Mutagenetix > Incidental Mutation

Incidental Mutation 'R6499:Tmem130'

519623

Institutional Source

Beutler Lab

Gene Symbol

Tmem130

Ensembl Gene

ENSMUSG00000043388

Gene Name

transmembrane protein 130

Synonyms

MMRRC Submission

044631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144672725-144698388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144689224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 139 (N139I)

Ref Sequence

ENSEMBL: ENSMUSP00000061100 (fasta)

Gene Model

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

AlphaFold

Q6NXM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061446
AA Change: N139I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061100
Gene: ENSMUSG00000043388
AA Change: N139I

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,561 (GRCm39)	T1250M	probably damaging	Het
Actn1	C	T	12: 80,215,191 (GRCm39)	A857T	possibly damaging	Het
Adam2	C	T	14: 66,296,239 (GRCm39)	V207I	probably damaging	Het
Angpt2	T	C	8: 18,744,533 (GRCm39)	T404A	probably benign	Het
Ank3	T	C	10: 69,827,574 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,930,930 (GRCm39)	Q958K	probably damaging	Het
B4galt4	T	A	16: 38,578,184 (GRCm39)	D210E	probably benign	Het
Brinp3	A	T	1: 146,777,431 (GRCm39)	H626L	possibly damaging	Het
Ccna2	T	G	3: 36,625,112 (GRCm39)	D68A	probably damaging	Het
Cd163	G	A	6: 124,281,703 (GRCm39)	G2D	probably benign	Het
Chrm5	A	T	2: 112,310,825 (GRCm39)	V97D	probably benign	Het
Dctn5	G	A	7: 121,734,320 (GRCm39)	V55I	probably benign	Het
Dnm3	A	T	1: 162,141,164 (GRCm39)	I365N	probably damaging	Het
Esyt2	A	G	12: 116,284,790 (GRCm39)	D184G	probably damaging	Het
Ifi214	C	A	1: 173,352,597 (GRCm39)	K277N	probably damaging	Het
Il11ra1	C	T	4: 41,765,412 (GRCm39)	P169L	probably benign	Het
Inhbb	C	T	1: 119,345,069 (GRCm39)	E407K	probably damaging	Het
Lama2	T	A	10: 26,907,154 (GRCm39)	T2336S	probably damaging	Het
Ldhb	A	T	6: 142,439,847 (GRCm39)	V231E	possibly damaging	Het
Lrit2	T	C	14: 36,790,767 (GRCm39)	F149L	probably damaging	Het
Malrd1	T	A	2: 15,936,500 (GRCm39)	S1575T	probably benign	Het
Naip5	A	G	13: 100,358,102 (GRCm39)	C1045R	probably benign	Het
Nefl	A	G	14: 68,322,034 (GRCm39)	E208G	probably damaging	Het
Oog4	A	C	4: 143,164,548 (GRCm39)	S328A	probably damaging	Het
Or1e1	T	A	11: 73,245,011 (GRCm39)	L144Q	probably damaging	Het
Or5p79	G	T	7: 108,221,713 (GRCm39)	M231I	probably benign	Het
Or6c216	T	C	10: 129,678,453 (GRCm39)	I153V	probably benign	Het
Or7e168	A	G	9: 19,719,847 (GRCm39)	I78V	probably benign	Het
Pbrm1	A	G	14: 30,783,466 (GRCm39)	N528D	probably damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Polq	T	C	16: 36,881,189 (GRCm39)	S839P	probably benign	Het
Psmg1	A	G	16: 95,789,297 (GRCm39)	F87L	probably damaging	Het
Ptprt	A	G	2: 161,376,507 (GRCm39)	M1298T	probably benign	Het
Rbm27	T	A	18: 42,470,076 (GRCm39)	W958R	probably damaging	Het
Skint5	T	G	4: 113,396,552 (GRCm39)	D1207A	unknown	Het
Stx17	T	A	4: 48,183,478 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,099 (GRCm39)	*310R	probably null	Het
Trpc1	T	C	9: 95,608,490 (GRCm39)	E267G	probably damaging	Het
Trrap	T	A	5: 144,793,812 (GRCm39)	M3398K	probably damaging	Het
Vrtn	T	G	12: 84,697,090 (GRCm39)	D613E	probably benign	Het
Vsx1	G	T	2: 150,530,441 (GRCm39)	T147K	probably benign	Het
Wdr55	T	C	18: 36,895,231 (GRCm39)	V103A	probably benign	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	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
R2031:Tmem130	UTSW	5	144,689,236 (GRCm39)	missense	possibly damaging	0.88
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
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'- TCCGAGCACTGACAGAGACAG -3'
(R):5'- ATCGAGATCCACTGGGTCTC -3'

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

Posted On

2018-06-06