Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Tmem184c'

573182

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: 0.183) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77595982-77610698 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 77597930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 310 (Y310*)

Ref Sequence

ENSEMBL: ENSMUSP00000034030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034030
AA Change: Y310*

SMART Domains

Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: Y310*

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: ENSMUST00000152168

SMART Domains

Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,577	Y182H	probably damaging	Het
Abca6	A	G	11: 110,202,420	V1009A	probably benign	Het
Abcg2	A	T	6: 58,689,624	I573F	possibly damaging	Het
Adck1	A	G	12: 88,461,052	T480A	probably benign	Het
Adcy5	T	C	16: 35,272,090	I607T	probably damaging	Het
Add2	A	G	6: 86,086,015	K52E	probably damaging	Het
Arid4a	T	A	12: 71,087,496	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,255,168	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,622,775	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,629,915	L224P	possibly damaging	Het
BC035947	A	G	1: 78,498,461	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,777,178	V17A	unknown	Het
Cad	T	C	5: 31,061,940	Y669H	probably damaging	Het
Ccdc110	A	T	8: 45,942,196	M375L	probably benign	Het
Cdc6	C	T	11: 98,908,216		probably benign	Het
Cdhr4	T	A	9: 107,996,912	Y72*	probably null	Het
Cenpe	T	G	3: 135,247,037	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,922,057	C28W	possibly damaging	Het
Cma2	A	G	14: 55,973,048	N120S	probably benign	Het
Cped1	A	T	6: 22,059,934	I200L	probably benign	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,212,612	Q18*	probably null	Het
Dpp10	T	C	1: 123,341,140	E720G	probably benign	Het
Dus2	G	A	8: 106,045,987	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932	N769S	possibly damaging	Het
Ece1	T	A	4: 137,938,784	I313N	possibly damaging	Het
Ern1	A	T	11: 106,421,952	V201E	probably damaging	Het
Exoc3l	A	G	8: 105,294,973	L141P	probably damaging	Het
Fam168b	G	A	1: 34,819,708	T131M	probably damaging	Het
Fam212a	C	T	9: 107,984,427	R230H	probably damaging	Het
Fez1	T	C	9: 36,867,812	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,138,127	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,314,233	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,914,868	P28S	probably benign	Het
Iqgap1	C	T	7: 80,720,990	V1544I	probably benign	Het
Itga10	A	T	3: 96,652,778	Q536L	probably benign	Het
Itih2	C	T	2: 10,130,508	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,639,781	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,778	S160R	probably benign	Het
Kif11	T	A	19: 37,409,756	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,574,517	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,476,614	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,212,972	T426A	probably damaging	Het
Mcidas	T	C	13: 112,994,088	F40L	probably benign	Het
Med27	T	A	2: 29,413,407	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,132,538	V249A	probably benign	Het
Mllt6	C	A	11: 97,674,600	A592D	probably benign	Het
Mrps5	C	T	2: 127,600,884	T291I	probably damaging	Het
Muc16	T	A	9: 18,641,720	T4426S	probably benign	Het
Myh1	A	T	11: 67,208,889	M542L	probably benign	Het
Nlrp12	G	T	7: 3,241,201	A227D	probably damaging	Het
Nlrp14	T	C	7: 107,183,107	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,266,080	S8G	probably benign	Het
Ntrk2	A	G	13: 58,985,979	K524R	probably damaging	Het
Nup210	C	T	6: 91,021,396		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	T	A	2: 88,526,400	Y272*	probably null	Het
Olfr197	A	T	16: 59,186,336	I49N	probably damaging	Het
Olfr677	T	A	7: 105,057,090	Y281*	probably null	Het
Patl1	A	G	19: 11,933,730	I525M	probably benign	Het
Pcnx3	A	G	19: 5,673,336	L1277P	probably benign	Het
Pelp1	G	A	11: 70,396,599	T461I	probably damaging	Het
Phf20	T	C	2: 156,294,240	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,901,203	Y1193F		Het
Pknox2	G	T	9: 36,957,068		probably benign	Het
Pml	T	C	9: 58,229,894	T541A	probably benign	Het
Prss35	C	T	9: 86,755,921	T248I	probably damaging	Het
Rccd1	T	A	7: 80,320,602	N89I	probably benign	Het
Rcor3	T	C	1: 192,137,524		probably benign	Het
Rreb1	A	G	13: 37,947,064	E16G	unknown	Het
Scgb2b12	T	A	7: 32,326,635	H44L	probably benign	Het
Sec23ip	C	T	7: 128,745,003		probably benign	Het
Sgsm1	A	C	5: 113,263,700	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,902,134	V253A	probably damaging	Het
Spopl	A	T	2: 23,537,509	F204I	probably benign	Het
Sqle	G	A	15: 59,330,754	R519Q	probably benign	Het
Stil	T	G	4: 115,024,036	H592Q	probably benign	Het
Strip1	T	A	3: 107,625,730	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,699,930	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,519,443		probably null	Het
Tmem30c	T	C	16: 57,270,023	N274D	probably benign	Het
Trim30c	T	A	7: 104,390,190	I133F	probably damaging	Het
Vars	C	T	17: 35,004,792	Q228*	probably null	Het
Zdbf2	G	A	1: 63,304,039	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,612,641		probably null	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
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'- CTACTGAAAGCCATGGCAGGAG -3'
(R):5'- ATGCAAAAGAAGTGGCTTGTCATG -3'

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

Posted On

2019-09-13