Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Tmem129'

659279

Institutional Source

Beutler Lab

Gene Symbol

Tmem129

Ensembl Gene

ENSMUSG00000019295

Gene Name

transmembrane protein 129

Synonyms

0610039G24Rik, 2410015J15Rik

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

33810560-33815321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33812920 bp (GRCm39)

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
Adgrv1	T	A	13: 81,684,491 (GRCm39)	D1790V	probably damaging	Het
Aopep	A	T	13: 63,338,364 (GRCm39)	E579V	probably damaging	Het
Avl9	T	A	6: 56,705,644 (GRCm39)	Y175*	probably null	Het
Bmp2	A	T	2: 133,403,202 (GRCm39)	D251V	probably damaging	Het
Camsap2	T	A	1: 136,204,943 (GRCm39)	K1191N	probably damaging	Het
Ccdc102a	A	C	8: 95,632,684 (GRCm39)	F431C	probably benign	Het
Ccdc186	T	C	19: 56,798,677 (GRCm39)	I270M	probably damaging	Het
Copb2	A	G	9: 98,469,672 (GRCm39)	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,728,016 (GRCm39)	R22K	probably benign	Het
Ddx50	A	G	10: 62,478,628 (GRCm39)	F186S	probably damaging	Het
Dhx38	T	C	8: 110,280,012 (GRCm39)	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,651,300 (GRCm39)	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,893,164 (GRCm39)	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,216,242 (GRCm39)	F107S	probably damaging	Het
Dock8	T	A	19: 25,107,870 (GRCm39)	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,835,887 (GRCm39)	T526K	probably damaging	Het
Gnas	T	C	2: 174,140,394 (GRCm39)	S188P	possibly damaging	Het
Gpam	T	C	19: 55,084,671 (GRCm39)	D36G	probably benign	Het
Gucy2e	C	A	11: 69,127,179 (GRCm39)	R98L	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,161,199 (GRCm39)		probably benign	Het
Icos	A	G	1: 61,033,101 (GRCm39)	D100G	probably damaging	Het
Ifi203	A	T	1: 173,756,472 (GRCm39)		probably benign	Het
Ift46	T	A	9: 44,695,280 (GRCm39)	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,804,169 (GRCm39)		probably null	Het
Lgr5	T	C	10: 115,288,307 (GRCm39)	Y779C	probably damaging	Het
Ltk	G	T	2: 119,588,588 (GRCm39)	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 25,120,652 (GRCm39)	C852*	probably null	Het
Mmp27	A	G	9: 7,579,776 (GRCm39)	M443V	probably benign	Het
Muc6	T	C	7: 141,234,184 (GRCm39)	D769G	probably benign	Het
Myo7b	T	C	18: 32,110,142 (GRCm39)	I1107V	probably benign	Het
Nebl	T	A	2: 17,355,520 (GRCm39)	H211L	probably benign	Het
Oaz3	T	A	3: 94,343,742 (GRCm39)	K40N	probably damaging	Het
Or5as1	T	A	2: 86,980,382 (GRCm39)	T208S	probably benign	Het
Or7e169	T	A	9: 19,757,848 (GRCm39)	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,058,977 (GRCm39)	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,503,619 (GRCm39)	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,266 (GRCm39)		probably benign	Het
Rab3ip	A	G	10: 116,746,059 (GRCm39)	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Sec62	G	T	3: 30,872,961 (GRCm39)	R348L	unknown	Het
Sema5b	C	T	16: 35,471,979 (GRCm39)	A479V	possibly damaging	Het
Shank3	T	C	15: 89,416,418 (GRCm39)	I222T	probably damaging	Het
Sp1	C	T	15: 102,316,964 (GRCm39)	T154I	possibly damaging	Het
Spata31e1	A	G	13: 49,940,108 (GRCm39)	V534A	possibly damaging	Het
Srek1	A	G	13: 103,888,957 (GRCm39)		probably benign	Het
Tmem202	A	T	9: 59,426,929 (GRCm39)	C194S	probably benign	Het
Tmprss15	A	T	16: 78,884,403 (GRCm39)	I93K	probably damaging	Het
Ttn	A	G	2: 76,606,653 (GRCm39)	Y16340H	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het

Other mutations in Tmem129

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03048:Tmem129	UTSW	5	33,812,811 (GRCm39)	missense	possibly damaging	0.90
R0336:Tmem129	UTSW	5	33,812,946 (GRCm39)	missense	probably damaging	1.00
R0972:Tmem129	UTSW	5	33,812,112 (GRCm39)	missense	possibly damaging	0.63
R1559:Tmem129	UTSW	5	33,815,100 (GRCm39)	splice site	probably null
R1869:Tmem129	UTSW	5	33,811,843 (GRCm39)	missense	probably damaging	1.00
R1967:Tmem129	UTSW	5	33,812,665 (GRCm39)	critical splice donor site	probably null
R2050:Tmem129	UTSW	5	33,815,126 (GRCm39)	missense	probably benign	0.00
R5208:Tmem129	UTSW	5	33,812,850 (GRCm39)	missense	probably damaging	1.00
R5802:Tmem129	UTSW	5	33,815,060 (GRCm39)	missense	probably damaging	0.98
R7744:Tmem129	UTSW	5	33,811,732 (GRCm39)	missense	probably damaging	1.00
R8859:Tmem129	UTSW	5	33,811,837 (GRCm39)	missense	probably benign	0.12
R9495:Tmem129	UTSW	5	33,815,122 (GRCm39)	missense	probably benign	0.02
R9514:Tmem129	UTSW	5	33,815,122 (GRCm39)	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