Mutagenetix > Incidental Mutations

Incidental Mutation 'R1629:Tmem184c'

172680

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

039666-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 77606162 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114463 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000034030

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617

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 null
Transcript: ENSMUST00000034030

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617

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

noncoding transcript
Transcript: ENSMUST00000139140

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 null
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

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 58,954,619	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC005624	T	C	2: 30,974,008	E191G	probably damaging	Het
Cbx2	A	G	11: 119,028,980	D457G	probably damaging	Het
Ccdc110	A	G	8: 45,942,127	K352E	probably benign	Het
Cdk14	A	T	5: 5,103,807	H183Q	probably benign	Het
Cfap58	A	G	19: 47,941,339	T80A	probably benign	Het
Cftr	C	T	6: 18,226,106	T351I	probably damaging	Het
Col27a1	A	G	4: 63,329,863		probably benign	Het
Cp	T	A	3: 19,966,450		probably null	Het
Cpne8	A	T	15: 90,571,972	V196E	probably benign	Het
Dmxl1	T	G	18: 49,859,286		probably null	Het
Dnm2	T	A	9: 21,504,458	L642Q	probably damaging	Het
Dock2	G	T	11: 34,262,480		probably null	Het
Dock9	A	G	14: 121,543,574	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,824,701	V53A	probably damaging	Het
Fam208b	T	C	13: 3,574,121	H1943R	possibly damaging	Het
Fbl	G	T	7: 28,174,787		probably benign	Het
Fbn2	T	C	18: 58,026,538	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,610,974	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,356,860	F348I	probably benign	Het
Khdc1a	T	A	1: 21,350,897	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,464,186	T270A	probably benign	Het
Lama1	T	C	17: 67,805,428	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,613,495	E337G	possibly damaging	Het
Macf1	C	A	4: 123,508,415	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641	V209F	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh9	G	A	15: 77,764,401	R1725W	probably damaging	Het
Nbea	A	T	3: 56,002,891	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,563,986	A496T	probably benign	Het
Nufip2	A	G	11: 77,693,008	T583A	probably benign	Het
Olfr1033	A	G	2: 86,041,422	T36A	probably damaging	Het
Ppig	C	A	2: 69,735,873	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,019,759	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,669,799	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,064,988	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Slc1a7	A	G	4: 108,008,143	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,067,107	D221G	probably benign	Het
Smn1	C	A	13: 100,127,896	T45N	probably damaging	Het
Son	T	C	16: 91,657,622	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,492	Y45N	possibly damaging	Het
Vmn1r59	C	T	7: 5,454,467	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,713,427	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,067,383	S493P	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGCTGAACCCATGCTTCAGTTTCTG -3'
(R):5'- GCTGCTAACCATACCCGTGTCATTG -3'

Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
(R):5'- CATTGTGGGGAATCCTTCAAC -3'

Posted On

2014-04-24