Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Tmem127'

307852

Institutional Source

Beutler Lab

Gene Symbol

Tmem127

Ensembl Gene

ENSMUSG00000034850

Gene Name

transmembrane protein 127

Synonyms

2310003P10Rik

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3950 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

127089868-127103028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127090577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 31 (L31P)

Ref Sequence

ENSEMBL: ENSMUSP00000133701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000035871] [ENSMUST00000172636] [ENSMUST00000174030] [ENSMUST00000174288] [ENSMUST00000174503] [ENSMUST00000174863]

AlphaFold

Q8BGP5

Predicted Effect

probably benign
Transcript: ENSMUST00000003759

SMART Domains

Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	178	6.04e-8	SMART
WD40	183	222	9.22e-13	SMART
WD40	240	280	8.04e-4	SMART
WD40	291	332	5.26e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000035871
AA Change: L31P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
AA Change: L31P

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

noncoding transcript
Transcript: ENSMUST00000143575

Predicted Effect

probably benign
Transcript: ENSMUST00000172636

SMART Domains

Protein: ENSMUSP00000134199
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174030

SMART Domains

Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	178	6.04e-8	SMART
WD40	183	222	9.22e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174288

SMART Domains

Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174503
AA Change: L31P

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

SMART Domains

Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850
AA Change: L31P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174863

SMART Domains

Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	176	1.38e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Appbp2	A	G	11: 85,085,532 (GRCm39)	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,021,013 (GRCm39)	Y291C	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,588,384 (GRCm39)	A72S	probably benign	Het
C3	T	C	17: 57,532,286 (GRCm39)	R178G	probably benign	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Col11a1	T	C	3: 113,915,094 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,849,207 (GRCm39)	F294L	possibly damaging	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061 (GRCm39)	Y276*	probably null	Het
Eea1	A	T	10: 95,877,996 (GRCm39)	N1389I	probably damaging	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,419 (GRCm39)	K219*	probably null	Het
Fsd1	G	A	17: 56,302,517 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,027,221 (GRCm39)	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,763,454 (GRCm39)	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,296,524 (GRCm39)	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,393,260 (GRCm39)	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,296,441 (GRCm39)	P609T	probably damaging	Het
Klhl18	T	A	9: 110,257,970 (GRCm39)	Y490F	probably damaging	Het
Ky	C	T	9: 102,419,627 (GRCm39)	Q545*	probably null	Het
L1td1	T	C	4: 98,625,590 (GRCm39)	L595P	probably benign	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Mug1	T	A	6: 121,855,489 (GRCm39)	V941E	probably damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Ninl	A	T	2: 150,794,408 (GRCm39)	I740K	possibly damaging	Het
Npepl1	A	G	2: 173,962,906 (GRCm39)	N431D	probably damaging	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Pacs2	T	C	12: 113,024,733 (GRCm39)	S408P	probably damaging	Het
Pard6b	C	T	2: 167,941,114 (GRCm39)	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,849,568 (GRCm39)	E525G	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pcx	C	T	19: 4,667,995 (GRCm39)	H506Y	probably benign	Het
Pdhx	A	G	2: 102,865,586 (GRCm39)	S199P	probably damaging	Het
Pdia2	C	A	17: 26,416,590 (GRCm39)		probably null	Het
Pif1	C	A	9: 65,499,116 (GRCm39)	N445K	probably damaging	Het
Prickle4	T	C	17: 47,999,507 (GRCm39)	K349E	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,742,670 (GRCm39)	M173K	probably damaging	Het
Rb1	A	G	14: 73,500,102 (GRCm39)	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,590,877 (GRCm39)	K154E	probably damaging	Het
Ros1	C	T	10: 51,942,484 (GRCm39)	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,689,484 (GRCm39)	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,652,708 (GRCm39)	V318I	probably benign	Het
Srek1	G	A	13: 103,881,403 (GRCm39)	R408W	unknown	Het
Synrg	C	T	11: 83,880,641 (GRCm39)	T444I	probably damaging	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Tmprss15	T	A	16: 78,870,074 (GRCm39)	T190S	probably benign	Het
Trip10	T	A	17: 57,560,411 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,696,292 (GRCm39)	Y31C	probably damaging	Het
Unc80	A	T	1: 66,661,729 (GRCm39)	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,569,599 (GRCm39)	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,203,301 (GRCm39)	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,979,403 (GRCm39)	S337P	probably damaging	Het
Zswim9	T	A	7: 12,995,503 (GRCm39)	T218S	possibly 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
R0765:Tmem127	UTSW	2	127,099,069 (GRCm39)	missense	probably damaging	0.96
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
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'- CAGTCCTTTGGTCTGTGCTCAG -3'
(R):5'- AGCCAGCCTCATATCTGTTCTG -3'

Sequencing Primer
(F):5'- GTTGCTCTCCACCTGGGTACAG -3'
(R):5'- CCTCAAGCCAAGAGAGCAGG -3'

Posted On

2015-04-17