Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Tmem183a'

559523

Institutional Source

Beutler Lab

Gene Symbol

Tmem183a

Ensembl Gene

ENSMUSG00000042305

Gene Name

transmembrane protein 183A

Synonyms

1300007B12Rik

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134273835-134289717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134282496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 203 (I203N)

Ref Sequence

ENSEMBL: ENSMUSP00000046786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049470] [ENSMUST00000185903] [ENSMUST00000191237]

AlphaFold

Q9JJB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049470
AA Change: I203N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046786
Gene: ENSMUSG00000042305
AA Change: I203N

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: ENSMUST00000185903

SMART Domains

Protein: ENSMUSP00000141012
Gene: ENSMUSG00000042305

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191237
AA Change: I203N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139821
Gene: ENSMUSG00000042305
AA Change: I203N

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

Meta Mutation Damage Score

0.6442

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	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
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
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'- ACCTACAAGTTTACATGAGCCC -3'
(R):5'- TCACATGGAAGTTGGGGTCC -3'

Sequencing Primer
(F):5'- AGTTTACATGAGCCCCCTAATGG -3'
(R):5'- TCCTGGGAGGCTGAATAAGAAC -3'

Posted On

2019-06-26