Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Tmem131l'

171456

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

039619-MU

Accession Numbers

Essential gene?

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

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83804962-83947482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83839090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 620 (Q620R)

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: Q620R

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

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: Q620R

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: Q620R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: Q620R

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: Q620R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: Q620R

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,330,926 (GRCm39)	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Ddx25	T	C	9: 35,457,272 (GRCm39)	T348A	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc15	A	T	2: 110,567,817 (GRCm39)	M321L	probably benign	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Relt	C	T	7: 100,500,560 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Thbs2	G	T	17: 14,891,550 (GRCm39)	P996T	probably damaging	Het
Ubap2l	A	G	3: 89,941,978 (GRCm39)	S203P	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly 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
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
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'- TACTTAGGCCGATGGGTTCCACTG -3'
(R):5'- AGTTCAAGAAGGAATGCCCAACTGC -3'

Sequencing Primer
(F):5'- ATGGGTTCCACTGTGCCAC -3'
(R):5'- tgacaagcatcttcgccc -3'

Posted On

2014-04-13