Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02418:Tpgs1'

292543

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: 0.147) question?

Stock #

IGL02418

Quality Score

Status

Chromosome

Chromosomal Location

79505273-79511961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79505289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 16 (V16M)

Ref Sequence

ENSEMBL: ENSMUSP00000020552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020552] [ENSMUST00000020554] [ENSMUST00000217748]

AlphaFold

Q99MS8

Predicted Effect

probably benign
Transcript: ENSMUST00000020552
AA Change: V16M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308
AA Change: V16M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020554

SMART Domains

Protein: ENSMUSP00000020554
Gene: ENSMUSG00000020310

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:ICAM_N	21	114	7.3e-8	PFAM
Pfam:Adhes-Ig_like	110	220	2.4e-57	PFAM
Blast:IG_like	278	354	3e-14	BLAST
transmembrane domain	366	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217748

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,424,479 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,156,730 (GRCm39)	V436A	probably benign	Het
Afap1l1	T	C	18: 61,885,648 (GRCm39)	D156G	probably damaging	Het
Arhgap21	G	A	2: 20,885,711 (GRCm39)	R489C	probably damaging	Het
Arhgap26	G	A	18: 39,490,620 (GRCm39)		probably benign	Het
Bbs5	T	G	2: 69,485,849 (GRCm39)	*89G	probably null	Het
Ceacam5	A	T	7: 17,493,359 (GRCm39)	Y794F	possibly damaging	Het
Ces3b	T	C	8: 105,812,279 (GRCm39)	V176A	probably damaging	Het
Cfi	A	G	3: 129,642,461 (GRCm39)	H105R	probably benign	Het
Chat	C	T	14: 32,168,906 (GRCm39)	V210I	possibly damaging	Het
Chd1l	A	G	3: 97,488,415 (GRCm39)	S534P	probably benign	Het
Cyb5rl	T	C	4: 106,928,182 (GRCm39)	L106P	probably damaging	Het
Cyp21a1	A	G	17: 35,023,162 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,495,679 (GRCm39)	C1436R	probably damaging	Het
Flg2	T	A	3: 93,108,361 (GRCm39)	F130I	probably benign	Het
Fryl	T	A	5: 73,267,519 (GRCm39)		probably benign	Het
Galnt10	T	C	11: 57,671,994 (GRCm39)	V428A	probably benign	Het
Ganab	A	G	19: 8,888,433 (GRCm39)	D496G	probably null	Het
Gapvd1	T	C	2: 34,620,530 (GRCm39)	T44A	probably benign	Het
Gm17093	T	A	14: 44,758,185 (GRCm39)	M122K	unknown	Het
Gm5356	A	T	8: 89,914,064 (GRCm39)		noncoding transcript	Het
Gmppa	G	T	1: 75,415,664 (GRCm39)	G126C	probably damaging	Het
Il23r	T	C	6: 67,467,656 (GRCm39)	H37R	possibly damaging	Het
Itga11	A	G	9: 62,651,914 (GRCm39)	I349V	probably benign	Het
Lrrc42	A	T	4: 107,100,533 (GRCm39)	Y159*	probably null	Het
Naa16	C	A	14: 79,620,806 (GRCm39)	R57L	probably damaging	Het
Ntmt2	A	T	1: 163,530,725 (GRCm39)	V238E	probably damaging	Het
Or8g4	A	G	9: 39,661,787 (GRCm39)	Y35C	probably damaging	Het
Oxtr	A	T	6: 112,454,200 (GRCm39)	H21Q	probably damaging	Het
Paqr7	A	G	4: 134,234,284 (GRCm39)	Y47C	probably damaging	Het
Paxbp1	A	C	16: 90,831,000 (GRCm39)	C459G	probably damaging	Het
Pnp2	C	T	14: 51,201,293 (GRCm39)	R222C	possibly damaging	Het
Rtl1	T	C	12: 109,556,883 (GRCm39)	D1652G	probably damaging	Het
Saxo5	T	A	8: 3,526,080 (GRCm39)	F78I	probably damaging	Het
Shoc1	A	T	4: 59,049,075 (GRCm39)		probably benign	Het
Spata4	C	A	8: 55,062,978 (GRCm39)	N294K	probably benign	Het
Tcp11l2	T	A	10: 84,449,470 (GRCm39)	Y478*	probably null	Het
Tcte1	T	A	17: 45,852,128 (GRCm39)	S454T	probably benign	Het
Thsd4	C	T	9: 60,335,598 (GRCm39)	V105I	probably damaging	Het
Tmem117	T	A	15: 94,829,765 (GRCm39)	I200N	probably benign	Het
Ttn	G	T	2: 76,797,447 (GRCm39)	T539K	probably benign	Het
Usp24	A	G	4: 106,293,557 (GRCm39)	S2542G	probably benign	Het
Vmn2r44	A	T	7: 8,380,864 (GRCm39)	L343H	probably damaging	Het
Zmat2	T	A	18: 36,927,392 (GRCm39)	Y21N	probably damaging	Het
Zyx	C	T	6: 42,334,327 (GRCm39)	A517V	probably damaging	Het

Other mutations in Tpgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02303:Tpgs1	APN	10	79,511,322 (GRCm39)	missense	probably damaging	1.00
IGL02357:Tpgs1	APN	10	79,511,593 (GRCm39)	missense	probably benign	0.00
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