Mutagenetix > Incidental Mutation

Incidental Mutation 'R7959:Tmem184c'

650006

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7959 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77602903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 176 (V176A)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034030
AA Change: V176A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: V176A

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: ENSMUST00000141202

SMART Domains

Protein: ENSMUSP00000120041
Gene: ENSMUSG00000031617

Domain	Start	End	E-Value	Type
transmembrane domain	54	76	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152168
AA Change: V216A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617
AA Change: V216A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	A	T	2: 28,462,357	N131K	probably damaging	Het
Ahnak	T	C	19: 9,010,649	V3099A	possibly damaging	Het
Apba2	A	G	7: 64,695,823	M254V	probably benign	Het
Bbs7	C	T	3: 36,602,936	D248N	probably damaging	Het
Cldn8	A	G	16: 88,562,941	V32A	probably damaging	Het
Col4a4	G	T	1: 82,507,059	P496T	unknown	Het
Cyp27a1	T	A	1: 74,737,077	N417K	probably benign	Het
Dnah7a	T	C	1: 53,643,462	D283G	probably benign	Het
Fmn1	T	A	2: 113,365,622	Y556N	unknown	Het
Fsip2	T	C	2: 82,985,776	I3951T	possibly damaging	Het
Gigyf1	C	T	5: 137,524,319	T773I	probably damaging	Het
Gm11639	A	G	11: 105,042,801	K4878E	probably damaging	Het
Gm8251	T	C	1: 44,057,568	I1457V	probably benign	Het
Heatr6	A	T	11: 83,781,363	K1066*	probably null	Het
Ikbkap	A	T	4: 56,774,737	M746K	probably damaging	Het
Mdfic	T	C	6: 15,741,071	S142P	possibly damaging	Het
Mettl16	A	G	11: 74,817,026	I389V	probably benign	Het
Mia3	T	C	1: 183,344,339	Y57C	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Nup160	T	C	2: 90,713,895		probably null	Het
Olfr12	T	A	1: 92,620,307	C134S	probably damaging	Het
Olfr138	A	G	17: 38,275,711	*313W	probably null	Het
Olfr20	T	C	11: 73,353,918	L55P	probably damaging	Het
Olfr628	T	A	7: 103,732,808	V294D	probably damaging	Het
Olfr904	T	A	9: 38,464,915	S291R	probably damaging	Het
Plcxd1	A	T	5: 110,103,556	I333F	probably damaging	Het
Plxna2	AT	A	1: 194,793,864		probably null	Het
Plxna2	C	A	1: 194,810,962	S1848R	probably damaging	Het
Pnpla2	T	A	7: 141,457,493	D136E	probably benign	Het
Polr1b	T	A	2: 129,108,094	F245I	probably damaging	Het
Prmt9	T	A	8: 77,560,965	I245N	probably damaging	Het
Serhl	A	T	15: 83,101,872	D62V	probably damaging	Het
Sh3rf3	A	T	10: 59,007,103	D297V	probably damaging	Het
Spata13	C	T	14: 60,756,230	R1044*	probably null	Het
Strbp	G	A	2: 37,640,894	T116I	probably benign	Het
Supt5	T	C	7: 28,315,799	D977G	probably benign	Het
Uhrf2	A	G	19: 30,086,260	N541S	probably damaging	Het
Vmn2r24	T	A	6: 123,778,990	F7Y	possibly damaging	Het
Vmn2r27	T	C	6: 124,192,081	R697G	probably benign	Het
Zfp994	A	G	17: 22,202,780	V18A	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
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
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'- GACCAGCCTTTCACTGTTAATC -3'
(R):5'- TTTCAAAATGGGCTTCAGGC -3'

Sequencing Primer
(F):5'- CTACCATTAGTTGCCATGAACGTGG -3'
(R):5'- GGCTTCAGGCTCCCTTG -3'

Posted On

2020-09-15