Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Tmem184c'

427852

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

042986-MU

Accession Numbers

Essential gene?

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

Stock #

R5418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77597820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 347 (V347A)

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: V347A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: V347A

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

0.2353

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,326,136	Y227H	probably damaging	Het
4930568D16Rik	A	G	2: 35,354,726	S205P	probably damaging	Het
9530077C05Rik	G	T	9: 22,431,770	R187L	probably damaging	Het
Abcc1	T	C	16: 14,461,132	V1102A	probably benign	Het
Acad8	A	T	9: 26,985,557	M202K	probably damaging	Het
Acoxl	T	A	2: 127,877,802	M161K	probably benign	Het
Adamts4	T	A	1: 171,252,574	V35E	probably damaging	Het
Add2	A	G	6: 86,110,912	S614G	probably benign	Het
Adgrv1	T	A	13: 81,419,308	I5249L	probably benign	Het
Agps	A	G	2: 75,858,904	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,755,602		noncoding transcript	Het
Ankrd24	T	A	10: 81,644,942		probably benign	Het
Bcl9l	A	G	9: 44,505,436	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,649,146	Y232C	probably damaging	Het
Bptf	A	G	11: 107,111,294	Y331H	probably damaging	Het
Ccr10	C	T	11: 101,174,078	V209M	probably benign	Het
Cflar	A	T	1: 58,752,651	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931		probably benign	Het
Crlf2	A	G	5: 109,557,033	V104A	probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,066,755		probably null	Het
Dmxl2	A	G	9: 54,374,651		probably null	Het
Dnah17	C	A	11: 118,094,984	E1422D	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Efcab11	A	G	12: 99,855,618	L80S	possibly damaging	Het
Emc8	G	A	8: 120,658,603	T130M	probably damaging	Het
Epha6	C	A	16: 60,424,835	A334S	possibly damaging	Het
Erc2	A	G	14: 27,966,510	M196V	probably benign	Het
Etnk2	T	C	1: 133,373,257	I254T	probably damaging	Het
Fam120b	C	T	17: 15,401,799	T13M	probably damaging	Het
Fam234b	A	G	6: 135,226,968	K423E	probably benign	Het
Fcgbp	G	A	7: 28,085,313	G266D	probably damaging	Het
Fndc4	A	T	5: 31,294,634	S146R	probably benign	Het
Frmd3	G	A	4: 74,161,698		probably null	Het
Glrx2	C	A	1: 143,739,708	S16R	possibly damaging	Het
Gm26526	T	G	7: 39,588,934		noncoding transcript	Het
Hc	C	T	2: 35,008,183		probably null	Het
Herc2	T	C	7: 56,137,565	C1695R	probably damaging	Het
Hic1	A	G	11: 75,166,599		probably null	Het
Igkv4-92	A	T	6: 68,755,580	V5E	possibly damaging	Het
Irs1	G	A	1: 82,288,770	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,284	Y143*	probably null	Het
Klb	A	G	5: 65,383,470	N969D	probably benign	Het
Klra6	T	A	6: 130,013,430	L239F	probably damaging	Het
Lhx6	A	G	2: 36,087,366		probably null	Het
Lrrc34	G	A	3: 30,642,774	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,743,817	K321*	probably null	Het
Mapk14	T	C	17: 28,741,843	V196A	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,269,959	L711P	probably damaging	Het
Mylk	T	C	16: 34,912,230	S627P	probably benign	Het
Nbea	A	T	3: 55,645,989	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,648,039	V153A	probably damaging	Het
Olfr1252	T	C	2: 89,721,999	I37M	probably benign	Het
Pax6	A	T	2: 105,691,565	D175V	probably benign	Het
Piezo1	A	G	8: 122,486,780	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,310,162	V404A	probably benign	Het
Plxnb2	A	G	15: 89,166,491	Y421H	probably benign	Het
Prkdc	T	G	16: 15,795,097	V3173G	probably benign	Het
Prss40	A	T	1: 34,560,759	I49N	probably benign	Het
Prx	T	A	7: 27,517,274	V400E	probably damaging	Het
Rbm11	A	C	16: 75,596,535	T40P	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Sema3f	A	G	9: 107,692,621	Y70H	probably damaging	Het
Senp6	G	A	9: 80,121,869	E505K	possibly damaging	Het
Slc25a3	T	C	10: 91,119,536	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280	S572T	probably benign	Het
Smarcal1	C	T	1: 72,598,909	P501S	probably benign	Het
Sox7	C	T	14: 63,947,947	T144M	probably benign	Het
Taar1	T	C	10: 23,921,316	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,427,683	F46L	probably damaging	Het
Tpcn2	C	T	7: 145,278,781	E113K	probably damaging	Het
Vmn1r232	T	A	17: 20,914,116	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,694,153	T660I	probably damaging	Het
Zdhhc3	A	G	9: 123,080,391	M234T	probably damaging	Het
Zfp960	T	A	17: 17,087,543	L173H	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
R2919:Tmem184c	UTSW	8	77604647	missense	probably damaging	1.00
R3805:Tmem184c	UTSW	8	77596875	missense	unknown
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'- ACTACTGAAAGCCATGGCAGG -3'
(R):5'- GCAAAAGAAGTGGCTTGTCATG -3'

Sequencing Primer
(F):5'- ACCCACGTATTTGAGCTGAG -3'
(R):5'- CAAAAGAAGTGGCTTGTCATGTTTTG -3'

Posted On

2016-09-01