Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02020:Tubgcp3'

183939

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tubgcp3

Ensembl Gene

ENSMUSG00000000759

Gene Name

tubulin, gamma complex component 3

Synonyms

GCP3, Spc98p

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02020

Quality Score

Status

Chromosome

Chromosomal Location

12664277-12722141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12687780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 588 (T588A)

Ref Sequence

ENSEMBL: ENSMUSP00000000776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000776] [ENSMUST00000164774]

AlphaFold

P58854

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000776
AA Change: T588A

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: T588A

Domain	Start	End	E-Value	Type
low complexity region	152	171	N/A	INTRINSIC
Pfam:Spc97_Spc98	251	761	9.5e-124	PFAM
coiled coil region	787	814	N/A	INTRINSIC
low complexity region	821	827	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164611

Predicted Effect

probably benign
Transcript: ENSMUST00000164774

SMART Domains

Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759

Domain	Start	End	E-Value	Type
low complexity region	152	171	N/A	INTRINSIC
Pfam:Spc97_Spc98	251	361	3.5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168657

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,659,577 (GRCm39)	Q711L	probably benign	Het
Atg9b	A	C	5: 24,596,056 (GRCm39)	N205K	possibly damaging	Het
Brinp3	T	C	1: 146,777,865 (GRCm39)		probably benign	Het
Cdh20	A	G	1: 110,066,078 (GRCm39)	Y784C	probably damaging	Het
Csmd2	T	A	4: 128,453,672 (GRCm39)	D142E	probably damaging	Het
Dscam	A	G	16: 96,517,269 (GRCm39)	L880P	probably damaging	Het
Gm14496	A	G	2: 181,637,882 (GRCm39)	T319A	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Ighv1-7	A	G	12: 114,502,345 (GRCm39)	C41R	probably damaging	Het
Itga3	C	T	11: 94,948,216 (GRCm39)	V539I	probably benign	Het
Kif13a	T	A	13: 46,947,495 (GRCm39)	I830F	probably benign	Het
Mphosph9	T	C	5: 124,397,013 (GRCm39)	N1110S	probably damaging	Het
Or5m11b	A	G	2: 85,805,579 (GRCm39)		probably benign	Het
Pdia3	G	A	2: 121,266,900 (GRCm39)		probably null	Het
Phpt1	T	C	2: 25,464,221 (GRCm39)	I87M	probably damaging	Het
Psd3	T	C	8: 68,426,822 (GRCm39)		probably benign	Het
Ranbp2	A	G	10: 58,315,769 (GRCm39)	E2163G	probably damaging	Het
Ranbp6	T	C	19: 29,787,176 (GRCm39)	I1059V	probably benign	Het
Runx2	C	T	17: 44,969,486 (GRCm39)	G253D	probably damaging	Het
S100a5	A	G	3: 90,517,121 (GRCm39)		probably benign	Het
Skint1	T	A	4: 111,882,724 (GRCm39)	M256K	probably benign	Het
Slc9a3	C	T	13: 74,306,967 (GRCm39)	A364V	probably damaging	Het
Srsf3-ps	C	A	11: 98,516,335 (GRCm39)	V13L	probably damaging	Het
Trip11	C	T	12: 101,850,572 (GRCm39)	R879Q	probably damaging	Het
Vmn2r100	T	A	17: 19,725,200 (GRCm39)	V43E	possibly damaging	Het
Washc4	T	C	10: 83,400,336 (GRCm39)	S421P	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wwp2	G	A	8: 108,283,127 (GRCm39)	R354Q	probably damaging	Het
Zfp804b	T	A	5: 6,819,118 (GRCm39)	Q1315L	probably damaging	Het

Other mutations in Tubgcp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Tubgcp3	APN	8	12,671,809 (GRCm39)	missense	probably benign	0.00
IGL00583:Tubgcp3	APN	8	12,671,906 (GRCm39)	nonsense	probably null
IGL01289:Tubgcp3	APN	8	12,689,625 (GRCm39)	missense	probably damaging	1.00
IGL01578:Tubgcp3	APN	8	12,711,297 (GRCm39)	splice site	probably benign
IGL01716:Tubgcp3	APN	8	12,691,094 (GRCm39)	splice site	probably benign
IGL01943:Tubgcp3	APN	8	12,704,301 (GRCm39)	missense	probably damaging	1.00
IGL02345:Tubgcp3	APN	8	12,675,056 (GRCm39)	missense	probably damaging	1.00
IGL02555:Tubgcp3	APN	8	12,689,595 (GRCm39)	missense	probably benign	0.36
IGL02644:Tubgcp3	APN	8	12,698,733 (GRCm39)	missense	probably damaging	1.00
IGL02976:Tubgcp3	APN	8	12,682,300 (GRCm39)	missense	probably damaging	1.00
IGL03240:Tubgcp3	APN	8	12,699,797 (GRCm39)	missense	probably benign	0.07
IGL03287:Tubgcp3	APN	8	12,689,630 (GRCm39)	missense	possibly damaging	0.77
Tinky_winky	UTSW	8	12,700,171 (GRCm39)	missense	probably damaging	1.00
R0145:Tubgcp3	UTSW	8	12,707,561 (GRCm39)	missense	probably benign	0.01
R0379:Tubgcp3	UTSW	8	12,691,116 (GRCm39)	missense	probably damaging	0.97
R0558:Tubgcp3	UTSW	8	12,703,462 (GRCm39)	missense	probably benign	0.00
R1490:Tubgcp3	UTSW	8	12,689,550 (GRCm39)	missense	probably damaging	1.00
R1709:Tubgcp3	UTSW	8	12,689,532 (GRCm39)	nonsense	probably null
R1768:Tubgcp3	UTSW	8	12,699,686 (GRCm39)	unclassified	probably benign
R1921:Tubgcp3	UTSW	8	12,671,932 (GRCm39)	nonsense	probably null
R1928:Tubgcp3	UTSW	8	12,713,988 (GRCm39)	missense	possibly damaging	0.94
R2161:Tubgcp3	UTSW	8	12,682,292 (GRCm39)	missense	probably benign	0.22
R3120:Tubgcp3	UTSW	8	12,707,626 (GRCm39)	missense	possibly damaging	0.51
R3434:Tubgcp3	UTSW	8	12,708,381 (GRCm39)	splice site	probably null
R4011:Tubgcp3	UTSW	8	12,689,634 (GRCm39)	nonsense	probably null
R4162:Tubgcp3	UTSW	8	12,689,547 (GRCm39)	missense	possibly damaging	0.46
R4300:Tubgcp3	UTSW	8	12,707,600 (GRCm39)	missense	probably damaging	0.99
R4350:Tubgcp3	UTSW	8	12,691,117 (GRCm39)	missense	probably benign	0.19
R4529:Tubgcp3	UTSW	8	12,713,932 (GRCm39)	missense	probably damaging	0.98
R4530:Tubgcp3	UTSW	8	12,713,932 (GRCm39)	missense	probably damaging	0.98
R4531:Tubgcp3	UTSW	8	12,713,932 (GRCm39)	missense	probably damaging	0.98
R4676:Tubgcp3	UTSW	8	12,700,171 (GRCm39)	missense	probably damaging	1.00
R4730:Tubgcp3	UTSW	8	12,707,654 (GRCm39)	missense	probably benign	0.03
R4828:Tubgcp3	UTSW	8	12,721,987 (GRCm39)	missense	probably benign
R4860:Tubgcp3	UTSW	8	12,699,722 (GRCm39)	missense	probably benign	0.03
R4860:Tubgcp3	UTSW	8	12,699,722 (GRCm39)	missense	probably benign	0.03
R5610:Tubgcp3	UTSW	8	12,689,577 (GRCm39)	missense	probably damaging	1.00
R5625:Tubgcp3	UTSW	8	12,674,888 (GRCm39)	missense	possibly damaging	0.46
R5650:Tubgcp3	UTSW	8	12,698,670 (GRCm39)	missense	probably damaging	0.98
R5775:Tubgcp3	UTSW	8	12,675,056 (GRCm39)	missense	probably damaging	1.00
R6257:Tubgcp3	UTSW	8	12,699,835 (GRCm39)	splice site	probably null
R6314:Tubgcp3	UTSW	8	12,698,625 (GRCm39)	missense	probably benign	0.02
R6970:Tubgcp3	UTSW	8	12,687,000 (GRCm39)	missense	probably damaging	0.98
R7173:Tubgcp3	UTSW	8	12,689,259 (GRCm39)	splice site	probably null
R7408:Tubgcp3	UTSW	8	12,711,359 (GRCm39)	nonsense	probably null
R7502:Tubgcp3	UTSW	8	12,691,207 (GRCm39)	missense	probably damaging	0.99
R7701:Tubgcp3	UTSW	8	12,705,974 (GRCm39)	missense	probably benign
R7739:Tubgcp3	UTSW	8	12,707,561 (GRCm39)	missense	probably benign	0.01
R8169:Tubgcp3	UTSW	8	12,666,099 (GRCm39)	missense	probably benign
R8327:Tubgcp3	UTSW	8	12,704,343 (GRCm39)	missense	probably benign	0.11
R8723:Tubgcp3	UTSW	8	12,671,899 (GRCm39)	missense	probably damaging	0.96
R9212:Tubgcp3	UTSW	8	12,691,200 (GRCm39)	missense	possibly damaging	0.67
R9393:Tubgcp3	UTSW	8	12,703,411 (GRCm39)	missense	probably damaging	1.00
R9413:Tubgcp3	UTSW	8	12,674,885 (GRCm39)	missense	probably damaging	1.00
R9650:Tubgcp3	UTSW	8	12,705,974 (GRCm39)	missense	probably benign
R9739:Tubgcp3	UTSW	8	12,699,744 (GRCm39)	missense	probably benign	0.06
R9748:Tubgcp3	UTSW	8	12,699,758 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07