Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Tmem184c'

46071

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

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

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78322611-78337327 bp(-) (GRCm39)

Type of Mutation

splice site (203 bp from exon)

DNA Base Change (assembly)

A to T at 78332789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120041 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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 null
Transcript: ENSMUST00000141202

SMART Domains

Protein: ENSMUSP00000120041
Gene: ENSMUSG00000031617

Domain	Start	End	E-Value	Type
transmembrane domain	54	76	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

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,180,681 (GRCm39)	V127A	probably damaging	Het
Alox12	T	A	11: 70,143,662 (GRCm39)	D202V	probably damaging	Het
Ankib1	A	G	5: 3,779,655 (GRCm39)	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,609,593 (GRCm39)	M18K	probably damaging	Het
Atad2	C	A	15: 57,989,229 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,932,238 (GRCm39)		probably benign	Het
Ccdc126	T	C	6: 49,311,076 (GRCm39)	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,831,618 (GRCm39)	D617V	probably damaging	Het
Cep135	G	A	5: 76,763,557 (GRCm39)	E516K	probably damaging	Het
Cep135	G	T	5: 76,786,796 (GRCm39)	M1081I	probably benign	Het
Col6a3	A	C	1: 90,735,456 (GRCm39)	V731G	probably damaging	Het
Cstdc6	A	T	16: 36,143,346 (GRCm39)	Y34*	probably null	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dip2b	C	A	15: 100,060,600 (GRCm39)	Y258*	probably null	Het
Dnah17	A	G	11: 117,973,807 (GRCm39)	V1900A	probably damaging	Het
Dpysl2	A	T	14: 67,042,895 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,139,432 (GRCm39)	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,000,506 (GRCm39)	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,111,308 (GRCm39)	V154D	probably benign	Het
Frem2	A	G	3: 53,563,530 (GRCm39)	F326L	probably damaging	Het
Gm4922	T	A	10: 18,659,813 (GRCm39)	N303I	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,523,523 (GRCm39)	V214M	probably damaging	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Mcc	A	G	18: 44,601,574 (GRCm39)	L410P	probably damaging	Het
Mfn2	A	G	4: 147,967,712 (GRCm39)	F452S	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Micu2	A	G	14: 58,156,831 (GRCm39)	F335L	possibly damaging	Het
Mpp3	T	G	11: 101,896,173 (GRCm39)	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,489,714 (GRCm39)	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,448,585 (GRCm39)	I263V	probably benign	Het
Or52p2	T	C	7: 102,237,738 (GRCm39)	I71V	probably benign	Het
Or6c76	T	G	10: 129,612,005 (GRCm39)	V74G	probably damaging	Het
Pdk1	G	A	2: 71,710,383 (GRCm39)	W113*	probably null	Het
Phaf1	T	A	8: 105,966,603 (GRCm39)		probably benign	Het
Phxr4	A	T	9: 13,342,993 (GRCm39)		probably benign	Het
Rad51ap2	T	A	12: 11,507,897 (GRCm39)	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,829,670 (GRCm39)	I187K	possibly damaging	Het
Rps27	A	G	3: 90,120,230 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,286,099 (GRCm39)		probably null	Het
Sh2d3c	G	A	2: 32,643,064 (GRCm39)	C749Y	probably damaging	Het
Siah2	T	C	3: 58,583,656 (GRCm39)	D210G	probably benign	Het
Smap2	G	A	4: 120,834,174 (GRCm39)	P155S	probably benign	Het
Snrk	C	T	9: 121,995,610 (GRCm39)	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,233,964 (GRCm39)		probably benign	Het
Tmem132d	C	T	5: 127,861,842 (GRCm39)	E760K	probably damaging	Het
Tmem235	A	T	11: 117,751,674 (GRCm39)	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,629,175 (GRCm39)		probably null	Het
Top1	G	A	2: 160,556,185 (GRCm39)	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,908 (GRCm39)	N527D	probably damaging	Het
Upf3a	A	G	8: 13,845,656 (GRCm39)	K252E	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCTGAACCCATGCTTCAGTTTC -3'
(R):5'- TGCTAACCATACCCGTGTCATTGTG -3'

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

Posted On

2013-06-11