Mutagenetix > Incidental Mutation

Incidental Mutation 'R8232:Tmem183a'

637168

Institutional Source

Beutler Lab

Gene Symbol

Tmem183a

Ensembl Gene

ENSMUSG00000042305

Gene Name

transmembrane protein 183A

Synonyms

1300007B12Rik

MMRRC Submission

067664-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R8232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134273835-134289717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134277918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 282 (D282V)

Ref Sequence

ENSEMBL: ENSMUSP00000046786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049470] [ENSMUST00000191237]

AlphaFold

Q9JJB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049470
AA Change: D282V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046786
Gene: ENSMUSG00000042305
AA Change: D282V

Domain	Start	End	E-Value	Type
low complexity region	110	122	N/A	INTRINSIC
transmembrane domain	297	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191237

SMART Domains

Protein: ENSMUSP00000139821
Gene: ENSMUSG00000042305

Domain	Start	End	E-Value	Type
low complexity region	110	122	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	T	4: 49,450,817 (GRCm39)	M98K	probably damaging	Het
Actn3	A	T	19: 4,921,683 (GRCm39)	W166R	probably damaging	Het
Adamts16	C	A	13: 70,941,217 (GRCm39)	C390F	probably damaging	Het
Arhgap32	A	T	9: 32,168,198 (GRCm39)	D727V	probably damaging	Het
Bcr	A	G	10: 75,001,883 (GRCm39)	Y929C	probably damaging	Het
Bmp1	T	A	14: 70,757,329 (GRCm39)	Y50F	probably damaging	Het
Camta2	G	A	11: 70,573,841 (GRCm39)	R171C	unknown	Het
Ccnd2	A	G	6: 127,127,549 (GRCm39)	L63P	probably damaging	Het
Clip1	G	C	5: 123,785,981 (GRCm39)	D234E	probably benign	Het
Dnah9	A	T	11: 65,746,149 (GRCm39)	I3988N	possibly damaging	Het
Frmpd2	T	G	14: 33,261,724 (GRCm39)	I843S	probably damaging	Het
Gcgr	A	G	11: 120,427,328 (GRCm39)	Y146C	probably damaging	Het
Gm5930	T	G	14: 44,573,181 (GRCm39)	K158T	probably damaging	Het
Gnl1	T	A	17: 36,298,487 (GRCm39)	C410*	probably null	Het
Gtf2h1	T	A	7: 46,451,103 (GRCm39)	I4K	probably benign	Het
Il12b	A	G	11: 44,299,401 (GRCm39)	S157G	possibly damaging	Het
Jcad	G	T	18: 4,674,862 (GRCm39)	A875S	probably benign	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Krtap4-6	A	C	11: 99,556,568 (GRCm39)	L53R	unknown	Het
Myo10	G	A	15: 25,804,400 (GRCm39)	G1565D	possibly damaging	Het
Nf1	A	G	11: 79,469,157 (GRCm39)	S806G	probably damaging	Het
Nlrp5	G	T	7: 23,116,770 (GRCm39)	V165L	probably benign	Het
Nppa	T	C	4: 148,085,795 (GRCm39)	I134T	possibly damaging	Het
Or4a72	A	T	2: 89,405,938 (GRCm39)	V44E	noncoding transcript	Het
Or51ai2	G	A	7: 103,586,980 (GRCm39)	R131Q	possibly damaging	Het
Or5b107	A	G	19: 13,142,683 (GRCm39)	M102V	probably benign	Het
Or5p68	A	T	7: 107,945,495 (GRCm39)	M231K	probably damaging	Het
Or6c202	C	A	10: 128,996,097 (GRCm39)	C252F	probably damaging	Het
Scyl2	A	T	10: 89,498,309 (GRCm39)	F167I	probably damaging	Het
Smarcal1	T	C	1: 72,665,722 (GRCm39)	L740S	probably damaging	Het
Trhde	A	T	10: 114,636,442 (GRCm39)	V255E	possibly damaging	Het
Vmn1r229	T	A	17: 21,035,309 (GRCm39)	C185S	probably damaging	Het
Vmn2r58	A	T	7: 41,514,076 (GRCm39)	M189K	probably damaging	Het
Vps50	T	G	6: 3,600,139 (GRCm39)	V866G	probably damaging	Het

Other mutations in Tmem183a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Tmem183a	APN	1	134,277,882 (GRCm39)	missense	probably damaging	1.00
R0611:Tmem183a	UTSW	1	134,280,115 (GRCm39)	missense	probably damaging	1.00
R0987:Tmem183a	UTSW	1	134,280,109 (GRCm39)	missense	probably damaging	1.00
R1444:Tmem183a	UTSW	1	134,289,284 (GRCm39)	missense	probably benign	0.00
R1589:Tmem183a	UTSW	1	134,282,444 (GRCm39)	missense	probably damaging	0.96
R2007:Tmem183a	UTSW	1	134,277,861 (GRCm39)	missense	probably damaging	1.00
R4735:Tmem183a	UTSW	1	134,288,620 (GRCm39)	missense	probably damaging	0.96
R4900:Tmem183a	UTSW	1	134,275,904 (GRCm39)	missense	probably benign	0.15
R6103:Tmem183a	UTSW	1	134,275,884 (GRCm39)	missense	probably benign	0.02
R6296:Tmem183a	UTSW	1	134,289,349 (GRCm39)	missense	probably damaging	1.00
R7190:Tmem183a	UTSW	1	134,282,496 (GRCm39)	missense	probably damaging	1.00
R7702:Tmem183a	UTSW	1	134,288,539 (GRCm39)	missense	probably benign
R8122:Tmem183a	UTSW	1	134,282,503 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GATTTCTTCCCAGTAGTTAAGTCTGC -3'
(R):5'- TCTTTGATCTCTGCATGGAAACC -3'

Sequencing Primer
(F):5'- TCCCAGTAGTTAAGTCTGCAAATCC -3'
(R):5'- GATCTCTGCATGGAAACCAATATG -3'

Posted On

2020-07-13