Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Tmem131l'

661432

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83897655-84040175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83928702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 700 (V700G)

Ref Sequence

ENSEMBL: ENSMUSP00000141438 (fasta)

Gene Model

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

AlphaFold

Q3U3D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052342
AA Change: V700G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: V700G

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: V700G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: V700G

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: V700G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: V700G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,595,471	D474G	probably benign	Het
1190007I07Rik	G	T	10: 82,620,216	T37K	possibly damaging	Het
2610507B11Rik	C	T	11: 78,284,156	R1706C	probably damaging	Het
Acd	A	C	8: 105,700,944	S25R	probably damaging	Het
Acly	A	T	11: 100,519,743	H136Q	probably damaging	Het
Adrm1	C	T	2: 180,172,039	T2M	probably benign	Het
Ankrd12	A	T	17: 66,024,214	L246M	probably damaging	Het
Cacnb3	T	C	15: 98,642,050	L258P	probably damaging	Het
Ccdc129	A	G	6: 55,872,594	H37R	probably benign	Het
Cd36	C	T	5: 17,820,495	V76M	probably damaging	Het
Cep120	A	G	18: 53,738,561	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,290,585		probably null	Het
Col17a1	T	C	19: 47,651,801	T1042A	probably benign	Het
Comp	A	T	8: 70,380,260	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272	L653P	probably benign	Het
Cx3cl1	G	T	8: 94,779,815	R149S	probably benign	Het
Dbndd2	T	A	2: 164,488,602	N58K	probably damaging	Het
Dclk1	A	G	3: 55,502,419	I595V	probably damaging	Het
Dhx15	T	C	5: 52,184,544	D144G	probably benign	Het
Dlat	T	C	9: 50,658,707	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,220,315	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,457,027	V778D	probably benign	Het
Grn	T	C	11: 102,433,567	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,110,414	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,724,785	I317V	probably benign	Het
Heca	T	C	10: 17,915,676	N211D	probably benign	Het
Htr1f	T	C	16: 64,926,051	T293A	possibly damaging	Het
Ifitm10	T	A	7: 142,356,012	I116F	probably benign	Het
Ivl	A	T	3: 92,572,679	D26E	probably benign	Het
Kcnma1	T	A	14: 23,386,350	E761V	probably benign	Het
Ltbp1	G	T	17: 75,348,758	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,923,809	F32L	probably benign	Het
Micu2	T	C	14: 57,923,963	R301G	possibly damaging	Het
Miip	C	T	4: 147,863,046	C219Y	probably damaging	Het
Mn1	T	A	5: 111,419,019	L285*	probably null	Het
Mthfd1l	T	A	10: 4,048,250	N664K	possibly damaging	Het
Mttp	A	T	3: 138,104,676	H659Q	probably benign	Het
Myadml2	G	A	11: 120,647,989	P7S	probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,072,645	T645I	probably damaging	Het
Notch1	C	T	2: 26,469,924	V1260I	probably damaging	Het
Numa1	T	C	7: 102,000,941	L1293P	probably damaging	Het
Olfr403	A	T	11: 74,195,589	I29F	probably benign	Het
Olfr684	A	G	7: 105,157,568	L38P	probably benign	Het
Pcdh12	G	T	18: 38,282,138	H645N	probably benign	Het
Pdcd1	A	T	1: 94,041,227	L122H	probably damaging	Het
Pknox2	G	A	9: 36,910,591	P246L	probably damaging	Het
Polr2a	A	T	11: 69,735,555	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,751,178	D226N	probably damaging	Het
Proser1	A	G	3: 53,477,701	T335A	probably benign	Het
Ptprc	A	G	1: 138,083,597	I598T	probably damaging	Het
Rasal3	T	C	17: 32,396,854	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,512,060	T415S	probably benign	Het
Rbm7	T	A	9: 48,489,973	R152*	probably null	Het
Sf3b2	C	T	19: 5,286,229	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,386,671	S214P	probably benign	Het
Spam1	A	G	6: 24,796,985	T312A	probably benign	Het
Ssh2	A	G	11: 77,455,193	T1335A	possibly damaging	Het
Tef	T	A	15: 81,814,968	L59Q	probably damaging	Het
Twsg1	A	G	17: 65,926,407	S183P	probably damaging	Het
Unc13c	T	C	9: 73,932,961	T203A	probably benign	Het
Vmn2r75	G	T	7: 86,165,202	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,516,634	N3073I	probably damaging	Het
Zfp114	A	G	7: 24,180,645	N140D	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGGGACTCTTCTGGGAATATATC -3'
(R):5'- TCTACCCTCCATTGGTGAGG -3'

Sequencing Primer
(F):5'- GGCTGAGTGAAATATGCTCCC -3'
(R):5'- TCCATTGGTGAGGATGGAGTGAAAC -3'

Posted On

2021-03-08