Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Tmem130'

445660

Institutional Source

Beutler Lab

Gene Symbol

Tmem130

Ensembl Gene

ENSMUSG00000043388

Gene Name

transmembrane protein 130

Synonyms

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

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

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144735915-144761818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144750939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 196 (S196P)

Ref Sequence

ENSEMBL: ENSMUSP00000061100 (fasta)

Gene Model

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

AlphaFold

Q6NXM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061446
AA Change: S196P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061100
Gene: ENSMUSG00000043388
AA Change: S196P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	G	7: 118,797,011 (GRCm38)	T538A	possibly damaging	Het
Acss2	A	G	2: 155,574,616 (GRCm38)		probably benign	Het
Ankef1	A	G	2: 136,549,709 (GRCm38)		probably null	Het
Arhgap20	T	A	9: 51,816,727 (GRCm38)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,981,911 (GRCm38)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,244,785 (GRCm38)	P906S	probably benign	Het
Caskin2	T	A	11: 115,802,289 (GRCm38)	N603I	possibly damaging	Het
Ccdc159	A	T	9: 21,929,390 (GRCm38)	E84D	probably benign	Het
Ccl1	T	G	11: 82,176,886 (GRCm38)	S73R	possibly damaging	Het
Cdh7	G	T	1: 110,108,845 (GRCm38)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm38)		probably null	Het
Coq5	A	C	5: 115,279,882 (GRCm38)	E57A	probably benign	Het
Cstf1	T	A	2: 172,377,833 (GRCm38)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,801,001 (GRCm38)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,771,596 (GRCm38)	Q539L	probably benign	Het
Fam205c	G	A	4: 42,873,087 (GRCm38)	T68I	probably damaging	Het
Fbxo46	C	A	7: 19,136,495 (GRCm38)	D346E	probably damaging	Het
Frem3	A	T	8: 80,615,778 (GRCm38)	T1567S	probably damaging	Het
Glce	T	A	9: 62,070,540 (GRCm38)	T21S	probably damaging	Het
Gm16432	G	T	1: 178,122,762 (GRCm38)		silent	Het
Gm19402	C	T	10: 77,690,682 (GRCm38)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm38)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,918,799 (GRCm38)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,138,600 (GRCm38)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,527,487 (GRCm38)	T552K	possibly damaging	Het
Itga2	A	G	13: 114,884,506 (GRCm38)	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,928,355 (GRCm38)	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,466,877 (GRCm38)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,104,132 (GRCm38)	F4L	unknown	Het
Mcpt1	A	T	14: 56,018,615 (GRCm38)	H37L	probably benign	Het
Mpdz	T	C	4: 81,421,188 (GRCm38)	M1V	probably null	Het
Myom2	A	T	8: 15,080,914 (GRCm38)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,643,224 (GRCm38)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,135,420 (GRCm38)	Y30F	probably damaging	Het
Olfr1098	C	A	2: 86,923,205 (GRCm38)	G109V	probably benign	Het
Olfr676	A	G	7: 105,036,156 (GRCm38)		probably null	Het
Olfr891	C	A	9: 38,180,718 (GRCm38)	C35F	probably benign	Het
Orc6	A	T	8: 85,302,956 (GRCm38)	Q43L	probably benign	Het
Otogl	G	A	10: 107,857,001 (GRCm38)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 93,886,724 (GRCm38)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,738,806 (GRCm38)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,356,529 (GRCm38)	S373T	probably damaging	Het
Prop1	T	C	11: 50,951,009 (GRCm38)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,534,115 (GRCm38)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,059,519 (GRCm38)	D102E	probably benign	Het
Rgs1	T	C	1: 144,245,372 (GRCm38)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,658,476 (GRCm38)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,828,457 (GRCm38)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,387,072 (GRCm38)	T429K	probably benign	Het
Slc35f1	T	G	10: 53,089,450 (GRCm38)	D320E	probably benign	Het
Smug1	C	A	15: 103,157,616 (GRCm38)		probably null	Het
Ssrp1	T	A	2: 85,041,168 (GRCm38)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm38)	T1466A	possibly damaging	Het
Trim30d	A	T	7: 104,472,328 (GRCm38)	C176*	probably null	Het
Ush2a	A	G	1: 188,436,962 (GRCm38)	H1100R	probably benign	Het
Vezt	A	T	10: 93,997,095 (GRCm38)	F151L	probably benign	Het
Zc3h3	G	T	15: 75,779,531 (GRCm38)	C638*	probably null	Het
Zfp128	C	T	7: 12,884,727 (GRCm38)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,476,431 (GRCm38)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,295,680 (GRCm38)	K324N	probably benign	Het

Other mutations in Tmem130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Tmem130	APN	5	144,752,445 (GRCm38)	missense	probably damaging	0.99
IGL02808:Tmem130	APN	5	144,743,623 (GRCm38)	missense	probably damaging	1.00
R0599:Tmem130	UTSW	5	144,737,809 (GRCm38)	missense	probably damaging	1.00
R0714:Tmem130	UTSW	5	144,737,809 (GRCm38)	missense	probably damaging	1.00
R1807:Tmem130	UTSW	5	144,755,364 (GRCm38)	missense	probably benign	0.04
R1858:Tmem130	UTSW	5	144,752,283 (GRCm38)	splice site	probably null
R1914:Tmem130	UTSW	5	144,737,856 (GRCm38)	missense	probably damaging	1.00
R1915:Tmem130	UTSW	5	144,737,856 (GRCm38)	missense	probably damaging	1.00
R2031:Tmem130	UTSW	5	144,752,426 (GRCm38)	missense	possibly damaging	0.88
R2074:Tmem130	UTSW	5	144,755,274 (GRCm38)	missense	possibly damaging	0.86
R2145:Tmem130	UTSW	5	144,743,785 (GRCm38)	missense	probably benign	0.08
R2183:Tmem130	UTSW	5	144,755,432 (GRCm38)	missense	possibly damaging	0.87
R3971:Tmem130	UTSW	5	144,755,321 (GRCm38)	missense	probably benign	0.04
R5092:Tmem130	UTSW	5	144,743,718 (GRCm38)	missense	probably benign	0.04
R6151:Tmem130	UTSW	5	144,737,851 (GRCm38)	missense	probably benign	0.41
R6499:Tmem130	UTSW	5	144,752,414 (GRCm38)	missense	probably damaging	1.00
R7124:Tmem130	UTSW	5	144,750,911 (GRCm38)	missense	probably damaging	0.97
R7798:Tmem130	UTSW	5	144,743,770 (GRCm38)	missense	probably damaging	1.00
R7984:Tmem130	UTSW	5	144,755,427 (GRCm38)	missense	possibly damaging	0.71
R9131:Tmem130	UTSW	5	144,743,719 (GRCm38)	missense
R9680:Tmem130	UTSW	5	144,737,423 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTTGTCTAGGACTTCTTGGATAG -3'
(R):5'- AACTGACACATTCATGTTTAAGAGC -3'

Sequencing Primer
(F):5'- TAGTGCTAATCCGGCAGTAGACC -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'

Posted On

2016-11-21