Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03046:Tmem184c'

391862

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

IGL03046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 77599657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 260 (W260*)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034030
AA Change: W260*

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: W260*

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: ENSMUST00000152168

SMART Domains

Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617

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

0.9755

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,150	L279Q	possibly damaging	Het
A2m	T	A	6: 121,659,323	M717K	probably benign	Het
Acad12	C	A	5: 121,609,966	V130L	probably benign	Het
Cdca2	T	C	14: 67,700,022		probably benign	Het
Cfap100	T	A	6: 90,412,350		probably null	Het
Cfap43	T	A	19: 47,815,863	E298V	probably damaging	Het
Cic	C	T	7: 25,291,075	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,604,338	D611G	probably benign	Het
Daglb	C	T	5: 143,501,193	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,803,281	I438K	probably benign	Het
Ddx5	C	A	11: 106,785,045	R273M	probably damaging	Het
Eepd1	C	T	9: 25,482,685	L82F	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Exoc6	T	C	19: 37,593,769		probably null	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Foxs1	T	C	2: 152,932,564	T190A	probably benign	Het
Gje1	A	G	10: 14,716,630	L136P	probably damaging	Het
Hdac11	A	G	6: 91,168,845	T176A	probably benign	Het
Hhip	C	A	8: 79,972,338	V700L	probably damaging	Het
Hps5	T	C	7: 46,777,039		probably benign	Het
Itgb1bp1	T	C	12: 21,279,435	S13G	unknown	Het
Kcna1	A	T	6: 126,642,185	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,082,406	V6M	probably damaging	Het
Klhl6	T	C	16: 19,982,889	I39V	probably benign	Het
Lpcat4	C	A	2: 112,241,989		silent	Het
Ltn1	A	T	16: 87,405,621	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,287,983	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,292,128		probably null	Het
Mtnr1b	T	C	9: 15,862,763	I333M	probably benign	Het
Muc5ac	G	T	7: 141,795,213	C463F	probably benign	Het
Mycbpap	G	T	11: 94,505,717	T99N	possibly damaging	Het
Myo7a	C	T	7: 98,079,327	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,790,960	H311R	probably damaging	Het
Nepro	T	A	16: 44,732,146		probably benign	Het
Nop56	A	T	2: 130,275,569		probably benign	Het
Nup210	A	G	6: 91,018,996		probably benign	Het
Olfr1426	A	G	19: 12,088,027	V255A	probably damaging	Het
Olfr843	T	A	9: 19,249,145	I85F	probably damaging	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pkhd1	T	G	1: 20,537,365	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,328,412	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,129,027		probably benign	Het
Prss43	C	G	9: 110,830,981	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,695,157	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,734,902	V131A	probably benign	Het
Rtp1	A	T	16: 23,429,294	K39M	probably benign	Het
Slc1a6	A	G	10: 78,800,174	I358V	probably benign	Het
Slc25a15	T	C	8: 22,395,710		probably benign	Het
Slc43a1	G	A	2: 84,854,553		probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Spock3	T	G	8: 63,348,984		probably null	Het
Tbc1d7	T	C	13: 43,154,686		probably null	Het
Tmem8	A	T	17: 26,119,440		probably null	Het
Trnau1ap	A	G	4: 132,311,941	Y265H	probably damaging	Het
Usp25	T	C	16: 77,074,866	F363S	probably damaging	Het
Vcl	T	C	14: 21,022,017	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,210,732	M292K	probably benign	Het
Xpc	G	T	6: 91,510,481	A89E	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
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
R2919:Tmem184c	UTSW	8	77604647	missense	probably damaging	1.00
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'- ACAGCTTGTAAATAATGGCCTG -3'
(R):5'- CTTCGGCAGTTCTGTGACTATC -3'

Sequencing Primer
(F):5'- AACTACGGTTGCTCTAGAACTTGC -3'
(R):5'- GTGACTATCTTCCTACAGCAGAATG -3'

Posted On

2016-06-07