Mutagenetix > Incidental Mutation

Incidental Mutation 'R3921:Tmem131l'

315730

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

040818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R3921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83804962-83947482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83847908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 319 (I319T)

Ref Sequence

ENSEMBL: ENSMUSP00000141607 (fasta)

Gene Model

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

AlphaFold

Q3U3D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052342
AA Change: I319T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: I319T

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

possibly damaging
Transcript: ENSMUST00000191758
AA Change: I319T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: I319T

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

possibly damaging
Transcript: ENSMUST00000192095
AA Change: I319T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: I319T

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

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,498 (GRCm39)	L317Q	probably damaging	Het
Aebp2	C	T	6: 140,579,461 (GRCm39)	R11C	probably damaging	Het
Anxa8	T	C	14: 33,816,403 (GRCm39)	F201L	probably damaging	Het
Armh4	A	G	14: 50,011,659 (GRCm39)	F16S	probably benign	Het
Bcl7a	A	G	5: 123,509,136 (GRCm39)	N206S	probably benign	Het
Birc6	A	G	17: 74,934,014 (GRCm39)	N2542D	probably damaging	Het
Cubn	A	G	2: 13,331,488 (GRCm39)	Y2562H	probably damaging	Het
Dnah12	C	G	14: 26,493,008 (GRCm39)	D1256E	probably damaging	Het
Dnajb14	A	T	3: 137,610,613 (GRCm39)	R280S	probably damaging	Het
Dop1a	A	T	9: 86,402,324 (GRCm39)	I1173F	probably benign	Het
Fam228a	T	C	12: 4,781,506 (GRCm39)	T118A	probably benign	Het
Gata2	TGCCATGGGCTAGGCAAGCC	TGCC	6: 88,182,464 (GRCm39)		probably null	Het
Hif3a	T	C	7: 16,771,097 (GRCm39)	D618G	possibly damaging	Het
Ighv1-43	C	A	12: 114,909,772 (GRCm39)	G50V	probably benign	Het
Lrrc37a	G	T	11: 103,392,296 (GRCm39)	T1043N	probably benign	Het
Masp2	T	A	4: 148,690,188 (GRCm39)	D232E	possibly damaging	Het
Ms4a4a	A	C	19: 11,356,172 (GRCm39)	Q19P	probably benign	Het
Nckipsd	A	G	9: 108,691,275 (GRCm39)	E399G	possibly damaging	Het
Nnt	T	A	13: 119,503,030 (GRCm39)	T572S	probably damaging	Het
Olig3	A	G	10: 19,232,423 (GRCm39)	D16G	probably damaging	Het
Or4a74	C	T	2: 89,439,853 (GRCm39)	V198I	probably benign	Het
Or5p57	T	A	7: 107,665,108 (GRCm39)	D299V	possibly damaging	Het
Polr2b	T	C	5: 77,474,500 (GRCm39)	Y446H	probably damaging	Het
Prtg	T	C	9: 72,755,629 (GRCm39)	V277A	probably damaging	Het
Rnf31	T	C	14: 55,838,599 (GRCm39)	Y857H	probably damaging	Het
Serac1	T	C	17: 6,117,067 (GRCm39)	D163G	probably damaging	Het
Slc22a22	C	A	15: 57,119,940 (GRCm39)	V197F	probably benign	Het
Slc2a10	C	T	2: 165,357,521 (GRCm39)	P394S	probably benign	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
St7	A	G	6: 17,846,244 (GRCm39)	N120D	probably benign	Het
Sult2a6	C	T	7: 13,988,668 (GRCm39)	V31M	possibly damaging	Het
Taf3	T	C	2: 10,053,109 (GRCm39)	T35A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	T	TTGGATG	15: 10,537,649 (GRCm39)		probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Vmn2r9	T	G	5: 108,996,921 (GRCm39)	Y116S	probably benign	Het
Vstm2l	A	G	2: 157,777,283 (GRCm39)	T54A	probably benign	Het
Xrn1	T	A	9: 95,851,337 (GRCm39)	M153K	probably benign	Het
Zfp106	G	A	2: 120,364,097 (GRCm39)	P770L	probably damaging	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
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
R5845:Tmem131l	UTSW	3	83,847,860 (GRCm39)	missense	probably damaging	0.99
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'- GCTTTGGTTTACAGGAACAAAACC -3'
(R):5'- ACTGTCCCTTGATTGAGCACC -3'

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

Posted On

2015-05-15