Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02303:Tpgs1'

287474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpgs1

Ensembl Gene

ENSMUSG00000020308

Gene Name

tubulin polyglutamylase complex subunit 1

Synonyms

Gm16517, Gtrgeo22

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL02303

Quality Score

Status

Chromosome

Chromosomal Location

79505273-79511961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79511322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 155 (Y155H)

Ref Sequence

ENSEMBL: ENSMUSP00000020552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020552]

AlphaFold

Q99MS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020552
AA Change: Y155H

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

SMART Domains

Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308
AA Change: Y155H

Domain	Start	End	E-Value	Type
low complexity region	94	114	N/A	INTRINSIC
Blast:UBCc	125	156	9e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220175

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a gene trapped allele are sterile due to abnormal development of the spermatid flagellum. Adult males display a striking deficit in intermale aggression and reduced body fat, not due to an altered resting metabolic rate or hypophagia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,045,376 (GRCm39)	F319S	probably damaging	Het
Ap3b1	A	G	13: 94,664,827 (GRCm39)	D922G	unknown	Het
Bhlhe41	A	T	6: 145,809,882 (GRCm39)	H107Q	probably damaging	Het
Csmd2	C	A	4: 128,262,801 (GRCm39)	H662Q	probably benign	Het
Dnah8	T	C	17: 30,932,021 (GRCm39)	V1463A	probably benign	Het
Ebf3	A	T	7: 136,911,094 (GRCm39)	V140E	probably benign	Het
Havcr2	T	A	11: 46,370,108 (GRCm39)		probably benign	Het
Hexb	G	A	13: 97,313,401 (GRCm39)	A485V	probably damaging	Het
Igkv5-37	T	A	6: 69,940,473 (GRCm39)	Q57L	probably damaging	Het
Ipo5	T	A	14: 121,154,795 (GRCm39)	S40T	probably benign	Het
Kcnj8	A	G	6: 142,515,837 (GRCm39)	M90T	probably benign	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Kmt2c	A	C	5: 25,515,155 (GRCm39)	L2896R	probably damaging	Het
Ldlrap1	A	T	4: 134,484,706 (GRCm39)	I96N	probably damaging	Het
Leo1	A	G	9: 75,353,281 (GRCm39)		probably benign	Het
Mbnl2	T	C	14: 120,642,059 (GRCm39)	M341T	probably benign	Het
Nfatc2	G	A	2: 168,348,821 (GRCm39)	R669*	probably null	Het
Nhlrc2	T	A	19: 56,563,280 (GRCm39)	V293E	probably damaging	Het
Or1e17	T	C	11: 73,831,276 (GRCm39)	F68S	possibly damaging	Het
Or2at1	A	G	7: 99,417,179 (GRCm39)	D270G	possibly damaging	Het
Or51ag1	A	T	7: 103,155,295 (GRCm39)	M286K	probably benign	Het
Or51ai2	A	G	7: 103,586,770 (GRCm39)	Q61R	possibly damaging	Het
Otoa	T	A	7: 120,732,147 (GRCm39)		probably null	Het
Pcnt	T	C	10: 76,278,393 (GRCm39)		probably benign	Het
Recql4	G	T	15: 76,592,771 (GRCm39)	Q307K	possibly damaging	Het
Sp140	T	A	1: 85,570,730 (GRCm39)	Y453*	probably null	Het
Sspo	G	A	6: 48,461,639 (GRCm39)	V3600I	possibly damaging	Het
Sybu	T	C	15: 44,536,619 (GRCm39)	E441G	probably benign	Het
Syne3	A	T	12: 104,929,553 (GRCm39)	H222Q	probably damaging	Het
Tef	T	C	15: 81,705,496 (GRCm39)	V173A	probably benign	Het
Tlcd1	A	G	11: 78,071,160 (GRCm39)		probably null	Het
Tmod4	C	A	3: 95,032,953 (GRCm39)	Q30K	probably benign	Het
Trib3	G	A	2: 152,185,070 (GRCm39)	P60S	probably benign	Het
Ttn	T	A	2: 76,560,550 (GRCm39)	T20957S	probably damaging	Het
Vars1	T	C	17: 35,234,460 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,852,763 (GRCm39)		probably benign	Het
Zc3h4	T	C	7: 16,168,002 (GRCm39)	S704P	unknown	Het
Zfp644	G	A	5: 106,785,180 (GRCm39)	R456W	probably damaging	Het

Other mutations in Tpgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02357:Tpgs1	APN	10	79,511,593 (GRCm39)	missense	probably benign	0.00
IGL02418:Tpgs1	APN	10	79,505,289 (GRCm39)	missense	probably benign	0.02
IGL02568:Tpgs1	APN	10	79,505,238 (GRCm39)	unclassified	probably benign
R0220:Tpgs1	UTSW	10	79,511,271 (GRCm39)	missense	possibly damaging	0.75
R0243:Tpgs1	UTSW	10	79,511,700 (GRCm39)	missense	probably benign	0.02
R0558:Tpgs1	UTSW	10	79,511,616 (GRCm39)	missense	probably damaging	0.99
R1507:Tpgs1	UTSW	10	79,511,620 (GRCm39)	missense	probably damaging	1.00
R1732:Tpgs1	UTSW	10	79,511,428 (GRCm39)	missense	possibly damaging	0.85
R1800:Tpgs1	UTSW	10	79,511,344 (GRCm39)	missense	possibly damaging	0.94
R2011:Tpgs1	UTSW	10	79,511,722 (GRCm39)	missense	probably damaging	1.00
R2973:Tpgs1	UTSW	10	79,505,449 (GRCm39)	missense	probably damaging	1.00
R2974:Tpgs1	UTSW	10	79,505,449 (GRCm39)	missense	probably damaging	1.00
R4035:Tpgs1	UTSW	10	79,505,199 (GRCm39)	splice site	probably null
R4690:Tpgs1	UTSW	10	79,511,235 (GRCm39)	missense	probably benign	0.00
R4751:Tpgs1	UTSW	10	79,511,454 (GRCm39)	missense	possibly damaging	0.60
R4995:Tpgs1	UTSW	10	79,505,325 (GRCm39)	missense	probably benign	0.07
R5682:Tpgs1	UTSW	10	79,511,421 (GRCm39)	missense	probably damaging	1.00
R5860:Tpgs1	UTSW	10	79,505,545 (GRCm39)	missense	probably damaging	1.00
R6275:Tpgs1	UTSW	10	79,511,354 (GRCm39)	missense	probably benign	0.02
R7423:Tpgs1	UTSW	10	79,511,655 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16