Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01133:Tmem130'

51168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem130

Ensembl Gene

ENSMUSG00000043388

Gene Name

transmembrane protein 130

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

144672725-144698388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144689255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 129 (S129P)

Ref Sequence

ENSEMBL: ENSMUSP00000061100 (fasta)

Gene Model

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

AlphaFold

Q6NXM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061446
AA Change: S129P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061100
Gene: ENSMUSG00000043388
AA Change: S129P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adam4	T	C	12: 81,468,220 (GRCm39)	T134A	possibly damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Cartpt	T	G	13: 100,036,548 (GRCm39)	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ccer1	T	C	10: 97,530,401 (GRCm39)	F355L	probably benign	Het
Cert1	A	G	13: 96,751,310 (GRCm39)	E320G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap299	T	C	5: 98,646,240 (GRCm39)		probably null	Het
Cfap36	A	C	11: 29,184,414 (GRCm39)	V114G	probably damaging	Het
Cyp2b9	G	A	7: 25,909,660 (GRCm39)	G476D	probably damaging	Het
Eif3l	T	C	15: 78,961,120 (GRCm39)	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,615,410 (GRCm39)	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,302,786 (GRCm39)	F236L	possibly damaging	Het
Golga1	T	C	2: 38,913,484 (GRCm39)	T501A	probably benign	Het
Heg1	C	T	16: 33,547,657 (GRCm39)	H815Y	probably benign	Het
Krt1	A	T	15: 101,756,628 (GRCm39)	D298E	probably damaging	Het
Mecr	T	A	4: 131,570,907 (GRCm39)	S32T	probably benign	Het
Med1	A	T	11: 98,048,812 (GRCm39)	Y661*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,252,239 (GRCm39)	A37S	probably benign	Het
Plekha7	G	T	7: 115,744,476 (GRCm39)		probably null	Het
Ralgapa1	T	C	12: 55,689,133 (GRCm39)	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,689,144 (GRCm39)	H1938R	probably damaging	Het
Sanbr	A	T	11: 23,545,434 (GRCm39)	D486E	probably damaging	Het
Sec31b	A	G	19: 44,515,480 (GRCm39)	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,087,758 (GRCm39)	I227T	probably benign	Het
Slc1a3	A	G	15: 8,675,171 (GRCm39)	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,680,477 (GRCm39)	Y127C	probably damaging	Het
Spen	T	C	4: 141,217,212 (GRCm39)	K449R	unknown	Het
Thoc2l	A	G	5: 104,665,528 (GRCm39)	T17A	probably benign	Het
Trim68	A	T	7: 102,328,348 (GRCm39)		probably null	Het
Vdac3-ps1	T	C	13: 18,206,034 (GRCm39)		noncoding transcript	Het
Vmn2r75	A	G	7: 85,797,240 (GRCm39)		probably benign	Het
Zbtb9	G	T	17: 27,193,985 (GRCm39)		probably benign	Het
Zfp568	T	A	7: 29,687,233 (GRCm39)		probably null	Het

Other mutations in Tmem130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21