Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Tmem127'

72592

Institutional Source

Beutler Lab

Gene Symbol

Tmem127

Ensembl Gene

ENSMUSG00000034850

Gene Name

transmembrane protein 127

Synonyms

2310003P10Rik

MMRRC Submission

038945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127089868-127103028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127099069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 201 (T201K)

Ref Sequence

ENSEMBL: ENSMUSP00000035434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035871] [ENSMUST00000174288] [ENSMUST00000174503]

AlphaFold

Q8BGP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035871
AA Change: T201K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
AA Change: T201K

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Blast:Sec63	37	179	3e-98	BLAST
low complexity region	202	216	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174288
AA Change: T117K

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850
AA Change: T117K

Domain	Start	End	E-Value	Type
Blast:Sec63	1	95	1e-60	BLAST
low complexity region	118	132	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000174503

SMART Domains

Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Blast:Sec63	37	124	8e-37	BLAST

Meta Mutation Damage Score

0.2902

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]
PHENOTYPE: Lysosomal activity and endosomal fusion mediated by Rab5 were affected in mouse embryonic fibroblasts of homozygous null mutants [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Cnbp	C	A	6: 87,822,155 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Mybph	T	C	1: 134,125,234 (GRCm39)	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,350,505 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or4c52	G	A	2: 89,846,014 (GRCm39)	V247I	probably benign	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,818,734 (GRCm39)	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	probably damaging	Het

Other mutations in Tmem127

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Tmem127	APN	2	127,099,006 (GRCm39)	missense	probably damaging	1.00
IGL02108:Tmem127	APN	2	127,099,026 (GRCm39)	missense	probably damaging	0.98
IGL02556:Tmem127	APN	2	127,097,922 (GRCm39)	splice site	probably null
R0070:Tmem127	UTSW	2	127,098,979 (GRCm39)	missense	probably damaging	1.00
R0070:Tmem127	UTSW	2	127,098,979 (GRCm39)	missense	probably damaging	1.00
R1696:Tmem127	UTSW	2	127,090,627 (GRCm39)	missense	probably damaging	0.98
R1827:Tmem127	UTSW	2	127,098,094 (GRCm39)	splice site	probably null
R1828:Tmem127	UTSW	2	127,098,094 (GRCm39)	splice site	probably null
R3498:Tmem127	UTSW	2	127,098,040 (GRCm39)	missense	probably benign	0.27
R3684:Tmem127	UTSW	2	127,090,652 (GRCm39)	missense	possibly damaging	0.72
R3950:Tmem127	UTSW	2	127,090,577 (GRCm39)	missense	probably damaging	1.00
R5337:Tmem127	UTSW	2	127,098,065 (GRCm39)	missense	probably damaging	0.98
R8831:Tmem127	UTSW	2	127,098,979 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCAAATCCTTTGAGACCTGGTG -3'
(R):5'- ATCCCTGGTTGGAAGGAGCTAGTG -3'

Sequencing Primer
(F):5'- AGTCCTACAGTGTGCTACCG -3'
(R):5'- CTAAAGGCAGAGTGTCTCCTG -3'

Posted On

2013-09-30