Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02325:Tppp'

288431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tppp

Ensembl Gene

ENSMUSG00000021573

Gene Name

tubulin polymerization promoting protein

Synonyms

2900041A09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02325

Quality Score

Status

Chromosome

Chromosomal Location

74157538-74183872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74169295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 12 (A12T)

Ref Sequence

ENSEMBL: ENSMUSP00000022057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022057]

AlphaFold

Q7TQD2

Predicted Effect

probably benign
Transcript: ENSMUST00000022057
AA Change: A12T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022057
Gene: ENSMUSG00000021573
AA Change: A12T

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
Pfam:p25-alpha	51	212	3.7e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140217

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,013 (GRCm39)	I233N	probably damaging	Het
Agtpbp1	C	T	13: 59,648,303 (GRCm39)	G393S	probably benign	Het
Ahctf1	T	C	1: 179,603,580 (GRCm39)	D822G	probably benign	Het
Alpk1	T	C	3: 127,473,552 (GRCm39)	N817S	probably benign	Het
Aoah	G	A	13: 21,101,295 (GRCm39)	E272K	probably damaging	Het
Aoc1	A	G	6: 48,882,829 (GRCm39)	D235G	possibly damaging	Het
Ccdc186	G	T	19: 56,801,788 (GRCm39)	Q110K	probably benign	Het
Celsr2	G	T	3: 108,320,187 (GRCm39)	T875K	probably damaging	Het
Chdh	T	C	14: 29,754,782 (GRCm39)	V264A	probably benign	Het
Col15a1	A	G	4: 47,289,364 (GRCm39)	T854A	probably damaging	Het
Cuedc1	A	T	11: 88,060,999 (GRCm39)	E114V	probably null	Het
Ddx23	A	T	15: 98,545,074 (GRCm39)	D677E	possibly damaging	Het
Ddx24	A	G	12: 103,382,525 (GRCm39)	V640A	probably damaging	Het
Ddx25	T	C	9: 35,465,804 (GRCm39)		probably benign	Het
Ddx43	T	C	9: 78,309,772 (GRCm39)		probably benign	Het
Diaph1	T	C	18: 37,986,653 (GRCm39)	K1111E	probably damaging	Het
Dnah9	T	C	11: 65,725,043 (GRCm39)	D4370G	probably damaging	Het
Eef1e1	A	T	13: 38,840,012 (GRCm39)		probably benign	Het
Egfem1	T	C	3: 29,206,066 (GRCm39)	I101T	probably benign	Het
Gpr142	G	T	11: 114,696,947 (GRCm39)	L164F	probably damaging	Het
Gtf2h5	T	A	17: 6,131,106 (GRCm39)		probably null	Het
Hap1	T	A	11: 100,245,190 (GRCm39)		probably null	Het
Hemgn	T	G	4: 46,396,085 (GRCm39)	I384L	probably benign	Het
Ints3	A	T	3: 90,311,349 (GRCm39)	H419Q	probably damaging	Het
Itgb2	T	C	10: 77,383,026 (GRCm39)	L132P	probably damaging	Het
Krtap29-1	C	T	11: 99,869,159 (GRCm39)	V241M	probably damaging	Het
Lrguk	A	G	6: 34,106,114 (GRCm39)	E713G	probably benign	Het
Lrrk2	G	T	15: 91,610,511 (GRCm39)		probably null	Het
Nlrp14	A	G	7: 106,781,523 (GRCm39)	D240G	possibly damaging	Het
Omt2b	A	T	9: 78,235,854 (GRCm39)	T60S	possibly damaging	Het
Or10ag52	G	T	2: 87,043,850 (GRCm39)	G205W	probably damaging	Het
Pcdhb2	A	G	18: 37,429,733 (GRCm39)	N569D	possibly damaging	Het
Plcd3	G	A	11: 102,971,447 (GRCm39)	R66*	probably null	Het
Polr1a	G	A	6: 71,897,641 (GRCm39)	R212Q	probably benign	Het
Pou3f2	A	T	4: 22,487,020 (GRCm39)	L371Q	probably damaging	Het
Rnf207	A	T	4: 152,396,237 (GRCm39)	I509N	probably damaging	Het
Sema5a	T	G	15: 32,686,977 (GRCm39)	S1030A	possibly damaging	Het
Shank1	C	A	7: 43,976,504 (GRCm39)	S534*	probably null	Het
Sntg2	T	C	12: 30,245,542 (GRCm39)	T495A	probably benign	Het
Spem2	A	T	11: 69,707,789 (GRCm39)	V392D	probably benign	Het
Srrm2	T	A	17: 24,029,453 (GRCm39)		probably benign	Het
Tbc1d8	A	T	1: 39,433,321 (GRCm39)	F287Y	probably damaging	Het
Tgfbi	A	G	13: 56,779,043 (GRCm39)	D422G	probably benign	Het
Usp46	C	T	5: 74,197,689 (GRCm39)		probably null	Het
Zdhhc12	C	T	2: 29,981,448 (GRCm39)	V205I	probably damaging	Het

Other mutations in Tppp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03244:Tppp	APN	13	74,169,535 (GRCm39)	missense	possibly damaging	0.54
R0013:Tppp	UTSW	13	74,169,479 (GRCm39)	missense	possibly damaging	0.86
R0013:Tppp	UTSW	13	74,169,479 (GRCm39)	missense	possibly damaging	0.86
R0426:Tppp	UTSW	13	74,169,430 (GRCm39)	missense	probably damaging	1.00
R0579:Tppp	UTSW	13	74,169,352 (GRCm39)	missense	probably benign	0.04
R1894:Tppp	UTSW	13	74,169,326 (GRCm39)	missense	possibly damaging	0.83
R3870:Tppp	UTSW	13	74,178,891 (GRCm39)	missense	probably benign	0.01
R4655:Tppp	UTSW	13	74,178,983 (GRCm39)	missense	probably benign	0.03
R4895:Tppp	UTSW	13	74,178,996 (GRCm39)	nonsense	probably null
R9312:Tppp	UTSW	13	74,179,377 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16