Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Tmem184c'

285707

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?

Possibly non essential (E-score: 0.264) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

78322611-78337327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78331441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 103 (Y103H)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034030] [ENSMUST00000141202] [ENSMUST00000152168]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034030
AA Change: Y103H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: Y103H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141202

SMART Domains

Protein: ENSMUSP00000120041
Gene: ENSMUSG00000031617

Domain	Start	End	E-Value	Type
transmembrane domain	54	76	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152168
AA Change: Y143H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617
AA Change: Y143H

Domain	Start	End	E-Value	Type
transmembrane domain	53	75	N/A	INTRINSIC
Pfam:Solute_trans_a	85	228	1.4e-49	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	A	16: 52,094,413 (GRCm39)		probably benign	Het
Alox15	A	C	11: 70,240,382 (GRCm39)	D266E	probably benign	Het
Atcay	A	T	10: 81,046,382 (GRCm39)	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,683,455 (GRCm39)	G758R	possibly damaging	Het
Bltp2	G	A	11: 78,170,722 (GRCm39)	G1647D	probably benign	Het
Cacna2d4	T	A	6: 119,254,869 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,719,709 (GRCm39)	V2429A	probably damaging	Het
Clspn	T	G	4: 126,453,021 (GRCm39)	D11E	probably damaging	Het
Cnot3	A	G	7: 3,661,209 (GRCm39)	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Edem1	A	G	6: 108,805,849 (GRCm39)	D50G	probably benign	Het
Emilin3	G	A	2: 160,750,435 (GRCm39)	T438I	probably damaging	Het
Etfdh	C	T	3: 79,525,700 (GRCm39)	V173I	probably damaging	Het
Fat2	T	C	11: 55,171,918 (GRCm39)	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,292,469 (GRCm39)	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,292,470 (GRCm39)	E154V	probably damaging	Het
G3bp1	T	A	11: 55,386,273 (GRCm39)	L244*	probably null	Het
Itgae	A	T	11: 72,981,448 (GRCm39)	K2M	possibly damaging	Het
Kcnq2	T	C	2: 180,723,508 (GRCm39)	I654V	probably benign	Het
Ksr2	C	T	5: 117,638,841 (GRCm39)	R82C	probably damaging	Het
Lrig3	A	T	10: 125,833,041 (GRCm39)	D305V	probably damaging	Het
Me1	T	C	9: 86,493,908 (GRCm39)	K322E	possibly damaging	Het
Med12l	T	A	3: 59,153,303 (GRCm39)	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,772 (GRCm39)	K73E	possibly damaging	Het
Nup155	T	G	15: 8,173,548 (GRCm39)	L881R	probably damaging	Het
Ocln	A	T	13: 100,677,622 (GRCm39)	S2T	probably damaging	Het
Oosp3	T	C	19: 11,676,803 (GRCm39)	L54S	probably damaging	Het
Pkp3	G	A	7: 140,664,151 (GRCm39)	E443K	probably damaging	Het
Plk2	T	A	13: 110,536,603 (GRCm39)	C632S	probably benign	Het
Ptk6	C	T	2: 180,838,794 (GRCm39)	V320I	probably damaging	Het
Ptprt	A	T	2: 162,079,980 (GRCm39)	I273N	probably damaging	Het
Ptprt	A	G	2: 162,119,966 (GRCm39)		probably null	Het
Rab3gap2	T	C	1: 184,999,095 (GRCm39)		probably benign	Het
Rabgef1	G	A	5: 130,240,816 (GRCm39)	A312T	probably damaging	Het
Rabl6	T	A	2: 25,488,196 (GRCm39)	K109N	probably benign	Het
Rbp7	C	T	4: 149,539,334 (GRCm39)		probably null	Het
Reg3a	C	T	6: 78,359,224 (GRCm39)	H75Y	possibly damaging	Het
Rnf123	G	T	9: 107,943,598 (GRCm39)	P546T	probably benign	Het
Rnmt	C	A	18: 68,447,152 (GRCm39)	C345*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,252,236 (GRCm39)	S25N	possibly damaging	Het
Spata16	G	T	3: 26,967,413 (GRCm39)	G388W	probably damaging	Het
Speg	C	T	1: 75,400,031 (GRCm39)	R2493W	probably damaging	Het
Thada	T	A	17: 84,736,125 (GRCm39)	D970V	probably damaging	Het
Ttn	A	T	2: 76,628,440 (GRCm39)	D12827E	probably damaging	Het
Utp20	A	G	10: 88,627,030 (GRCm39)	L976S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp936	T	A	7: 42,836,909 (GRCm39)		probably null	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
IGL02736:Tmem184c	APN	8	78,324,475 (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