Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02483:Tmem184a'

295310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem184a

Ensembl Gene

ENSMUSG00000036687

Gene Name

transmembrane protein 184a

Synonyms

Sdmg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL02483

Quality Score

Status

Chromosome

Chromosomal Location

139790707-139805725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139798832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 39 (E39G)

Ref Sequence

ENSEMBL: ENSMUSP00000119412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044002] [ENSMUST00000110832] [ENSMUST00000146780] [ENSMUST00000147328] [ENSMUST00000182839]

AlphaFold

Q3UFJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000044002
AA Change: E63G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687
AA Change: E63G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	46	54	N/A	INTRINSIC
Pfam:Solute_trans_a	82	356	2.2e-93	PFAM
low complexity region	408	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110832
AA Change: E39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687
AA Change: E39G

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
Pfam:Solute_trans_a	55	332	6.7e-101	PFAM
low complexity region	384	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146780
AA Change: E39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117714
Gene: ENSMUSG00000036687
AA Change: E39G

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147328
AA Change: E39G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119412
Gene: ENSMUSG00000036687
AA Change: E39G

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182839
AA Change: E111G

SMART Domains

Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
AA Change: E111G

Domain	Start	End	E-Value	Type
Pfam:DUF2372	34	82	2e-14	PFAM
low complexity region	94	102	N/A	INTRINSIC
Pfam:Solute_trans_a	127	226	3.5e-36	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	G	8: 84,451,882 (GRCm39)	I512L	probably damaging	Het
Ahnak	C	A	19: 8,980,672 (GRCm39)	T652N	probably benign	Het
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Arnt2	T	A	7: 83,900,605 (GRCm39)	H659L	probably damaging	Het
Cad	A	G	5: 31,218,170 (GRCm39)		probably null	Het
Car6	T	A	4: 150,280,586 (GRCm39)	N86I	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Cyp2c39	T	A	19: 39,525,231 (GRCm39)	I178N	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Fmo4	A	G	1: 162,635,990 (GRCm39)	V54A	possibly damaging	Het
Foxd3	C	T	4: 99,545,265 (GRCm39)	S135F	probably damaging	Het
Fut7	T	A	2: 25,313,888 (GRCm39)	F21Y	possibly damaging	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gm4950	A	T	18: 51,998,406 (GRCm39)	M183K	probably damaging	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Hpd	A	T	5: 123,320,641 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,356 (GRCm39)		probably null	Het
Itgbl1	A	T	14: 124,065,155 (GRCm39)		probably benign	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kdr	C	T	5: 76,096,954 (GRCm39)		probably null	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Lrrc28	T	C	7: 67,267,731 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Map3k8	A	G	18: 4,349,318 (GRCm39)		probably benign	Het
Mcm3	A	G	1: 20,873,796 (GRCm39)	S775P	possibly damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Nbas	C	T	12: 13,374,295 (GRCm39)	A541V	probably damaging	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Oma1	C	T	4: 103,182,309 (GRCm39)	R271*	probably null	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4c111	G	T	2: 88,843,547 (GRCm39)	T287N	probably damaging	Het
Plekhh2	T	C	17: 84,903,688 (GRCm39)	F1058S	possibly damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Psme3ip1	A	G	8: 95,315,394 (GRCm39)		probably benign	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Rgs12	A	G	5: 35,187,861 (GRCm39)	E506G	probably damaging	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Sfr1	G	A	19: 47,721,227 (GRCm39)		probably benign	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Trim66	C	T	7: 109,076,837 (GRCm39)		probably benign	Het
Ugt2b35	A	G	5: 87,149,004 (GRCm39)	Y85C	possibly damaging	Het
Uts2r	G	T	11: 121,051,213 (GRCm39)	G26C	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het

Other mutations in Tmem184a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Tmem184a	APN	5	139,798,899 (GRCm39)	missense	possibly damaging	0.90
IGL02111:Tmem184a	APN	5	139,798,856 (GRCm39)	missense	possibly damaging	0.92
IGL03352:Tmem184a	APN	5	139,798,755 (GRCm39)	missense	probably damaging	0.98
R1488:Tmem184a	UTSW	5	139,793,395 (GRCm39)	missense	probably benign	0.14
R1950:Tmem184a	UTSW	5	139,793,381 (GRCm39)	missense	probably damaging	1.00
R3610:Tmem184a	UTSW	5	139,793,710 (GRCm39)	critical splice donor site	probably null
R4690:Tmem184a	UTSW	5	139,791,377 (GRCm39)	missense	probably benign	0.01
R4977:Tmem184a	UTSW	5	139,793,757 (GRCm39)	missense	probably null	0.57
R6247:Tmem184a	UTSW	5	139,798,827 (GRCm39)	missense	probably benign	0.02
R6497:Tmem184a	UTSW	5	139,798,755 (GRCm39)	missense	probably damaging	0.99
R6515:Tmem184a	UTSW	5	139,794,193 (GRCm39)	missense	probably benign	0.39
R7348:Tmem184a	UTSW	5	139,799,809 (GRCm39)	missense	probably null	0.12
R7742:Tmem184a	UTSW	5	139,792,744 (GRCm39)	missense	probably benign	0.16
R8949:Tmem184a	UTSW	5	139,791,311 (GRCm39)	missense	probably benign	0.12
R9522:Tmem184a	UTSW	5	139,791,485 (GRCm39)	missense	probably benign	0.03
R9691:Tmem184a	UTSW	5	139,798,790 (GRCm39)	missense	possibly damaging	0.83
R9776:Tmem184a	UTSW	5	139,791,984 (GRCm39)	missense	possibly damaging	0.69

Posted On

2015-04-16