRCm39)	E99D	probably benign	Het
Or4f59	A	T	2: 111,872,560 (GRCm39)	D272E	probably benign	Het
Or5b122	T	C	19: 13,563,577 (GRCm39)	V260A	probably benign	Het
Or5m8	A	T	2: 85,823,040 (GRCm39)	N293I	probably damaging	Het
Or8g24	T	A	9: 38,989,525 (GRCm39)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,353,204 (GRCm39)		probably benign	Het
Pde2a	A	G	7: 101,133,750 (GRCm39)	E103G	probably benign	Het
Pds5a	A	T	5: 65,792,645 (GRCm39)		probably benign	Het
Pip4k2c	A	G	10: 127,047,262 (GRCm39)	V40A	unknown	Het
Pitrm1	T	C	13: 6,602,780 (GRCm39)		probably benign	Het
Plk4	A	G	3: 40,756,282 (GRCm39)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 21,171,593 (GRCm39)		probably benign	Het
Ppp4r3b	T	A	11: 29,159,426 (GRCm39)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,368,177 (GRCm39)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,498,295 (GRCm39)		probably null	Het
Prx	T	A	7: 27,217,432 (GRCm39)	C644*	probably null	Het
Ptpru	A	G	4: 131,535,838 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,619,696 (GRCm39)	D738E	probably damaging	Het
Recql5	A	T	11: 115,788,060 (GRCm39)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,663,088 (GRCm39)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,777,332 (GRCm39)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,441,735 (GRCm39)	Y222*	probably null	Het
Shld2	A	T	14: 33,990,448 (GRCm39)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,483,347 (GRCm39)	G584V	probably damaging	Het
Slc35b3	T	A	13: 39,121,307 (GRCm39)	Y311F	probably benign	Het
Slc44a5	A	G	3: 153,963,357 (GRCm39)		probably null	Het
Slc6a9	A	G	4: 117,722,003 (GRCm39)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,364,728 (GRCm39)		probably null	Het
Spast	A	G	17: 74,688,963 (GRCm39)		probably null	Het
Spink5	A	T	18: 44,116,630 (GRCm39)	E208V	probably benign	Het
Stag1	T	C	9: 100,770,506 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Sult3a2	A	T	10: 33,653,188 (GRCm39)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,290,636 (GRCm39)	D162G	probably damaging	Het
Themis	A	C	10: 28,544,744 (GRCm39)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Trim35	T	A	14: 66,546,248 (GRCm39)	S338R	probably benign	Het
Trim42	C	A	9: 97,245,673 (GRCm39)	V376F	probably benign	Het
Tshr	A	T	12: 91,504,871 (GRCm39)	K11M	probably damaging	Het
Vps8	A	G	16: 21,278,570 (GRCm39)		probably benign	Het
Wdr11	T	C	7: 129,208,831 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,008,859 (GRCm39)		probably benign	Het
Wdtc1	A	G	4: 133,024,857 (GRCm39)	Y447H	probably damaging	Het
Zfp687	C	T	3: 94,915,784 (GRCm39)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,840,446 (GRCm39)	V135E	probably benign	Het
Zranb2	T	C	3: 157,247,502 (GRCm39)		probably benign	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
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
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

Posted On

2014-01-15