Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Tmem131l'

355893

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

041948-MU

Accession Numbers

Essential gene?

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

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83804962-83947482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83806519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1433 (A1433T)

Ref Sequence

ENSEMBL: ENSMUSP00000141607 (fasta)

Gene Model

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

AlphaFold

Q3U3D7

Predicted Effect

probably benign
Transcript: ENSMUST00000052342
AA Change: A1434T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: A1434T

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: A1496T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: A1496T

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 benign
Transcript: ENSMUST00000192095
AA Change: A1433T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: A1433T

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

0.0596

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,742,795 (GRCm39)		probably benign	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abca14	T	A	7: 119,911,928 (GRCm39)		probably null	Het
Abca8a	A	C	11: 109,961,308 (GRCm39)	V538G	probably damaging	Het
Acy1	C	T	9: 106,310,782 (GRCm39)	G329R	probably benign	Het
Adamts17	T	C	7: 66,691,636 (GRCm39)	C607R	probably damaging	Het
Adamts20	A	T	15: 94,292,503 (GRCm39)	C202*	probably null	Het
Adcy5	A	G	16: 35,099,586 (GRCm39)	N712S	possibly damaging	Het
Ahnak	A	G	19: 8,982,045 (GRCm39)	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127 (GRCm39)	H578L	possibly damaging	Het
Appl1	C	A	14: 26,647,928 (GRCm39)	L626F	probably benign	Het
Arl1	A	G	10: 88,566,499 (GRCm39)		probably benign	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Carm1	A	G	9: 21,498,480 (GRCm39)	N466S	probably benign	Het
Cbl	A	G	9: 44,084,677 (GRCm39)	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,839,027 (GRCm39)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc7	T	C	5: 107,121,707 (GRCm39)	F207L	probably benign	Het
Celsr2	T	C	3: 108,304,547 (GRCm39)	R2271G	probably benign	Het
Cep162	T	C	9: 87,088,915 (GRCm39)	Q989R	probably damaging	Het
Cep89	A	G	7: 35,137,862 (GRCm39)	T749A	probably benign	Het
Clcn5	T	C	X: 7,032,591 (GRCm39)		probably null	Het
Clu	A	T	14: 66,217,313 (GRCm39)	Y382F	probably benign	Het
Cnih4	A	G	1: 180,993,808 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,126,509 (GRCm39)	L1340P	probably damaging	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,520,405 (GRCm39)	E484G	probably benign	Het
Dsg4	G	T	18: 20,589,965 (GRCm39)	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,704,191 (GRCm39)	D21G	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,935,560 (GRCm39)		probably null	Het
F10	G	T	8: 13,089,621 (GRCm39)	V67F	possibly damaging	Het
Fat3	A	G	9: 15,942,469 (GRCm39)	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Flt4	C	A	11: 49,517,271 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,990,312 (GRCm39)	T1128I	unknown	Het
Fos	T	C	12: 85,522,936 (GRCm39)	S283P	probably benign	Het
Fryl	T	C	5: 73,222,881 (GRCm39)	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,817,373 (GRCm39)	Q4369K	probably benign	Het
Gad2	A	T	2: 22,563,982 (GRCm39)	H395L	probably damaging	Het
Grm2	T	A	9: 106,531,130 (GRCm39)	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,227,751 (GRCm39)	I1974N	probably damaging	Het
Il23r	T	C	6: 67,450,834 (GRCm39)	N215S	probably damaging	Het
Jph1	T	A	1: 17,161,928 (GRCm39)	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,127,908 (GRCm39)	G83R	probably damaging	Het
Map2	A	G	1: 66,449,796 (GRCm39)	E173G	probably damaging	Het
Med29	T	A	7: 28,086,352 (GRCm39)	D152V	possibly damaging	Het
Megf8	A	G	7: 25,062,940 (GRCm39)	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,025,978 (GRCm39)		probably benign	Het
Myh7	A	G	14: 55,225,778 (GRCm39)	I521T	possibly damaging	Het
Mylk	G	T	16: 34,742,805 (GRCm39)	V1106L	probably benign	Het
Myo15b	A	T	11: 115,752,761 (GRCm39)	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,466,785 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,359,922 (GRCm39)	V438A	possibly damaging	Het
Nav3	A	G	10: 109,600,796 (GRCm39)	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841 (GRCm38)	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809 (GRCm38)	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944 (GRCm39)	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,480,085 (GRCm39)	V487E	probably damaging	Het
Oc90	T	A	15: 65,753,354 (GRCm39)	R322W	possibly damaging	Het
Or1q1	C	A	2: 36,887,515 (GRCm39)	A231D	probably benign	Het
Or4f60	A	G	2: 111,902,097 (GRCm39)	V277A	possibly damaging	Het
Or52e4	A	T	7: 104,705,483 (GRCm39)	H10L	possibly damaging	Het
Or8b4	A	G	9: 37,830,217 (GRCm39)	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,662,160 (GRCm39)	H231R	probably damaging	Het
Pate6	A	T	9: 35,701,021 (GRCm39)	C22S	probably damaging	Het
Pdzph1	T	C	17: 59,281,541 (GRCm39)	H247R	probably damaging	Het
Pidd1	T	C	7: 141,022,162 (GRCm39)	N209S	probably damaging	Het
Pknox1	C	T	17: 31,822,286 (GRCm39)	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,935,576 (GRCm39)	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,519,976 (GRCm39)	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,631,224 (GRCm39)	D21G	possibly damaging	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,318,908 (GRCm39)		noncoding transcript	Het
Sdc1	A	G	12: 8,840,541 (GRCm39)	E106G	possibly damaging	Het
Slc10a5	T	G	3: 10,400,360 (GRCm39)	Q100P	probably damaging	Het
Slc10a5	C	A	3: 10,400,359 (GRCm39)	Q100H	probably damaging	Het
Slc5a9	A	T	4: 111,748,134 (GRCm39)	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,012,475 (GRCm39)	V197A	probably benign	Het
Spire1	T	C	18: 67,645,935 (GRCm39)	M244V	probably benign	Het
St3gal3	C	T	4: 117,817,232 (GRCm39)	V141I	probably benign	Het
St6galnac4	G	T	2: 32,477,172 (GRCm39)		probably benign	Het
Svep1	T	C	4: 58,097,323 (GRCm39)	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,100,745 (GRCm39)	C78R	probably damaging	Het
Tcstv5	T	C	13: 120,411,378 (GRCm39)	Y76C	probably benign	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869 (GRCm39)	Y189F	possibly damaging	Het
Tnfrsf8	T	C	4: 145,029,692 (GRCm39)	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,030,245 (GRCm39)	R184L	probably damaging	Het
Trpv1	A	T	11: 73,142,110 (GRCm39)	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,755,533 (GRCm39)	S132T	probably benign	Het
Ttc28	T	C	5: 111,424,909 (GRCm39)	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,240,100 (GRCm39)		probably null	Het
Tubal3	T	A	13: 3,983,514 (GRCm39)	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,240,301 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,903,190 (GRCm39)	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,149,586 (GRCm39)	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,149,587 (GRCm39)	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,694,942 (GRCm39)	G474E	probably damaging	Het
Vps26b	T	C	9: 26,926,511 (GRCm39)	K163E	probably damaging	Het
Zfp142	A	G	1: 74,609,431 (GRCm39)	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,603,844 (GRCm39)	E52K	possibly damaging	Het
Zfp423	T	A	8: 88,508,338 (GRCm39)		probably null	Het
Zfp493	T	C	13: 67,934,736 (GRCm39)	F230L	probably damaging	Het
Zfp760	T	C	17: 21,941,388 (GRCm39)	C188R	probably benign	Het
Zfyve28	G	T	5: 34,375,189 (GRCm39)	T275K	probably damaging	Het
Znhit3	T	C	11: 84,807,155 (GRCm39)	N5D	probably benign	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
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'- TGACACAGACTTCCTGCCTG -3'
(R):5'- CGCTCTGTCTTAGCATGCAG -3'

Sequencing Primer
(F):5'- TGTCTCCACATTACAGCCTTCAGAAG -3'
(R):5'- GCAGATTGCACTCAGGGTTAG -3'

Posted On

2015-10-21