Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Tmem129'

659279

Institutional Source

Beutler Lab

Gene Symbol

Tmem129

Ensembl Gene

ENSMUSG00000019295

Gene Name

transmembrane protein 129

Synonyms

MMRRC Submission

067891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33653216-33658416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33655576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 143 (S143P)

Ref Sequence

ENSEMBL: ENSMUSP00000019439 (fasta)

Gene Model

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

AlphaFold

Q8K304

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019439
AA Change: S143P

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019439
Gene: ENSMUSG00000019295
AA Change: S143P

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

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

probably benign
Transcript: ENSMUST00000151081

Predicted Effect

probably benign
Transcript: ENSMUST00000152847

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,190,550 (GRCm38)	E579V	probably damaging	Het
Adgrv1	T	A	13: 81,536,372 (GRCm38)	D1790V	probably damaging	Het
Avl9	T	A	6: 56,728,659 (GRCm38)	Y175*	probably null	Het
Bmp2	A	T	2: 133,561,282 (GRCm38)	D251V	probably damaging	Het
Camsap2	T	A	1: 136,277,205 (GRCm38)	K1191N	probably damaging	Het
Ccdc102a	A	C	8: 94,906,056 (GRCm38)	F431C	probably benign	Het
Ccdc186	T	C	19: 56,810,245 (GRCm38)	I270M	probably damaging	Het
Copb2	A	G	9: 98,587,619 (GRCm38)	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,856,167 (GRCm38)	R22K	probably benign	Het
Ddx50	A	G	10: 62,642,849 (GRCm38)	F186S	probably damaging	Het
Dhx38	T	C	8: 109,553,380 (GRCm38)	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,673,936 (GRCm38)	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,816,100 (GRCm38)	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,239,598 (GRCm38)	F107S	probably damaging	Het
Dock8	T	A	19: 25,130,506 (GRCm38)	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,899,069 (GRCm38)	T526K	probably damaging	Het
Gm30302	A	G	13: 49,786,632 (GRCm38)	V534A	possibly damaging	Het
Gnas	T	C	2: 174,298,601 (GRCm38)	S188P	possibly damaging	Het
Gpam	T	C	19: 55,096,239 (GRCm38)	D36G	probably benign	Het
Gucy2e	C	A	11: 69,236,353 (GRCm38)	R98L	probably benign	Het
Hmcn2	C	A	2: 31,391,076 (GRCm38)	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,333,634 (GRCm38)		probably benign	Het
Icos	A	G	1: 60,993,942 (GRCm38)	D100G	probably damaging	Het
Ifi203	A	T	1: 173,928,906 (GRCm38)		probably benign	Het
Ift46	T	A	9: 44,783,983 (GRCm38)	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,815,730 (GRCm38)		probably null	Het
Lgr5	T	C	10: 115,452,402 (GRCm38)	Y779C	probably damaging	Het
Ltk	G	T	2: 119,758,107 (GRCm38)	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 24,901,678 (GRCm38)	C852*	probably null	Het
Mmp27	A	G	9: 7,579,775 (GRCm38)	M443V	probably benign	Het
Muc6	T	C	7: 141,647,917 (GRCm38)	D769G	probably benign	Het
Myo7b	T	C	18: 31,977,089 (GRCm38)	I1107V	probably benign	Het
Nebl	T	A	2: 17,350,709 (GRCm38)	H211L	probably benign	Het
Oaz3	T	A	3: 94,436,435 (GRCm38)	K40N	probably damaging	Het
Olfr1111	T	A	2: 87,150,038 (GRCm38)	T208S	probably benign	Het
Olfr860	T	A	9: 19,846,552 (GRCm38)	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,229,909 (GRCm38)	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,797,858 (GRCm38)	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,180 (GRCm38)		probably benign	Het
Rab3ip	A	G	10: 116,910,154 (GRCm38)	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914 (GRCm38)		probably benign	Het
Sec62	G	T	3: 30,818,812 (GRCm38)	R348L	unknown	Het
Sema5b	C	T	16: 35,651,609 (GRCm38)	A479V	possibly damaging	Het
Shank3	T	C	15: 89,532,215 (GRCm38)	I222T	probably damaging	Het
Sp1	C	T	15: 102,408,529 (GRCm38)	T154I	possibly damaging	Het
Srek1	A	G	13: 103,752,449 (GRCm38)		probably benign	Het
Tmem202	A	T	9: 59,519,646 (GRCm38)	C194S	probably benign	Het
Tmprss15	A	T	16: 79,087,515 (GRCm38)	I93K	probably damaging	Het
Ttn	A	G	2: 76,776,309 (GRCm38)	Y16340H	probably damaging	Het
Uck1	C	A	2: 32,260,141 (GRCm38)		probably benign	Het

Other mutations in Tmem129

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03048:Tmem129	UTSW	5	33,655,467 (GRCm38)	missense	possibly damaging	0.90
R0336:Tmem129	UTSW	5	33,655,602 (GRCm38)	missense	probably damaging	1.00
R0972:Tmem129	UTSW	5	33,654,768 (GRCm38)	missense	possibly damaging	0.63
R1559:Tmem129	UTSW	5	33,657,756 (GRCm38)	splice site	probably null
R1869:Tmem129	UTSW	5	33,654,499 (GRCm38)	missense	probably damaging	1.00
R1967:Tmem129	UTSW	5	33,655,321 (GRCm38)	critical splice donor site	probably null
R2050:Tmem129	UTSW	5	33,657,782 (GRCm38)	missense	probably benign	0.00
R5208:Tmem129	UTSW	5	33,655,506 (GRCm38)	missense	probably damaging	1.00
R5802:Tmem129	UTSW	5	33,657,716 (GRCm38)	missense	probably damaging	0.98
R7744:Tmem129	UTSW	5	33,654,388 (GRCm38)	missense	probably damaging	1.00
R8859:Tmem129	UTSW	5	33,654,493 (GRCm38)	missense	probably benign	0.12
R9495:Tmem129	UTSW	5	33,657,778 (GRCm38)	missense	probably benign	0.02
R9514:Tmem129	UTSW	5	33,657,778 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGCTGCACAGGTAGGTTTG -3'
(R):5'- TGCAGCCTCAGAAAAGCAG -3'

Sequencing Primer
(F):5'- TGAGTCTGGCGAGAGATCATGC -3'
(R):5'- AGCTCTACTCCCCAGGTCAG -3'

Posted On

2021-01-18