Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Tmem184c'

489194

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

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

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77596440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 598 (Q598K)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034030
AA Change: Q598K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: Q598K

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,213,508	T74A	probably benign	Het
Arhgef1	T	C	7: 24,919,357		probably null	Het
Art1	C	G	7: 102,107,087	R162G	probably benign	Het
Boll	T	A	1: 55,270,653	I280F	possibly damaging	Het
Cep44	T	C	8: 56,539,805	E258G	probably benign	Het
Cutc	T	A	19: 43,759,889	V75E	probably damaging	Het
Dtx1	T	C	5: 120,681,363	K590R	probably damaging	Het
Eps8	A	T	6: 137,517,174	D295E	probably damaging	Het
Erc2	C	A	14: 28,141,291	S491Y	probably damaging	Het
F2rl3	G	T	8: 72,762,738	A198S	probably benign	Het
Fam83b	G	A	9: 76,492,357	T488M	probably damaging	Het
Fitm2	A	G	2: 163,470,074	L73P	probably damaging	Het
Fxyd1	T	C	7: 31,054,803		probably null	Het
Gm17186	T	C	14: 51,680,726		noncoding transcript	Het
Hivep3	C	A	4: 119,734,077	S94*	probably null	Het
Ifna1	T	A	4: 88,850,112	M9K	probably null	Het
Igsf11	G	A	16: 39,023,349	E275K	probably damaging	Het
Itga1	G	A	13: 114,968,233	L1086F	probably benign	Het
Itgav	T	C	2: 83,776,436	S374P	probably benign	Het
Jmy	A	T	13: 93,441,133	N842K	probably benign	Het
Kcnh6	G	A	11: 106,020,731	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,751,639	I823N	probably damaging	Het
Kif26b	T	C	1: 178,915,546	L1069P	probably damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,588,477		probably benign	Het
Map10	G	A	8: 125,671,589	D574N	probably damaging	Het
Mau2	A	T	8: 70,019,837	H565Q	probably benign	Het
Myb	A	G	10: 21,141,769	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,552,050	G15V	probably null	Het
Olfr370	G	A	8: 83,541,153	C3Y	probably benign	Het
Olfr399	A	C	11: 74,054,319	S147A	probably benign	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Olfr867	A	T	9: 20,054,874	N78K	probably benign	Het
Otog	A	G	7: 46,264,059	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,269,564	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,737,139		probably null	Het
Pomk	A	G	8: 25,983,256	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Serpina1e	A	G	12: 103,950,807	V201A	probably benign	Het
Six5	C	T	7: 19,097,521	P646S	probably benign	Het
Slc17a9	A	G	2: 180,737,628	I298V	probably benign	Het
Slc37a2	G	T	9: 37,238,347	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,245,618	F525I	probably benign	Het
Slit2	A	T	5: 48,304,174	D1504V	probably damaging	Het
Srcap	T	A	7: 127,534,828	M907K	probably damaging	Het
Sspo	T	C	6: 48,486,379	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,435,722	N376K	possibly damaging	Het
Tekt3	A	T	11: 63,094,657	T430S	possibly damaging	Het
Tex2	A	T	11: 106,567,080	V508D	probably benign	Het
Ube2v1	G	A	2: 167,617,954	R42*	probably null	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vangl1	T	C	3: 102,184,519	T84A	probably damaging	Het
Vgll3	T	A	16: 65,828,178		probably null	Het
Vmn1r61	T	A	7: 5,610,679	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,291,295	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,786,556	D727E	probably damaging	Het
Vps18	T	A	2: 119,297,592	Y965*	probably null	Het
Zfp521	A	T	18: 13,844,078	C1093S	probably damaging	Het
Zfp971	A	C	2: 178,033,454	H282P	probably benign	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
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
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'- CCAGAACATTAGATTCATGCAGTGG -3'
(R):5'- TCATGATTAACATCCCAGAAGAGC -3'

Sequencing Primer
(F):5'- TGTTTAAGAAAGTCAAAGCCTAGG -3'
(R):5'- CCAGAAGAGCAACAAAAACTTATTG -3'

Posted On

2017-10-10