Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03287:Tubgcp3'

415758

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: 0.967) question?

Stock #

IGL03287

Quality Score

Status

Chromosome

Chromosomal Location

12664277-12722141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12689630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 545 (D545E)

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: D545E

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: D545E

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	T	5: 115,008,237 (GRCm39)	D17V	probably damaging	Het
Cdh5	T	A	8: 104,854,747 (GRCm39)	V225E	probably damaging	Het
Cfap52	C	T	11: 67,826,802 (GRCm39)		probably benign	Het
Cib4	A	G	5: 30,645,887 (GRCm39)	L127P	probably benign	Het
Fbln2	A	G	6: 91,210,476 (GRCm39)	H140R	probably damaging	Het
Grm8	A	G	6: 27,760,254 (GRCm39)	F359L	possibly damaging	Het
Kat7	A	T	11: 95,190,935 (GRCm39)	D150E	probably damaging	Het
Kif1b	A	G	4: 149,299,438 (GRCm39)	I944T	possibly damaging	Het
Krt87	T	C	15: 101,330,218 (GRCm39)		probably benign	Het
Mast1	T	C	8: 85,639,982 (GRCm39)	S1142G	probably benign	Het
Neb	A	G	2: 52,027,335 (GRCm39)	Y6889H	probably damaging	Het
Or10ak13	A	G	4: 118,639,551 (GRCm39)	V77A	possibly damaging	Het
Or1e16	A	T	11: 73,286,845 (GRCm39)	M1K	probably null	Het
Plk4	A	T	3: 40,759,553 (GRCm39)	I150L	probably benign	Het
Scn5a	T	C	9: 119,318,844 (GRCm39)	D1598G	probably damaging	Het
Skor2	A	G	18: 76,963,830 (GRCm39)	K925E	probably damaging	Het
Slc25a29	A	T	12: 108,797,135 (GRCm39)	F22L	possibly damaging	Het
Slc27a2	A	G	2: 126,395,312 (GRCm39)	T80A	probably damaging	Het
Tlr3	A	G	8: 45,855,817 (GRCm39)	V121A	probably benign	Het
Zdhhc8	T	C	16: 18,042,964 (GRCm39)	Y412C	probably benign	Het
Zmynd12	A	G	4: 119,310,776 (GRCm39)	E328G	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
IGL02020:Tubgcp3	APN	8	12,687,780 (GRCm39)	missense	possibly damaging	0.46
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
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

2016-08-02