Mutagenetix > Incidental Mutation

Incidental Mutation 'R2261:Tmem184c'

243800

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

040261-MU

Accession Numbers

Essential gene?

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

Stock #

R2261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77597175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 353 (T353A)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034030
AA Change: T353A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: T353A

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

Meta Mutation Damage Score

0.1067

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,288	M1384L	probably benign	Het
Ahdc1	A	G	4: 133,063,163	T572A	unknown	Het
Arhgap31	T	A	16: 38,609,277	Q412L	probably damaging	Het
Arsi	T	C	18: 60,916,665	Y207H	probably damaging	Het
Bco1	T	C	8: 117,133,025	L489S	probably damaging	Het
Cacna1g	T	A	11: 94,457,135	H709L	probably benign	Het
Cacna1h	T	C	17: 25,433,165	T2A	possibly damaging	Het
Casz1	G	T	4: 148,929,099	R40L	probably damaging	Het
Cdh23	A	G	10: 60,317,128	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,211,958	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,016,559	M142K	probably damaging	Het
Cfap69	C	A	5: 5,596,018	V561F	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnajc3	A	G	14: 118,960,820	Q118R	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Fam184a	A	G	10: 53,647,570		probably null	Het
Fanca	A	G	8: 123,289,359		probably null	Het
Flt3	G	A	5: 147,348,063	P748L	probably benign	Het
Gbp2b	G	A	3: 142,606,735	S293N	probably benign	Het
Gbp8	T	C	5: 105,016,133	Q433R	possibly damaging	Het
Gm12874	G	A	4: 122,593,740		noncoding transcript	Het
Golgb1	T	A	16: 36,893,360	F234L	probably damaging	Het
Gpr65	A	T	12: 98,275,235	N49I	probably damaging	Het
Grip1	G	A	10: 119,985,584	V385M	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mast4	A	G	13: 102,798,207		probably benign	Het
Mia3	A	G	1: 183,334,793	Y295H	probably benign	Het
Morc3	T	A	16: 93,853,221		probably benign	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Npy2r	A	G	3: 82,541,039	V30A	possibly damaging	Het
Nsd2	A	T	5: 33,885,527	Q1045L	probably damaging	Het
Olfr1168	T	A	2: 88,185,621	I248N	probably damaging	Het
Olfr574	T	C	7: 102,949,257	F254S	probably damaging	Het
Otub1	T	A	19: 7,199,496		probably null	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Pdgfra	T	C	5: 75,185,523	V778A	probably benign	Het
Plekhm2	C	T	4: 141,642,732	E29K	probably damaging	Het
Ralgapa2	T	C	2: 146,342,683	N1468S	probably damaging	Het
Rnf111	T	C	9: 70,476,391	S87G	probably benign	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,478,975	D109N	probably damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc20a1	A	G	2: 129,206,474	R260G	possibly damaging	Het
Slk	T	C	19: 47,637,352	I1090T	probably damaging	Het
Spr-ps1	G	T	6: 85,155,963		noncoding transcript	Het
Ssh1	T	C	5: 113,942,703	S867G	possibly damaging	Het
St18	T	A	1: 6,845,572	C814S	probably damaging	Het
Stmn2	T	C	3: 8,541,895	F25S	probably damaging	Het
Taar3	A	G	10: 23,950,155	I200V	probably benign	Het
Tuba1c	A	G	15: 99,037,876	H406R	probably damaging	Het
Ubr4	T	C	4: 139,413,462	S1231P	probably damaging	Het
Ubr5	A	T	15: 37,988,284	D2143E	probably damaging	Het
Vmn2r6	T	C	3: 64,556,669	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Zfp37	A	T	4: 62,191,636	L397Q	probably damaging	Het
Zmym2	G	A	14: 56,928,262	E681K	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
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'- TGGGCTCTGTGAAGAAATAGTG -3'
(R):5'- TCCTGCCATGGCTTTCAGTAG -3'

Sequencing Primer
(F):5'- GCTCTGTGAAGAAATAGTGTGTCC -3'
(R):5'- ATAAAGAGATCTGACGCCCTCTTCTG -3'

Posted On

2014-10-16