Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Tmem130'

221223

Institutional Source

Beutler Lab

Gene Symbol

Tmem130

Ensembl Gene

ENSMUSG00000043388

Gene Name

transmembrane protein 130

Synonyms

MMRRC Submission

040038-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R2031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144672725-144698388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144689236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 135 (V135A)

Ref Sequence

ENSEMBL: ENSMUSP00000061100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061446]

AlphaFold

Q6NXM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061446
AA Change: V135A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061100
Gene: ENSMUSG00000043388
AA Change: V135A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PKD	140	226	6.04e-1	SMART
Blast:PKD	242	332	6e-22	BLAST
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197254

Meta Mutation Damage Score

0.2169

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401 (GRCm39)	S51G	probably benign	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Enpp6	C	A	8: 47,506,649 (GRCm39)	P151Q	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or51f1e	A	G	7: 102,747,371 (GRCm39)	Y141C	probably damaging	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Parvb	A	T	15: 84,167,036 (GRCm39)	Y117F	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Plxnc1	G	T	10: 94,779,529 (GRCm39)	D304E	probably benign	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,100,560 (GRCm39)	R317H	probably damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	possibly damaging	Het

Other mutations in Tmem130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Tmem130	APN	5	144,689,255 (GRCm39)	missense	probably damaging	0.99
IGL02808:Tmem130	APN	5	144,680,433 (GRCm39)	missense	probably damaging	1.00
R0599:Tmem130	UTSW	5	144,674,619 (GRCm39)	missense	probably damaging	1.00
R0714:Tmem130	UTSW	5	144,674,619 (GRCm39)	missense	probably damaging	1.00
R1807:Tmem130	UTSW	5	144,692,174 (GRCm39)	missense	probably benign	0.04
R1858:Tmem130	UTSW	5	144,689,093 (GRCm39)	splice site	probably null
R1914:Tmem130	UTSW	5	144,674,666 (GRCm39)	missense	probably damaging	1.00
R1915:Tmem130	UTSW	5	144,674,666 (GRCm39)	missense	probably damaging	1.00
R2074:Tmem130	UTSW	5	144,692,084 (GRCm39)	missense	possibly damaging	0.86
R2145:Tmem130	UTSW	5	144,680,595 (GRCm39)	missense	probably benign	0.08
R2183:Tmem130	UTSW	5	144,692,242 (GRCm39)	missense	possibly damaging	0.87
R3971:Tmem130	UTSW	5	144,692,131 (GRCm39)	missense	probably benign	0.04
R5092:Tmem130	UTSW	5	144,680,528 (GRCm39)	missense	probably benign	0.04
R5743:Tmem130	UTSW	5	144,687,749 (GRCm39)	missense	probably damaging	0.99
R6151:Tmem130	UTSW	5	144,674,661 (GRCm39)	missense	probably benign	0.41
R6499:Tmem130	UTSW	5	144,689,224 (GRCm39)	missense	probably damaging	1.00
R7124:Tmem130	UTSW	5	144,687,721 (GRCm39)	missense	probably damaging	0.97
R7798:Tmem130	UTSW	5	144,680,580 (GRCm39)	missense	probably damaging	1.00
R7984:Tmem130	UTSW	5	144,692,237 (GRCm39)	missense	possibly damaging	0.71
R9131:Tmem130	UTSW	5	144,680,529 (GRCm39)	missense
R9680:Tmem130	UTSW	5	144,674,233 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCGAGCACTGACAGAGACA -3'
(R):5'- ACTGGGACATCTCAGTGGTGG -3'

Sequencing Primer
(F):5'- TCAGGTTACATACTGAGACCCTGG -3'
(R):5'- GAGAATCGAGATCCACTGGGTCTC -3'

Posted On

2014-08-25