Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Tmem183a'

485350

Institutional Source

Beutler Lab

Gene Symbol

Tmem183a

Ensembl Gene

ENSMUSG00000042305

Gene Name

transmembrane protein 183A

Synonyms

1300007B12Rik

MMRRC Submission

044253-MU

Accession Numbers

Essential gene?

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

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134273835-134289717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 134275884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 331 (V331L)

Ref Sequence

ENSEMBL: ENSMUSP00000046786 (fasta)

Gene Model

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

AlphaFold

Q9JJB9

Predicted Effect

probably benign
Transcript: ENSMUST00000049470
AA Change: V331L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000046786
Gene: ENSMUSG00000042305
AA Change: V331L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189572

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: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,768,445 (GRCm39)	S926P	possibly damaging	Het
Acacb	T	A	5: 114,383,942 (GRCm39)	M2157K	probably damaging	Het
Aco2	T	C	15: 81,797,452 (GRCm39)	V636A	probably benign	Het
Adgrf3	T	C	5: 30,401,265 (GRCm39)	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,272,055 (GRCm39)	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,603,999 (GRCm39)	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,508,578 (GRCm39)	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,537,155 (GRCm39)	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,118,446 (GRCm39)	H159R	probably damaging	Het
Carmil3	A	T	14: 55,742,884 (GRCm39)	T1185S	probably benign	Het
Casp2	A	T	6: 42,256,814 (GRCm39)	R357S	probably damaging	Het
Ccdc34	A	G	2: 109,848,352 (GRCm39)	D47G	probably benign	Het
Cd109	A	G	9: 78,605,596 (GRCm39)		probably null	Het
Cd209d	T	C	8: 3,928,304 (GRCm39)	Y27C	probably damaging	Het
Cep350	T	A	1: 155,800,322 (GRCm39)	D1176V	probably benign	Het
Cpd	A	T	11: 76,690,625 (GRCm39)	S844T	probably benign	Het
Cyp4x1	A	G	4: 114,968,864 (GRCm39)	L380P	probably damaging	Het
Dscam	A	G	16: 96,626,781 (GRCm39)	V376A	probably benign	Het
Enam	T	A	5: 88,650,187 (GRCm39)	N565K	probably damaging	Het
Fam110c	G	A	12: 31,124,794 (GRCm39)	W252*	probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fgb	T	C	3: 82,951,170 (GRCm39)	D281G	probably benign	Het
Frem2	T	A	3: 53,457,209 (GRCm39)	T2048S	probably benign	Het
Fut8	A	T	12: 77,378,721 (GRCm39)		probably benign	Het
Glmp	T	C	3: 88,235,338 (GRCm39)	S238P	probably benign	Het
Gm35315	T	A	5: 110,226,137 (GRCm39)	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,620,856 (GRCm39)	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,019,820 (GRCm39)	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,323,547 (GRCm39)	F275S	possibly damaging	Het
Ift140	T	A	17: 25,312,100 (GRCm39)	C1314S	probably damaging	Het
Kif9	T	C	9: 110,318,917 (GRCm39)	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,553,618 (GRCm39)		probably null	Het
Ms4a3	A	T	19: 11,616,582 (GRCm39)	V20D	possibly damaging	Het
Mtres1	A	T	10: 43,408,916 (GRCm39)	Y76N	probably benign	Het
Myh7b	A	G	2: 155,460,663 (GRCm39)	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,158,743 (GRCm39)	G292S	probably damaging	Het
Notch2	T	A	3: 98,043,059 (GRCm39)	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,590,163 (GRCm39)	E21K	probably damaging	Het
Or5ar1	A	G	2: 85,671,776 (GRCm39)	Y120H	probably damaging	Het
Osbpl10	T	A	9: 114,890,940 (GRCm39)	Y109*	probably null	Het
Plcd1	A	T	9: 118,901,109 (GRCm39)	W749R	probably benign	Het
Ptpro	A	G	6: 137,377,704 (GRCm39)	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,837,947 (GRCm39)	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setdb2	T	C	14: 59,646,981 (GRCm39)		probably null	Het
Slc25a18	C	A	6: 120,766,399 (GRCm39)	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,064,809 (GRCm39)	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,026,979 (GRCm39)	W757R	probably damaging	Het
Try10	C	A	6: 41,333,484 (GRCm39)	H76Q	probably damaging	Het
Ttn	T	A	2: 76,748,599 (GRCm39)	H4150L	probably benign	Het
Vmn2r52	G	A	7: 9,905,327 (GRCm39)	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,652,826 (GRCm39)	T450A	probably benign	Het
Yipf7	A	T	5: 69,698,405 (GRCm39)	V34D	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zg16	A	G	7: 126,649,748 (GRCm39)	V71A	probably benign	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
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
R8232:Tmem183a	UTSW	1	134,277,918 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGTGCATCACTAATCAGC -3'
(R):5'- ACAAACCTTGAGGCTGAACC -3'

Sequencing Primer
(F):5'- CTAATGGACTAGACTGGAAGCTATC -3'
(R):5'- GCTGAACCAAGGTATATTAGACCATC -3'

Posted On

2017-08-16