Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Tmem131l'

383061

Institutional Source

Beutler Lab

Gene Symbol

Tmem131l

Ensembl Gene

ENSMUSG00000033767

Gene Name

transmembrane 131 like

Synonyms

D930015E06Rik

MMRRC Submission

042539-MU

Accession Numbers

Essential gene?

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

Stock #

R4941 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

83804962-83947482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83806546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1487 (T1487A)

Ref Sequence

ENSEMBL: ENSMUSP00000141438 (fasta)

Gene Model

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

AlphaFold

Q3U3D7

Predicted Effect

probably benign
Transcript: ENSMUST00000052342
AA Change: T1425A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: T1425A

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: T1487A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: T1487A

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: T1424A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: T1424A

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

0.0631

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	A	15: 83,112,529 (GRCm39)	I85F	probably damaging	Het
Abcc6	T	A	7: 45,661,947 (GRCm39)	I435F	probably benign	Het
Adam3	T	C	8: 25,167,332 (GRCm39)		probably benign	Het
Adrb3	T	C	8: 27,717,450 (GRCm39)	Y333C	probably damaging	Het
Ago4	A	T	4: 126,419,847 (GRCm39)	D43E	probably benign	Het
Agt	T	A	8: 125,283,727 (GRCm39)	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,367,463 (GRCm39)	D230E	probably damaging	Het
Aplf	A	G	6: 87,645,405 (GRCm39)	I33T	probably damaging	Het
Aplf	A	T	6: 87,623,331 (GRCm39)	N249K	probably benign	Het
Arap2	A	G	5: 62,906,821 (GRCm39)	M66T	probably benign	Het
Atf4	T	C	15: 80,140,434 (GRCm39)		probably benign	Het
Bahcc1	A	C	11: 120,177,491 (GRCm39)	H2068P	probably benign	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Bltp1	A	C	3: 36,971,851 (GRCm39)	H528P	probably damaging	Het
Bltp1	G	A	3: 36,974,050 (GRCm39)	S600N	probably benign	Het
Catsper1	C	A	19: 5,391,466 (GRCm39)	A616D	possibly damaging	Het
Cdkn3	A	G	14: 47,007,320 (GRCm39)	D159G	possibly damaging	Het
Cep162	T	C	9: 87,108,022 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,721,414 (GRCm39)	I386L	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cmtm3	T	C	8: 105,070,460 (GRCm39)	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,102,925 (GRCm39)	L149R	probably benign	Het
Cope	T	C	8: 70,755,584 (GRCm39)		probably null	Het
Cpa6	T	A	1: 10,479,562 (GRCm39)	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Ddx55	T	A	5: 124,706,779 (GRCm39)	L592*	probably null	Het
Deup1	T	C	9: 15,499,323 (GRCm39)	M333V	probably benign	Het
Eif4a1	T	C	11: 69,558,640 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,897,876 (GRCm39)	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,090,280 (GRCm39)	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,297,301 (GRCm39)		probably benign	Het
Fam227a	C	A	15: 79,524,204 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,312 (GRCm39)	I3505V	probably benign	Het
Fat3	T	G	9: 16,286,448 (GRCm39)	E1025A	probably damaging	Het
Fat4	C	T	3: 39,011,601 (GRCm39)	R2234W	probably damaging	Het
Fer1l4	G	T	2: 155,887,009 (GRCm39)	F634L	probably damaging	Het
Fetub	G	A	16: 22,756,624 (GRCm39)	V162I	probably benign	Het
Fgd4	T	C	16: 16,302,402 (GRCm39)	Q51R	probably benign	Het
Fgfr2	T	C	7: 129,800,175 (GRCm39)	H140R	probably benign	Het
Flt3	T	A	5: 147,293,185 (GRCm39)		probably null	Het
Gabrb1	A	G	5: 72,294,121 (GRCm39)	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,432,691 (GRCm39)	I206V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Glp2r	T	C	11: 67,637,529 (GRCm39)		probably null	Het
Gm4956	T	A	1: 21,368,306 (GRCm39)		noncoding transcript	Het
Gtf2a1l	A	T	17: 89,022,350 (GRCm39)	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,526,379 (GRCm39)	W356R	probably damaging	Het
Idh2	A	T	7: 79,745,847 (GRCm39)	V335D	probably damaging	Het
Isyna1	T	C	8: 71,048,146 (GRCm39)	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,536,085 (GRCm39)	S320P	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,541,825 (GRCm39)	F524S	probably damaging	Het
Lap3	A	T	5: 45,663,539 (GRCm39)	M338L	probably benign	Het
Lins1	T	C	7: 66,359,198 (GRCm39)		probably benign	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc43	A	G	5: 123,639,126 (GRCm39)	D385G	probably benign	Het
Maf	T	C	8: 116,433,532 (GRCm39)	D24G	unknown	Het
Nell1	T	C	7: 49,712,386 (GRCm39)	S69P	probably benign	Het
Nkapd1	G	T	9: 50,518,809 (GRCm39)	Q268K	probably benign	Het
Or13p4	C	T	4: 118,547,089 (GRCm39)	V187I	possibly damaging	Het
Or2h1	C	T	17: 37,404,484 (GRCm39)	G94E	probably damaging	Het
Or2j6	T	A	7: 139,980,792 (GRCm39)	M56L	probably benign	Het
Or51af1	T	C	7: 103,141,458 (GRCm39)	D209G	probably damaging	Het
Or5an10	A	G	19: 12,276,260 (GRCm39)	S79P	possibly damaging	Het
Or8g54	T	C	9: 39,707,160 (GRCm39)	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Parp14	T	C	16: 35,666,403 (GRCm39)	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,545,887 (GRCm39)	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,489,059 (GRCm39)	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,795,659 (GRCm39)	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,871,185 (GRCm39)	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,108,325 (GRCm39)	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,140,013 (GRCm39)	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,887,276 (GRCm39)		probably null	Het
Pparg	T	A	6: 115,467,071 (GRCm39)	V478E	probably damaging	Het
Ppib	T	C	9: 65,967,672 (GRCm39)	V42A	probably benign	Het
Ppox	T	C	1: 171,105,166 (GRCm39)	M341V	probably damaging	Het
Proc	T	C	18: 32,258,166 (GRCm39)	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,369,763 (GRCm39)	P525L	probably damaging	Het
Rnf14	C	A	18: 38,441,435 (GRCm39)	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,511,231 (GRCm39)	P306L	probably damaging	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc26a5	A	G	5: 22,025,384 (GRCm39)	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467 (GRCm39)	Y438C	probably damaging	Het
Spire1	T	C	18: 67,652,384 (GRCm39)	E231G	possibly damaging	Het
Stab1	T	A	14: 30,873,528 (GRCm39)	I1014F	probably benign	Het
Steap2	T	C	5: 5,727,651 (GRCm39)	Y228C	probably damaging	Het
Tmem171	A	G	13: 98,828,803 (GRCm39)	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520 (GRCm39)	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,642,652 (GRCm39)	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,242,301 (GRCm39)	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,620,116 (GRCm39)	K617E	probably damaging	Het
Xrcc6	T	C	15: 81,924,013 (GRCm39)	L229P	probably damaging	Het
Yju2	A	G	17: 56,271,149 (GRCm39)	D97G	possibly damaging	Het
Zfp184	A	G	13: 22,133,891 (GRCm39)	D46G	probably damaging	Het
Zfp790	T	A	7: 29,528,916 (GRCm39)	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,263,407 (GRCm39)	N135I	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
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
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'- GCGGCCACTACTCTTGTATATG -3'
(R):5'- ATCCCCATGTAATGAGTGAGCAC -3'

Sequencing Primer
(F):5'- GTATATGAATCCCATCAGTCTGCCTG -3'
(R):5'- GGCGCTCTGTCTTAGCATGC -3'

Posted On

2016-04-27