Mutagenetix > Incidental Mutation

Incidental Mutation 'R2919:Tmem184c'

255427

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

040504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R2919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77604647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 158 (C158S)

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: C158S

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

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: C158S

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: C198S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617
AA Change: C198S

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

Meta Mutation Damage Score

0.7680

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,185,191	R27H	probably benign	Het
2310002L09Rik	A	T	4: 73,950,608	L31Q	probably damaging	Het
Agbl1	G	A	7: 76,414,658	D53N	probably damaging	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Als2cl	A	T	9: 110,897,499		probably null	Het
Atg9b	T	A	5: 24,391,544	T125S	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,343	D1472G	probably damaging	Het
Cd1d2	C	G	3: 86,987,680	P158A	probably damaging	Het
Cdc45	A	G	16: 18,808,793	I94T	probably benign	Het
Chd6	T	G	2: 160,967,880	D1487A	possibly damaging	Het
Edem2	T	C	2: 155,709,027	Y340C	probably damaging	Het
Fbxl12	C	T	9: 20,642,213	R26H	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Gm5884	A	G	6: 128,645,058		noncoding transcript	Het
Inpp4b	C	A	8: 81,985,329	A425E	possibly damaging	Het
Kif1a	A	G	1: 93,046,742	Y964H	probably damaging	Het
Lrp1b	A	C	2: 41,770,899	C66G	probably damaging	Het
Lrp4	A	G	2: 91,490,730	I1034V	probably benign	Het
Mmrn2	T	C	14: 34,402,922	V820A	possibly damaging	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mroh9	A	C	1: 163,056,772	M399R	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
N4bp2	G	A	5: 65,807,098	G830D	probably benign	Het
Nagpa	G	A	16: 5,203,787		probably benign	Het
Olfr1000	G	A	2: 85,608,410	P167S	probably benign	Het
Olfr690	C	T	7: 105,329,860	V111M	probably damaging	Het
Oxgr1	T	A	14: 120,022,809		probably benign	Het
Parp3	T	A	9: 106,473,725	R323W	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Pfkp	C	T	13: 6,593,243	G513D	probably damaging	Het
Pla2g4d	T	C	2: 120,281,627		probably benign	Het
Rtl1	T	C	12: 109,591,148	E1419G	unknown	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Sgk2	T	G	2: 162,999,195	L175R	probably damaging	Het
Sgk2	C	A	2: 162,999,205	F178L	probably damaging	Het
Sim1	T	C	10: 50,909,815	Y255H	probably benign	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc38a3	A	T	9: 107,657,687	I163N	probably damaging	Het
Slc39a4	A	G	15: 76,616,670	L31P	probably damaging	Het
Slc5a11	GGTGC	G	7: 123,239,372		probably null	Het
Slfnl1	G	T	4: 120,533,078		probably benign	Het
Stradb	G	A	1: 58,992,669	V247M	probably benign	Het
Styk1	T	A	6: 131,313,004		probably benign	Het
Sult1d1	A	G	5: 87,559,755		probably benign	Het
Syk	C	T	13: 52,611,121	P95S	probably benign	Het
Taar2	T	A	10: 23,941,556	N331K	probably benign	Het
Thsd7b	A	G	1: 130,189,850		probably benign	Het
Tldc1	G	A	8: 119,768,317	A234V	probably benign	Het
Tmbim7	G	A	5: 3,673,188		probably null	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Tmpo	A	G	10: 91,152,686	I310T	probably benign	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Xirp1	T	C	9: 120,018,701	E372G	possibly damaging	Het
Zbtb5	T	C	4: 44,994,790	E198G	probably damaging	Het
Zfp804a	A	G	2: 82,235,816	N44D	probably damaging	Het

Other mutations in Tmem184c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Tmem184c	APN	8	77597146	nonsense	probably null
IGL02024:Tmem184c	APN	8	77604814	missense	probably benign	0.10
IGL02231:Tmem184c	APN	8	77604812	missense	probably damaging	1.00
IGL02736:Tmem184c	APN	8	77597846	missense	probably damaging	1.00
IGL02934:Tmem184c	APN	8	77597820	missense	probably damaging	1.00
IGL03046:Tmem184c	UTSW	8	77599657	nonsense	probably null
R0107:Tmem184c	UTSW	8	77597073	missense	possibly damaging	0.78
R0107:Tmem184c	UTSW	8	77597073	missense	possibly damaging	0.78
R0189:Tmem184c	UTSW	8	77597812	missense	possibly damaging	0.92
R0564:Tmem184c	UTSW	8	77606160	splice site	probably null
R0946:Tmem184c	UTSW	8	77604757	missense	probably damaging	1.00
R1629:Tmem184c	UTSW	8	77602922	missense	possibly damaging	0.87
R1629:Tmem184c	UTSW	8	77606162	critical splice donor site	probably null
R2261:Tmem184c	UTSW	8	77597043	missense	probably damaging	1.00
R2261:Tmem184c	UTSW	8	77597175	missense	probably damaging	0.99
R3805:Tmem184c	UTSW	8	77596875	missense	unknown
R5418:Tmem184c	UTSW	8	77597820	missense	probably damaging	1.00
R5716:Tmem184c	UTSW	8	77606407	missense	possibly damaging	0.90
R5934:Tmem184c	UTSW	8	77604723	nonsense	probably null
R5951:Tmem184c	UTSW	8	77598662	splice site	probably null
R6150:Tmem184c	UTSW	8	77596440	missense	probably benign	0.04
R7206:Tmem184c	UTSW	8	77596577	missense	possibly damaging	0.46
R7387:Tmem184c	UTSW	8	77597930	nonsense	probably null
R7899:Tmem184c	UTSW	8	77597811	missense	probably damaging	1.00
R7959:Tmem184c	UTSW	8	77602903	missense	possibly damaging	0.94
R8100:Tmem184c	UTSW	8	77604782	missense	possibly damaging	0.92
R8246:Tmem184c	UTSW	8	77610185	missense	probably damaging	1.00
R9800:Tmem184c	UTSW	8	77596458	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGTAGGTGCCAATTCCCAAG -3'
(R):5'- GGCCTTGGTATATCCCAAAATTG -3'

Sequencing Primer
(F):5'- GCATACAATGATAAACTTGCATGAGC -3'
(R):5'- TGCAATATACGTGGATACCTGG -3'

Posted On

2014-12-29