Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02736:Tmem184c'

305649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

IGL02736

Quality Score

Status

Chromosome

Chromosomal Location

78322611-78337327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78324475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 338 (D338E)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034030]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034030
AA Change: D338E

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

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: D338E

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Solute_trans_a	48	317	1.9e-101	PFAM
low complexity region	373	388	N/A	INTRINSIC
low complexity region	404	415	N/A	INTRINSIC
internal_repeat_1	422	485	1.18e-11	PROSPERO
low complexity region	500	512	N/A	INTRINSIC
internal_repeat_1	519	599	1.18e-11	PROSPERO
low complexity region	600	621	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 12,042,275 (GRCm39)	A416T	probably benign	Het
Aadacl4fm1	G	A	4: 144,255,207 (GRCm39)	R209K	probably benign	Het
Akap12	A	G	10: 4,305,637 (GRCm39)	I816V	probably benign	Het
Antxrl	A	G	14: 33,778,575 (GRCm39)		probably benign	Het
Atp1a3	G	A	7: 24,679,534 (GRCm39)	T920I	probably damaging	Het
Cd22	C	T	7: 30,577,470 (GRCm39)		probably null	Het
Cntn3	T	A	6: 102,180,900 (GRCm39)	N765I	probably damaging	Het
Cracdl	T	C	1: 37,676,954 (GRCm39)	E76G	probably damaging	Het
Crebbp	G	A	16: 3,972,774 (GRCm39)	P307S	probably benign	Het
Dapk2	T	A	9: 66,176,198 (GRCm39)	M333K	probably benign	Het
Decr1	T	A	4: 15,930,952 (GRCm39)	T127S	probably benign	Het
Dnmbp	A	T	19: 43,838,209 (GRCm39)		probably benign	Het
Erbin	A	G	13: 103,975,903 (GRCm39)	S664P	probably damaging	Het
Hectd4	G	T	5: 121,480,782 (GRCm39)	C2941F	possibly damaging	Het
Ighv1-4	A	G	12: 114,450,872 (GRCm39)	Y79H	probably benign	Het
Matn3	T	A	12: 9,005,422 (GRCm39)	D277E	possibly damaging	Het
Mgarp	C	A	3: 51,303,866 (GRCm39)	A36S	possibly damaging	Het
Mycbp2	A	G	14: 103,351,678 (GRCm39)		probably benign	Het
Nynrin	G	A	14: 56,108,366 (GRCm39)	A1158T	probably damaging	Het
Or4k5	G	A	14: 50,385,881 (GRCm39)	A150V	probably benign	Het
Or6k14	T	G	1: 173,927,213 (GRCm39)	I63S	probably damaging	Het
Pakap	C	A	4: 57,709,721 (GRCm39)	A222E	probably damaging	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Ppig	A	G	2: 69,566,438 (GRCm39)	I171M	probably damaging	Het
Ptprs	A	T	17: 56,765,248 (GRCm39)	V12E	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rpgrip1l	T	A	8: 91,990,219 (GRCm39)	Q741L	possibly damaging	Het
Slco6d1	T	C	1: 98,356,036 (GRCm39)	V157A	possibly damaging	Het
Sox6	A	C	7: 115,179,875 (GRCm39)	D302E	probably damaging	Het
Spata3	T	C	1: 85,952,157 (GRCm39)	V136A	probably damaging	Het
St6galnac6	G	A	2: 32,504,983 (GRCm39)	R129H	probably benign	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,708,614 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Zc3h4	T	A	7: 16,151,308 (GRCm39)	Y117*	probably null	Het
Zc3h7b	A	T	15: 81,676,175 (GRCm39)	M694L	probably benign	Het
Zfp345	A	T	2: 150,316,474 (GRCm39)	Y45N	probably damaging	Het

Other mutations in Tmem184c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Tmem184c	APN	8	78,323,775 (GRCm39)	nonsense	probably null
IGL02024:Tmem184c	APN	8	78,331,443 (GRCm39)	missense	probably benign	0.10
IGL02231:Tmem184c	APN	8	78,331,441 (GRCm39)	missense	probably damaging	1.00
IGL02934:Tmem184c	APN	8	78,324,449 (GRCm39)	missense	probably damaging	1.00
IGL03046:Tmem184c	UTSW	8	78,326,286 (GRCm39)	nonsense	probably null
R0107:Tmem184c	UTSW	8	78,323,702 (GRCm39)	missense	possibly damaging	0.78
R0107:Tmem184c	UTSW	8	78,323,702 (GRCm39)	missense	possibly damaging	0.78
R0189:Tmem184c	UTSW	8	78,324,441 (GRCm39)	missense	possibly damaging	0.92
R0564:Tmem184c	UTSW	8	78,332,789 (GRCm39)	splice site	probably null
R0946:Tmem184c	UTSW	8	78,331,386 (GRCm39)	missense	probably damaging	1.00
R1629:Tmem184c	UTSW	8	78,332,791 (GRCm39)	critical splice donor site	probably null
R1629:Tmem184c	UTSW	8	78,329,551 (GRCm39)	missense	possibly damaging	0.87
R2261:Tmem184c	UTSW	8	78,323,804 (GRCm39)	missense	probably damaging	0.99
R2261:Tmem184c	UTSW	8	78,323,672 (GRCm39)	missense	probably damaging	1.00
R2919:Tmem184c	UTSW	8	78,331,276 (GRCm39)	missense	probably damaging	1.00
R3805:Tmem184c	UTSW	8	78,323,504 (GRCm39)	missense	unknown
R5418:Tmem184c	UTSW	8	78,324,449 (GRCm39)	missense	probably damaging	1.00
R5716:Tmem184c	UTSW	8	78,333,036 (GRCm39)	missense	possibly damaging	0.90
R5934:Tmem184c	UTSW	8	78,331,352 (GRCm39)	nonsense	probably null
R5951:Tmem184c	UTSW	8	78,325,291 (GRCm39)	splice site	probably null
R6150:Tmem184c	UTSW	8	78,323,069 (GRCm39)	missense	probably benign	0.04
R7206:Tmem184c	UTSW	8	78,323,206 (GRCm39)	missense	possibly damaging	0.46
R7387:Tmem184c	UTSW	8	78,324,559 (GRCm39)	nonsense	probably null
R7899:Tmem184c	UTSW	8	78,324,440 (GRCm39)	missense	probably damaging	1.00
R7959:Tmem184c	UTSW	8	78,329,532 (GRCm39)	missense	possibly damaging	0.94
R8100:Tmem184c	UTSW	8	78,331,411 (GRCm39)	missense	possibly damaging	0.92
R8246:Tmem184c	UTSW	8	78,336,814 (GRCm39)	missense	probably damaging	1.00
R9800:Tmem184c	UTSW	8	78,323,087 (GRCm39)	missense	probably benign	0.10

Posted On

2015-04-16