Mutagenetix > Incidental Mutation

Incidental Mutation 'R0946:Tmem184c'

82106

Institutional Source

Beutler Lab

Gene Symbol

Tmem184c

Ensembl Gene

ENSMUSG00000031617

Gene Name

transmembrane protein 184C

Synonyms

Tmem34, 8430433H16Rik

MMRRC Submission

039085-MU

Accession Numbers

Essential gene?

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

Stock #

R0946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78322611-78337327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78331386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 121 (V121G)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034030
AA Change: V121G

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

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: V121G

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: V161G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617
AA Change: V161G

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	A	G	14: 34,234,099 (GRCm39)	M64T	unknown	Het
Adamts15	C	T	9: 30,813,493 (GRCm39)	G891R	probably damaging	Het
Adck5	G	A	15: 76,477,486 (GRCm39)	V107I	possibly damaging	Het
Aoc3	G	A	11: 101,223,131 (GRCm39)	V456M	possibly damaging	Het
Apbb1	A	T	7: 105,223,062 (GRCm39)	L183Q	probably benign	Het
Camsap3	A	G	8: 3,654,442 (GRCm39)	H693R	probably benign	Het
Ccdc88a	A	G	11: 29,406,509 (GRCm39)	T414A	probably benign	Het
Cdh17	T	C	4: 11,795,581 (GRCm39)	V387A	probably benign	Het
Coasy	G	T	11: 100,976,696 (GRCm39)	V489F	probably damaging	Het
Ercc6	A	T	14: 32,274,578 (GRCm39)	M574L	probably benign	Het
Esrrb	T	C	12: 86,552,598 (GRCm39)	L180P	probably damaging	Het
Fam83b	A	T	9: 76,398,679 (GRCm39)	V808D	probably damaging	Het
Fat3	C	T	9: 15,909,100 (GRCm39)	V2301I	possibly damaging	Het
Ftdc1	C	A	16: 58,435,075 (GRCm39)	R83S	probably damaging	Het
Hyal4	T	A	6: 24,755,912 (GRCm39)	Y43*	probably null	Het
Hydin	C	A	8: 111,257,685 (GRCm39)	L2372M	probably benign	Het
Lrrc4c	T	C	2: 97,459,809 (GRCm39)	V145A	probably benign	Het
Lypd10	A	G	7: 24,413,167 (GRCm39)	K162R	probably benign	Het
Muc21	A	C	17: 35,929,105 (GRCm39)	S1581A	probably benign	Het
Myh4	A	G	11: 67,142,577 (GRCm39)	I913V	possibly damaging	Het
Nat10	C	T	2: 103,561,719 (GRCm39)	G654D	probably damaging	Het
Nbn	A	T	4: 15,970,719 (GRCm39)		probably null	Het
Nup50l	A	T	6: 96,142,677 (GRCm39)	N122K	possibly damaging	Het
Oas3	T	C	5: 120,907,128 (GRCm39)	Y503C	unknown	Het
Or11g7	C	A	14: 50,691,130 (GRCm39)	T207K	probably benign	Het
Pappa	G	T	4: 65,233,029 (GRCm39)		probably null	Het
Pfas	A	G	11: 68,884,121 (GRCm39)		probably null	Het
Pfas	G	T	11: 68,881,573 (GRCm39)		probably null	Het
Pign	A	T	1: 105,519,422 (GRCm39)	M500K	probably benign	Het
Pkhd1	T	C	1: 20,269,605 (GRCm39)	K3313R	probably benign	Het
Ptk2b	A	G	14: 66,396,047 (GRCm39)	V807A	probably benign	Het
Ptpdc1	C	T	13: 48,740,286 (GRCm39)	E382K	probably damaging	Het
Rfpl4b	A	T	10: 38,696,833 (GRCm39)	I256N	probably benign	Het
Skap1	C	G	11: 96,432,295 (GRCm39)	S88*	probably null	Het
Slc4a2	T	C	5: 24,640,884 (GRCm39)	S742P	probably damaging	Het
Supv3l1	T	C	10: 62,265,599 (GRCm39)	D647G	probably damaging	Het
Tonsl	T	C	15: 76,507,421 (GRCm39)	I118V	probably benign	Het
Top1	T	A	2: 160,554,588 (GRCm39)	Y446*	probably null	Het
Trim37	A	G	11: 87,037,781 (GRCm39)	R172G	probably damaging	Het
Vgll4	C	A	6: 114,867,768 (GRCm39)		probably null	Het
Vgll4	T	A	6: 114,867,769 (GRCm39)		probably null	Het
Vmn1r5	T	G	6: 56,963,150 (GRCm39)	I275S	possibly damaging	Het
Vwde	A	T	6: 13,187,874 (GRCm39)	H584Q	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp282	T	A	6: 47,856,943 (GRCm39)	W59R	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zswim2	T	A	2: 83,754,103 (GRCm39)	T186S	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
R0564:Tmem184c	UTSW	8	78,332,789 (GRCm39)	splice site	probably null
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'- CGGACTTACGCTTACCAACTCTGC -3'
(R):5'- GCTCAGTGATGGAAGACAGTCTTGC -3'

Sequencing Primer
(F):5'- GCTTACCAACTCTGCTTCTGAAAAC -3'
(R):5'- TGTAAGTATGCGACAAGATCCC -3'

Posted On

2013-11-08