Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Tmem131l'

2468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

83897655-84040175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83942500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 260 (M260K)

Ref Sequence

ENSEMBL: ENSMUSP00000049808 (fasta)

Gene Model

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

AlphaFold

Q3U3D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052342
AA Change: M260K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: M260K

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: M260K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: M260K

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: M260K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: M260K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Tmem131l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5845:Tmem131l	UTSW	3	83940553	missense	probably damaging	0.99
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
R8164:Tmem131l	UTSW	3	83926188	nonsense	probably null
R8478:Tmem131l	UTSW	3	83898462	missense	probably damaging	0.99
R8677:Tmem131l	UTSW	3	83928702	missense	probably damaging	1.00
R8942:Tmem131l	UTSW	3	83898486	missense	possibly damaging	0.66
R8943:Tmem131l	UTSW	3	83924172	missense	probably damaging	1.00
R8973:Tmem131l	UTSW	3	83928732	missense	probably damaging	1.00
R9068:Tmem131l	UTSW	3	83910468	missense	probably benign	0.05
R9096:Tmem131l	UTSW	3	83942815	missense	probably damaging	1.00
R9097:Tmem131l	UTSW	3	83942815	missense	probably damaging	1.00
R9143:Tmem131l	UTSW	3	83934913	missense	probably benign	0.14
R9273:Tmem131l	UTSW	3	83940937	missense	probably damaging	1.00
R9325:Tmem131l	UTSW	3	83910461	missense	probably benign	0.00
R9400:Tmem131l	UTSW	3	83922986	missense	possibly damaging	0.68
R9433:Tmem131l	UTSW	3	83938152	missense	probably benign	0.14
R9574:Tmem131l	UTSW	3	83961604	missense	probably damaging	1.00
R9647:Tmem131l	UTSW	3	83928711	missense	probably damaging	1.00
R9750:Tmem131l	UTSW	3	83924051	missense	probably damaging	1.00
R9796:Tmem131l	UTSW	3	83922095	missense	probably damaging	0.99
Z1177:Tmem131l	UTSW	3	84040093	missense	probably damaging	1.00

Posted On

2011-12-09