Mutagenetix > Incidental Mutations

Incidental Mutation 'R5845:Tmem131l'

453555

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

044063-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R5845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83897655-84040175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83940553 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 335 (V335A)

Ref Sequence

ENSEMBL: ENSMUSP00000049808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052342] [ENSMUST00000191758] [ENSMUST00000192095]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052342
AA Change: V335A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: V335A

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:TMEM131_like	91	174	5.8e-20	PFAM
low complexity region	464	477	N/A	INTRINSIC
low complexity region	612	630	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
low complexity region	990	997	N/A	INTRINSIC
low complexity region	1221	1239	N/A	INTRINSIC
low complexity region	1291	1324	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191758
AA Change: V335A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: V335A

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:DUF3651	155	228	9.2e-10	PFAM
Pfam:DUF3651	285	362	1.5e-9	PFAM
low complexity region	464	477	N/A	INTRINSIC
low complexity region	612	630	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
low complexity region	990	997	N/A	INTRINSIC
low complexity region	1221	1239	N/A	INTRINSIC
low complexity region	1291	1324	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000192095
AA Change: V335A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: V335A

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:DUF3651	155	228	8.8e-10	PFAM
Pfam:DUF3651	285	362	1.4e-9	PFAM
low complexity region	464	477	N/A	INTRINSIC
low complexity region	612	630	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
low complexity region	989	996	N/A	INTRINSIC
low complexity region	1220	1238	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194522

Meta Mutation Damage Score

0.1687

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,626,083	Y928N	probably benign	Het
Als2cr12	T	A	1: 58,667,778	E243D	possibly damaging	Het
Amz2	T	C	11: 109,433,929	F213S	probably damaging	Het
Cage1	T	A	13: 38,015,706	S732C	probably damaging	Het
Ccnf	C	A	17: 24,240,793	D229Y	possibly damaging	Het
Cdon	G	T	9: 35,457,466	C332F	probably damaging	Het
Clca3b	G	A	3: 144,825,316	R758C	possibly damaging	Het
Cyp2ab1	C	T	16: 20,312,332	R349H	probably benign	Het
Dock10	C	T	1: 80,505,742		probably benign	Het
Dock5	A	T	14: 67,841,101	Y225N	possibly damaging	Het
Ear2	G	A	14: 44,103,161	R92K	probably benign	Het
Eif3c	T	C	7: 126,564,755	S39G	probably damaging	Het
Eml3	A	G	19: 8,939,218	D701G	probably damaging	Het
Fat3	G	A	9: 16,377,210	T339I	probably damaging	Het
Fbn2	T	C	18: 58,053,768	D1687G	possibly damaging	Het
Fcnb	C	T	2: 28,079,621		probably null	Het
Fscb	A	G	12: 64,472,784	V636A	unknown	Het
Gm6124	A	G	7: 39,219,875		noncoding transcript	Het
Hectd4	T	A	5: 121,307,524		probably null	Het
Hrnr	A	T	3: 93,332,637	H3394L	unknown	Het
Hs1bp3	A	G	12: 8,336,275	R226G	probably benign	Het
Ifngr2	T	C	16: 91,555,059	V61A	probably benign	Het
Kcnk2	T	C	1: 189,277,721		probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Lrmp	G	A	6: 145,171,666	M376I	probably benign	Het
Mgam	T	A	6: 40,675,323	N810K	possibly damaging	Het
Mis18a	A	G	16: 90,721,634		probably null	Het
Nsmce3	A	G	7: 64,872,188	V244A	possibly damaging	Het
Olfr1129	T	C	2: 87,576,023	I313T	probably benign	Het
Plxna4	A	T	6: 32,237,776	V590D	probably damaging	Het
Prkab1	A	T	5: 116,024,160	D30E	probably benign	Het
Rasgrp3	A	T	17: 75,503,147	N281Y	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sept2	T	A	1: 93,499,035		probably null	Het
Slc26a6	T	G	9: 108,862,083	V609G	possibly damaging	Het
Spta1	T	A	1: 174,241,096	M2154K	probably damaging	Het
Stoml2	T	G	4: 43,030,008		probably benign	Het
Sult6b1	A	C	17: 78,894,630	S148A	probably damaging	Het
Tmem221	T	A	8: 71,555,144		probably null	Het
Tmem88	C	G	11: 69,397,678	Q138H	probably benign	Het
Trpm8	T	C	1: 88,328,180	Y186H	probably benign	Het
Trpv1	T	C	11: 73,240,581	I7T	probably damaging	Het
Ttc34	T	C	4: 154,865,472	S961P	probably benign	Het
Ubr1	T	C	2: 120,904,005	D1138G	probably benign	Het
Ubr7	C	T	12: 102,766,312	R188C	probably damaging	Het
Uspl1	C	T	5: 149,193,960	P118S	probably benign	Het
Vdr	C	A	15: 97,869,766	E114D	possibly damaging	Het
Zfp853	C	T	5: 143,288,669	V399M	unknown	Het
Zswim4	T	A	8: 84,217,242		probably null	Het

Other mutations in Tmem131l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Tmem131l	APN	3	83942500	missense	probably damaging	0.99
IGL00777:Tmem131l	APN	3	83899290	missense	probably damaging	1.00
IGL01400:Tmem131l	APN	3	83922122	missense	probably damaging	0.99
IGL01642:Tmem131l	APN	3	83938050	missense	possibly damaging	0.63
IGL01796:Tmem131l	APN	3	83938055	nonsense	probably null
IGL02055:Tmem131l	APN	3	83910366	splice site	probably null
IGL02269:Tmem131l	APN	3	83938050	missense	possibly damaging	0.63
IGL02806:Tmem131l	APN	3	83928816	splice site	probably benign
IGL03308:Tmem131l	APN	3	83940902	missense	probably benign	0.00
IGL03345:Tmem131l	APN	3	83961589	missense	probably damaging	1.00
R0106:Tmem131l	UTSW	3	83934815	splice site	probably benign
R0112:Tmem131l	UTSW	3	83940587	nonsense	probably null
R0212:Tmem131l	UTSW	3	83913268	missense	probably benign	0.19
R0328:Tmem131l	UTSW	3	83921931	splice site	probably benign
R0412:Tmem131l	UTSW	3	84031648	missense	probably damaging	1.00
R0544:Tmem131l	UTSW	3	83898546	missense	probably damaging	1.00
R0676:Tmem131l	UTSW	3	83934815	splice site	probably benign
R0815:Tmem131l	UTSW	3	83940572	missense	probably benign	0.01
R0826:Tmem131l	UTSW	3	83898417	missense	probably damaging	1.00
R1432:Tmem131l	UTSW	3	83928714	missense	probably damaging	1.00
R1582:Tmem131l	UTSW	3	83931783	missense	probably damaging	0.99
R1591:Tmem131l	UTSW	3	83940889	critical splice donor site	probably null
R1804:Tmem131l	UTSW	3	83910479	missense	possibly damaging	0.72
R1875:Tmem131l	UTSW	3	83905076	nonsense	probably null
R1955:Tmem131l	UTSW	3	83961544	missense	probably damaging	1.00
R2049:Tmem131l	UTSW	3	83942788	missense	probably damaging	1.00
R2125:Tmem131l	UTSW	3	83942751	critical splice donor site	probably null
R2173:Tmem131l	UTSW	3	83926145	missense	probably damaging	1.00
R2321:Tmem131l	UTSW	3	83936023	missense	probably damaging	0.98
R2407:Tmem131l	UTSW	3	83922048	missense	probably benign	0.25
R2917:Tmem131l	UTSW	3	83937580	nonsense	probably null
R3082:Tmem131l	UTSW	3	83909150	critical splice donor site	probably null
R3086:Tmem131l	UTSW	3	83931739	missense	probably benign	0.00
R3773:Tmem131l	UTSW	3	83898586	missense	probably damaging	1.00
R3921:Tmem131l	UTSW	3	83940601	missense	possibly damaging	0.68
R3953:Tmem131l	UTSW	3	83910419	missense	probably damaging	1.00
R3954:Tmem131l	UTSW	3	83910419	missense	probably damaging	1.00
R3956:Tmem131l	UTSW	3	83910419	missense	probably damaging	1.00
R4118:Tmem131l	UTSW	3	83960767	missense	probably benign	0.00
R4700:Tmem131l	UTSW	3	83899212	missense	probably benign
R4862:Tmem131l	UTSW	3	83898210	splice site	probably benign
R4941:Tmem131l	UTSW	3	83899239	missense	probably benign	0.03
R5101:Tmem131l	UTSW	3	83937504	missense	probably damaging	0.96
R5290:Tmem131l	UTSW	3	83899265	missense	probably benign	0.30
R5501:Tmem131l	UTSW	3	83926128	missense	probably damaging	1.00
R5813:Tmem131l	UTSW	3	83940572	missense	probably benign	0.01
R5973:Tmem131l	UTSW	3	83922246	missense	possibly damaging	0.95
R6119:Tmem131l	UTSW	3	83898382	missense	probably damaging	1.00
R6241:Tmem131l	UTSW	3	83922164	missense	probably benign	0.06
R6278:Tmem131l	UTSW	3	83942491	missense	possibly damaging	0.93
R6490:Tmem131l	UTSW	3	83913280	missense	possibly damaging	0.67
R6502:Tmem131l	UTSW	3	83922408	missense	probably damaging	1.00
R6503:Tmem131l	UTSW	3	83940944	missense	probably benign	0.26
R6868:Tmem131l	UTSW	3	83961631	missense	probably damaging	0.99
R7104:Tmem131l	UTSW	3	83919459	missense	possibly damaging	0.68
R7736:Tmem131l	UTSW	3	83940568	missense	probably damaging	0.97
R7885:Tmem131l	UTSW	3	83910417	missense	possibly damaging	0.89
R8085:Tmem131l	UTSW	3	83927131	missense	possibly damaging	0.81
Z1177:Tmem131l	UTSW	3	84040093	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTGGTTTACAGGAACAAAACC -3'
(R):5'- TGTCCCTTGATTGAGCACCC -3'

Sequencing Primer
(F):5'- TGGTTTACAGGAACAAAACCTACTC -3'
(R):5'- AGCACCCTGTTTGTGTGAAGAC -3'

Posted On

2017-02-10