Mutagenetix > Incidental Mutation

Incidental Mutation 'R3954:Tmem131l'

308087

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

040831-MU

Accession Numbers

Essential gene?

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

Stock #

R3954 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

83804962-83947482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83817726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1257 (C1257F)

Ref Sequence

ENSEMBL: ENSMUSP00000141607 (fasta)

Gene Model

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

AlphaFold

Q3U3D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052342
AA Change: C1257F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: C1257F

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 benign
Transcript: ENSMUST00000191758
AA Change: C1258F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: C1258F

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: C1257F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: C1257F

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: ENSMUST00000194993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199411

Meta Mutation Damage Score

0.1453

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Aagab	A	G	9: 63,526,442 (GRCm39)	E155G	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Ankle2	A	G	5: 110,399,541 (GRCm39)	T633A	probably benign	Het
Arhgef19	A	G	4: 140,983,645 (GRCm39)	Y726C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
B3galnt2	A	G	13: 14,141,039 (GRCm39)	Q87R	probably benign	Het
Carmil1	A	G	13: 24,197,390 (GRCm39)	S1349P	probably benign	Het
Cfap52	C	A	11: 67,821,691 (GRCm39)	V446L	probably benign	Het
Cgnl1	T	C	9: 71,631,945 (GRCm39)	N469D	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dlg1	T	C	16: 31,676,826 (GRCm39)	Y792H	probably damaging	Het
Dusp13b	T	A	14: 21,790,175 (GRCm39)	D57V	probably damaging	Het
Galnt6	A	G	15: 100,595,049 (GRCm39)	V484A	possibly damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igkv4-79	A	G	6: 69,020,229 (GRCm39)	S29P	possibly damaging	Het
Lamp5	G	A	2: 135,902,928 (GRCm39)	D216N	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Ncam2	G	A	16: 81,386,612 (GRCm39)	V664M	probably damaging	Het
Ndst4	T	C	3: 125,231,554 (GRCm39)	M41T	probably benign	Het
Nkx6-3	G	T	8: 23,643,742 (GRCm39)	A48S	possibly damaging	Het
Ntng2	A	G	2: 29,097,547 (GRCm39)	C305R	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Odad1	A	G	7: 45,591,100 (GRCm39)	K192E	probably damaging	Het
Omd	A	T	13: 49,743,213 (GRCm39)	I88F	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Pi4k2a	G	A	19: 42,104,338 (GRCm39)	A367T	probably damaging	Het
Pramel30	A	C	4: 144,058,238 (GRCm39)	M282L	probably benign	Het
Prph2	T	C	17: 47,221,644 (GRCm39)	F8L	probably benign	Het
Qng1	A	G	13: 58,532,203 (GRCm39)	S118P	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Vmn1r124	A	G	7: 20,994,448 (GRCm39)	V32A	possibly damaging	Het
Zc3h13	T	A	14: 75,567,178 (GRCm39)	S921T	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
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
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'- AGGGCATGTGCTTTCTGATC -3'
(R):5'- CATCTTTTAGGGACTTGGGGCC -3'

Sequencing Primer
(F):5'- GGGCATGTGCTTTCTGATCTAACC -3'
(R):5'- CTCCCACAGGACTGAGAGAG -3'

Posted On

2015-04-17