Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Tmem131'

678860

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

068703-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36831270-36978714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36868658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 389 (I389N)

Ref Sequence

ENSEMBL: ENSMUSP00000027290 (fasta)

Gene Model

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

AlphaFold

O70472

Predicted Effect

probably damaging
Transcript: ENSMUST00000027290
AA Change: I389N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: I389N

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: I389N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: I389N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 43,903,751 (GRCm39)	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,715,558 (GRCm39)	V877I	probably damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Asxl3	T	A	18: 22,657,763 (GRCm39)	D1924E	probably benign	Het
Bmp4	T	A	14: 46,621,902 (GRCm39)	E214V	probably damaging	Het
Calhm5	T	C	10: 33,968,415 (GRCm39)	S213G	probably benign	Het
Carmil1	A	G	13: 24,325,709 (GRCm39)	L207P	probably damaging	Het
Cdh24	T	C	14: 54,876,612 (GRCm39)	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,874,184 (GRCm39)	W752L	probably benign	Het
Clec1b	T	C	6: 129,382,212 (GRCm39)	*230Q	probably null	Het
Ctbs	T	C	3: 146,169,724 (GRCm39)	V327A	probably benign	Het
Cyp2c40	A	T	19: 39,795,991 (GRCm39)	I129N	probably benign	Het
Dnajc10	T	A	2: 80,147,801 (GRCm39)	L21H	possibly damaging	Het
Dysf	A	G	6: 84,156,736 (GRCm39)	D1487G	probably benign	Het
Epb42	T	C	2: 120,849,987 (GRCm39)	Q674R	possibly damaging	Het
Foxb2	T	C	19: 16,850,958 (GRCm39)	Y16C	unknown	Het
Fto	T	C	8: 92,136,471 (GRCm39)		probably null	Het
Gcfc2	A	G	6: 81,918,347 (GRCm39)	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,077,312 (GRCm39)	S160P	probably benign	Het
Has2	C	T	15: 56,531,885 (GRCm39)	V277I	probably damaging	Het
Herc1	T	C	9: 66,318,456 (GRCm39)	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,277,203 (GRCm39)	E419K	probably benign	Het
Hsd17b11	T	C	5: 104,140,802 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Lactbl1	G	T	4: 136,360,243 (GRCm39)	A141S	probably benign	Het
Ncoa5	T	C	2: 164,854,927 (GRCm39)	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,871,067 (GRCm39)	I240V	probably benign	Het
Nim1k	T	A	13: 120,173,874 (GRCm39)	D340V	probably benign	Het
Oas2	T	C	5: 120,876,449 (GRCm39)	K498R	possibly damaging	Het
Or52e2	C	T	7: 102,804,411 (GRCm39)	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,160,957 (GRCm39)	S357P	probably damaging	Het
Pigk	G	A	3: 152,472,098 (GRCm39)	E384K	probably benign	Het
Ppp4r1	T	C	17: 66,136,376 (GRCm39)	V528A	probably damaging	Het
Rbm34	A	G	8: 127,679,908 (GRCm39)		probably benign	Het
Rnd1	A	G	15: 98,575,181 (GRCm39)	V17A	probably damaging	Het
Ros1	C	T	10: 51,977,805 (GRCm39)		probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Scin	T	C	12: 40,123,432 (GRCm39)	S484G	probably damaging	Het
Scn11a	C	T	9: 119,603,363 (GRCm39)	W1101*	probably null	Het
Scrn3	T	A	2: 73,148,636 (GRCm39)	V69D	probably damaging	Het
Serpina3j	A	G	12: 104,281,309 (GRCm39)	T161A	probably benign	Het
Sh3bp4	C	A	1: 89,080,064 (GRCm39)	A873D	probably damaging	Het
Tpp2	T	C	1: 44,016,415 (GRCm39)	L690P	probably damaging	Het
Trip13	T	C	13: 74,081,085 (GRCm39)	T94A	probably benign	Het
Vmn1r114	A	T	7: 20,545,171 (GRCm39)	L314*	probably null	Het
Vmn2r44	A	G	7: 8,370,650 (GRCm39)	Y799H	probably damaging	Het
Zfp574	T	C	7: 24,780,769 (GRCm39)	L597P	probably damaging	Het
Zfp944	A	T	17: 22,558,507 (GRCm39)	C247S	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
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
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
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'- ACCCTAACACATCTGCTTAGGTTTC -3'
(R):5'- CGCCTTACGTTTGTGTATGC -3'

Sequencing Primer
(F):5'- GCTTAGGTTTCCTGATTGTACATAC -3'
(R):5'- GCCTTACGTTTGTGTATGCTTTTC -3'

Posted On

2021-08-02