Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83804962-83947482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83847860 bp (GRCm39)

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]

AlphaFold

Q3U3D7

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: 121,764,146 (GRCm39)	Y928N	probably benign	Het
Amz2	T	C	11: 109,324,755 (GRCm39)	F213S	probably damaging	Het
Cage1	T	A	13: 38,199,682 (GRCm39)	S732C	probably damaging	Het
Ccnf	C	A	17: 24,459,767 (GRCm39)	D229Y	possibly damaging	Het
Cdon	G	T	9: 35,368,762 (GRCm39)	C332F	probably damaging	Het
Clca3b	G	A	3: 144,531,077 (GRCm39)	R758C	possibly damaging	Het
Cyp2ab1	C	T	16: 20,131,082 (GRCm39)	R349H	probably benign	Het
Dock10	C	T	1: 80,483,459 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,078,550 (GRCm39)	Y225N	possibly damaging	Het
Ear2	G	A	14: 44,340,618 (GRCm39)	R92K	probably benign	Het
Eif3c	T	C	7: 126,163,927 (GRCm39)	S39G	probably damaging	Het
Eml3	A	G	19: 8,916,582 (GRCm39)	D701G	probably damaging	Het
Fat3	G	A	9: 16,288,506 (GRCm39)	T339I	probably damaging	Het
Fbn2	T	C	18: 58,186,840 (GRCm39)	D1687G	possibly damaging	Het
Fcnb	C	T	2: 27,969,633 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,706,937 (GRCm39)	E243D	possibly damaging	Het
Fscb	A	G	12: 64,519,558 (GRCm39)	V636A	unknown	Het
Gm6124	A	G	7: 38,869,299 (GRCm39)		noncoding transcript	Het
Hectd4	T	A	5: 121,445,587 (GRCm39)		probably null	Het
Hrnr	A	T	3: 93,239,944 (GRCm39)	H3394L	unknown	Het
Hs1bp3	A	G	12: 8,386,275 (GRCm39)	R226G	probably benign	Het
Ifngr2	T	C	16: 91,351,947 (GRCm39)	V61A	probably benign	Het
Irag2	G	A	6: 145,117,392 (GRCm39)	M376I	probably benign	Het
Kcnk2	T	C	1: 189,009,918 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Mgam	T	A	6: 40,652,257 (GRCm39)	N810K	possibly damaging	Het
Mis18a	A	G	16: 90,518,522 (GRCm39)		probably null	Het
Nsmce3	A	G	7: 64,521,936 (GRCm39)	V244A	possibly damaging	Het
Or10ag59	T	C	2: 87,406,367 (GRCm39)	I313T	probably benign	Het
Plxna4	A	T	6: 32,214,711 (GRCm39)	V590D	probably damaging	Het
Prkab1	A	T	5: 116,162,219 (GRCm39)	D30E	probably benign	Het
Rasgrp3	A	T	17: 75,810,142 (GRCm39)	N281Y	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Septin2	T	A	1: 93,426,757 (GRCm39)		probably null	Het
Slc26a6	T	G	9: 108,739,282 (GRCm39)	V609G	possibly damaging	Het
Spta1	T	A	1: 174,068,662 (GRCm39)	M2154K	probably damaging	Het
Stoml2	T	G	4: 43,030,008 (GRCm39)		probably benign	Het
Sult6b1	A	C	17: 79,202,059 (GRCm39)	S148A	probably damaging	Het
Tmem221	T	A	8: 72,007,788 (GRCm39)		probably null	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Trpm8	T	C	1: 88,255,902 (GRCm39)	Y186H	probably benign	Het
Trpv1	T	C	11: 73,131,407 (GRCm39)	I7T	probably damaging	Het
Ttc34	T	C	4: 154,949,929 (GRCm39)	S961P	probably benign	Het
Ubr1	T	C	2: 120,734,486 (GRCm39)	D1138G	probably benign	Het
Ubr7	C	T	12: 102,732,571 (GRCm39)	R188C	probably damaging	Het
Uspl1	C	T	5: 149,130,770 (GRCm39)	P118S	probably benign	Het
Vdr	C	A	15: 97,767,647 (GRCm39)	E114D	possibly damaging	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zswim4	T	A	8: 84,943,871 (GRCm39)		probably null	Het

Other mutations in Tmem131l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Tmem131l	APN	3	83,849,807 (GRCm39)	missense	probably damaging	0.99
IGL00777:Tmem131l	APN	3	83,806,597 (GRCm39)	missense	probably damaging	1.00
IGL01400:Tmem131l	APN	3	83,829,429 (GRCm39)	missense	probably damaging	0.99
IGL01642:Tmem131l	APN	3	83,845,357 (GRCm39)	missense	possibly damaging	0.63
IGL01796:Tmem131l	APN	3	83,845,362 (GRCm39)	nonsense	probably null
IGL02055:Tmem131l	APN	3	83,817,673 (GRCm39)	splice site	probably null
IGL02269:Tmem131l	APN	3	83,845,357 (GRCm39)	missense	possibly damaging	0.63
IGL02806:Tmem131l	APN	3	83,836,123 (GRCm39)	splice site	probably benign
IGL03308:Tmem131l	APN	3	83,848,209 (GRCm39)	missense	probably benign	0.00
IGL03345:Tmem131l	APN	3	83,868,896 (GRCm39)	missense	probably damaging	1.00
R0106:Tmem131l	UTSW	3	83,842,122 (GRCm39)	splice site	probably benign
R0112:Tmem131l	UTSW	3	83,847,894 (GRCm39)	nonsense	probably null
R0212:Tmem131l	UTSW	3	83,820,575 (GRCm39)	missense	probably benign	0.19
R0328:Tmem131l	UTSW	3	83,829,238 (GRCm39)	splice site	probably benign
R0412:Tmem131l	UTSW	3	83,938,955 (GRCm39)	missense	probably damaging	1.00
R0544:Tmem131l	UTSW	3	83,805,853 (GRCm39)	missense	probably damaging	1.00
R0676:Tmem131l	UTSW	3	83,842,122 (GRCm39)	splice site	probably benign
R0815:Tmem131l	UTSW	3	83,847,879 (GRCm39)	missense	probably benign	0.01
R0826:Tmem131l	UTSW	3	83,805,724 (GRCm39)	missense	probably damaging	1.00
R1432:Tmem131l	UTSW	3	83,836,021 (GRCm39)	missense	probably damaging	1.00
R1582:Tmem131l	UTSW	3	83,839,090 (GRCm39)	missense	probably damaging	0.99
R1591:Tmem131l	UTSW	3	83,848,196 (GRCm39)	critical splice donor site	probably null
R1804:Tmem131l	UTSW	3	83,817,786 (GRCm39)	missense	possibly damaging	0.72
R1875:Tmem131l	UTSW	3	83,812,383 (GRCm39)	nonsense	probably null
R1955:Tmem131l	UTSW	3	83,868,851 (GRCm39)	missense	probably damaging	1.00
R2049:Tmem131l	UTSW	3	83,850,095 (GRCm39)	missense	probably damaging	1.00
R2125:Tmem131l	UTSW	3	83,850,058 (GRCm39)	critical splice donor site	probably null
R2173:Tmem131l	UTSW	3	83,833,452 (GRCm39)	missense	probably damaging	1.00
R2321:Tmem131l	UTSW	3	83,843,330 (GRCm39)	missense	probably damaging	0.98
R2407:Tmem131l	UTSW	3	83,829,355 (GRCm39)	missense	probably benign	0.25
R2917:Tmem131l	UTSW	3	83,844,887 (GRCm39)	nonsense	probably null
R3082:Tmem131l	UTSW	3	83,816,457 (GRCm39)	critical splice donor site	probably null
R3086:Tmem131l	UTSW	3	83,839,046 (GRCm39)	missense	probably benign	0.00
R3773:Tmem131l	UTSW	3	83,805,893 (GRCm39)	missense	probably damaging	1.00
R3921:Tmem131l	UTSW	3	83,847,908 (GRCm39)	missense	possibly damaging	0.68
R3953:Tmem131l	UTSW	3	83,817,726 (GRCm39)	missense	probably damaging	1.00
R3954:Tmem131l	UTSW	3	83,817,726 (GRCm39)	missense	probably damaging	1.00
R3956:Tmem131l	UTSW	3	83,817,726 (GRCm39)	missense	probably damaging	1.00
R4118:Tmem131l	UTSW	3	83,868,074 (GRCm39)	missense	probably benign	0.00
R4700:Tmem131l	UTSW	3	83,806,519 (GRCm39)	missense	probably benign
R4862:Tmem131l	UTSW	3	83,805,517 (GRCm39)	splice site	probably benign
R4941:Tmem131l	UTSW	3	83,806,546 (GRCm39)	missense	probably benign	0.03
R5101:Tmem131l	UTSW	3	83,844,811 (GRCm39)	missense	probably damaging	0.96
R5290:Tmem131l	UTSW	3	83,806,572 (GRCm39)	missense	probably benign	0.30
R5501:Tmem131l	UTSW	3	83,833,435 (GRCm39)	missense	probably damaging	1.00
R5813:Tmem131l	UTSW	3	83,847,879 (GRCm39)	missense	probably benign	0.01
R5973:Tmem131l	UTSW	3	83,829,553 (GRCm39)	missense	possibly damaging	0.95
R6119:Tmem131l	UTSW	3	83,805,689 (GRCm39)	missense	probably damaging	1.00
R6241:Tmem131l	UTSW	3	83,829,471 (GRCm39)	missense	probably benign	0.06
R6278:Tmem131l	UTSW	3	83,849,798 (GRCm39)	missense	possibly damaging	0.93
R6490:Tmem131l	UTSW	3	83,820,587 (GRCm39)	missense	possibly damaging	0.67
R6502:Tmem131l	UTSW	3	83,829,715 (GRCm39)	missense	probably damaging	1.00
R6503:Tmem131l	UTSW	3	83,848,251 (GRCm39)	missense	probably benign	0.26
R6868:Tmem131l	UTSW	3	83,868,938 (GRCm39)	missense	probably damaging	0.99
R7104:Tmem131l	UTSW	3	83,826,766 (GRCm39)	missense	possibly damaging	0.68
R7736:Tmem131l	UTSW	3	83,847,875 (GRCm39)	missense	probably damaging	0.97
R7885:Tmem131l	UTSW	3	83,817,724 (GRCm39)	missense	possibly damaging	0.89
R8085:Tmem131l	UTSW	3	83,834,438 (GRCm39)	missense	possibly damaging	0.81
R8164:Tmem131l	UTSW	3	83,833,495 (GRCm39)	nonsense	probably null
R8478:Tmem131l	UTSW	3	83,805,769 (GRCm39)	missense	probably damaging	0.99
R8677:Tmem131l	UTSW	3	83,836,009 (GRCm39)	missense	probably damaging	1.00
R8942:Tmem131l	UTSW	3	83,805,793 (GRCm39)	missense	possibly damaging	0.66
R8943:Tmem131l	UTSW	3	83,831,479 (GRCm39)	missense	probably damaging	1.00
R8973:Tmem131l	UTSW	3	83,836,039 (GRCm39)	missense	probably damaging	1.00
R9068:Tmem131l	UTSW	3	83,817,775 (GRCm39)	missense	probably benign	0.05
R9096:Tmem131l	UTSW	3	83,850,122 (GRCm39)	missense	probably damaging	1.00
R9097:Tmem131l	UTSW	3	83,850,122 (GRCm39)	missense	probably damaging	1.00
R9143:Tmem131l	UTSW	3	83,842,220 (GRCm39)	missense	probably benign	0.14
R9273:Tmem131l	UTSW	3	83,848,244 (GRCm39)	missense	probably damaging	1.00
R9325:Tmem131l	UTSW	3	83,817,768 (GRCm39)	missense	probably benign	0.00
R9400:Tmem131l	UTSW	3	83,830,293 (GRCm39)	missense	possibly damaging	0.68
R9433:Tmem131l	UTSW	3	83,845,459 (GRCm39)	missense	probably benign	0.14
R9574:Tmem131l	UTSW	3	83,868,911 (GRCm39)	missense	probably damaging	1.00
R9647:Tmem131l	UTSW	3	83,836,018 (GRCm39)	missense	probably damaging	1.00
R9750:Tmem131l	UTSW	3	83,831,358 (GRCm39)	missense	probably damaging	1.00
R9796:Tmem131l	UTSW	3	83,829,402 (GRCm39)	missense	probably damaging	0.99
Z1177:Tmem131l	UTSW	3	83,947,400 (GRCm39)	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