Mutagenetix > Incidental Mutations

Incidental Mutation 'R5208:Tmem129'

402145

Institutional Source

Beutler Lab

Gene Symbol

Tmem129

Ensembl Gene

ENSMUSG00000019295

Gene Name

transmembrane protein 129

Synonyms

MMRRC Submission

042783-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33653216-33658416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33655506 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 166 (V166E)

Ref Sequence

ENSEMBL: ENSMUSP00000019439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019439] [ENSMUST00000057551] [ENSMUST00000074849] [ENSMUST00000075670] [ENSMUST00000079534] [ENSMUST00000101354] [ENSMUST00000114426] [ENSMUST00000139518] [ENSMUST00000201633] [ENSMUST00000200849] [ENSMUST00000151081] [ENSMUST00000152847]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019439
AA Change: V166E

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

SMART Domains

Protein: ENSMUSP00000019439
Gene: ENSMUSG00000019295
AA Change: V166E

Domain	Start	End	E-Value	Type
Pfam:Tmpp129	17	361	6.8e-146	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057551

SMART Domains

Protein: ENSMUSP00000062930
Gene: ENSMUSG00000004642

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
low complexity region	105	123	N/A	INTRINSIC
Pfam:SLBP_RNA_bind	130	199	2e-32	PFAM
low complexity region	217	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074849

SMART Domains

Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
low complexity region	127	143	N/A	INTRINSIC
internal_repeat_1	144	212	2.67e-29	PROSPERO
internal_repeat_1	240	308	2.67e-29	PROSPERO
Pfam:TACC	435	631	2.6e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075670

SMART Domains

Protein: ENSMUSP00000075093
Gene: ENSMUSG00000004642

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
low complexity region	105	123	N/A	INTRINSIC
Pfam:SLBP_RNA_bind	128	201	6.1e-39	PFAM
low complexity region	217	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079534

SMART Domains

Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
low complexity region	127	143	N/A	INTRINSIC
internal_repeat_1	144	212	2.48e-29	PROSPERO
internal_repeat_1	240	308	2.48e-29	PROSPERO
Pfam:TACC	427	629	2.1e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101354

SMART Domains

Protein: ENSMUSP00000098906
Gene: ENSMUSG00000004642

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:SLBP_RNA_bind	108	180	8.1e-39	PFAM
low complexity region	197	213	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114426

SMART Domains

Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
low complexity region	127	143	N/A	INTRINSIC
internal_repeat_1	144	212	2.48e-29	PROSPERO
internal_repeat_1	240	308	2.48e-29	PROSPERO
Pfam:TACC	427	629	2.1e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125527

SMART Domains

Protein: ENSMUSP00000115390
Gene: ENSMUSG00000019295

Domain	Start	End	E-Value	Type
Pfam:Tmpp129	17	71	1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139453

Predicted Effect

probably benign
Transcript: ENSMUST00000139518

SMART Domains

Protein: ENSMUSP00000144475
Gene: ENSMUSG00000004642

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
low complexity region	105	123	N/A	INTRINSIC
Pfam:SLBP_RNA_bind	130	199	3e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140931

SMART Domains

Protein: ENSMUSP00000114809
Gene: ENSMUSG00000019295

Domain	Start	End	E-Value	Type
Pfam:Tmpp129	17	71	1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148153

Predicted Effect

probably benign
Transcript: ENSMUST00000201633

SMART Domains

Protein: ENSMUSP00000144567
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
internal_repeat_1	34	102	8.87e-21	PROSPERO
internal_repeat_1	130	198	8.87e-21	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000200849

SMART Domains

Protein: ENSMUSP00000144662
Gene: ENSMUSG00000019295

Domain	Start	End	E-Value	Type
Pfam:Tmpp129	1	73	1.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151081

Predicted Effect

probably benign
Transcript: ENSMUST00000152847

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	A	7: 140,298,036	A977D	probably benign	Het
Aadacl4	A	T	4: 144,617,828	N58I	probably benign	Het
Adgra3	T	C	5: 50,011,515	D163G	probably damaging	Het
Alcam	C	A	16: 52,295,048	E236*	probably null	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,642,026		probably null	Het
Arl4a	A	T	12: 40,036,745	M1K	probably null	Het
Asic4	A	G	1: 75,451,226	D132G	probably damaging	Het
Bbs12	T	C	3: 37,320,273	I290T	probably benign	Het
BC024139	A	G	15: 76,124,665	S290P	probably benign	Het
Bmp6	G	A	13: 38,469,697	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,769,433		probably null	Het
Cdc42bpg	G	A	19: 6,321,720	R1343K	probably benign	Het
Cdk18	A	T	1: 132,117,480		probably null	Het
Cenpf	A	T	1: 189,671,046		probably null	Het
Cfhr1	A	T	1: 139,556,330		probably null	Het
Chn2	A	T	6: 54,295,801	I201F	probably damaging	Het
Chrdl2	A	G	7: 100,023,922	D175G	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah3	C	G	7: 120,032,638	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,802,423	Y372*	probably null	Het
Eftud2	G	A	11: 102,841,185	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,801,533	S1170A	probably benign	Het
Gdpd4	A	C	7: 98,014,911	K572Q	probably benign	Het
Gm7356	T	C	17: 14,001,194	E191G	probably damaging	Het
Gm8674	A	T	13: 49,901,921		noncoding transcript	Het
Gulp1	T	G	1: 44,781,039	H235Q	probably benign	Het
Hormad1	T	C	3: 95,578,107	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,751,317	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,927,701	Y194F	possibly damaging	Het
Lars	A	C	18: 42,217,557	S896A	probably benign	Het
Lonp1	A	G	17: 56,617,793	V538A	probably damaging	Het
Map3k14	A	T	11: 103,239,146	L315Q	probably damaging	Het
Met	T	A	6: 17,526,423	Y500*	probably null	Het
Mga	T	G	2: 119,947,981	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,455,881	I152L	probably benign	Het
Mthfsd	G	A	8: 121,108,319		probably benign	Het
Mup4	A	G	4: 59,958,119	F150L	probably damaging	Het
Mybph	T	A	1: 134,193,535	V11D	probably benign	Het
Olfr1278	A	T	2: 111,292,601	E111V	probably damaging	Het
Olfr668	A	G	7: 104,925,726	F13L	probably benign	Het
Olfr988	T	A	2: 85,353,798	I43F	probably benign	Het
Pde4a	T	C	9: 21,203,558		probably null	Het
Pex2	C	T	3: 5,561,368	R127H	probably benign	Het
Pgap3	A	G	11: 98,398,048	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,018,484	V14A	probably benign	Het
Psg25	A	T	7: 18,526,535	I146N	probably benign	Het
Ptprn2	A	G	12: 116,858,928	Y209C	probably damaging	Het
Sema4c	T	A	1: 36,550,326	D573V	probably damaging	Het
Setx	A	T	2: 29,166,367	I2192F	possibly damaging	Het
Sp4	A	G	12: 118,299,546	L255P	probably damaging	Het
Spaca7	A	G	8: 12,586,456	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,746,595	I390L	possibly damaging	Het
Tars2	A	G	3: 95,747,593	W128R	probably damaging	Het
Tll1	G	A	8: 64,051,493	T623M	probably damaging	Het
Tmem200a	T	A	10: 25,994,153	I73F	probably benign	Het
Tnks1bp1	T	C	2: 85,070,632	M1561T	probably damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Zfat	A	T	15: 68,180,721	I401N	probably damaging	Het
Zfp142	A	T	1: 74,570,868	V1153E	probably benign	Het
Zwilch	T	C	9: 64,152,923	I354V	probably benign	Het

Other mutations in Tmem129

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03048:Tmem129	UTSW	5	33655467	missense	possibly damaging	0.90
R0336:Tmem129	UTSW	5	33655602	missense	probably damaging	1.00
R0972:Tmem129	UTSW	5	33654768	missense	possibly damaging	0.63
R1559:Tmem129	UTSW	5	33657756	splice site	probably null
R1869:Tmem129	UTSW	5	33654499	missense	probably damaging	1.00
R1967:Tmem129	UTSW	5	33655321	critical splice donor site	probably null
R2050:Tmem129	UTSW	5	33657782	missense	probably benign	0.00
R5802:Tmem129	UTSW	5	33657716	missense	probably damaging	0.98
R7744:Tmem129	UTSW	5	33654388	missense	probably damaging	1.00
R8537:Tmem129	UTSW	5	33655576	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- CGAATATCAAAGGGCTGTGTG -3'
(R):5'- AGAAGCCTGGCAACTCTTCC -3'

Sequencing Primer
(F):5'- GCTGTGTGCCAGGGCTG -3'
(R):5'- AAGCCTGGCAACTCTTCCTTCTC -3'

Posted On

2016-07-22