Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01289:Tubgcp3'

72847

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 #

IGL01289

Quality Score

Status

Chromosome

Chromosomal Location

12664277-12722141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12689625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 547 (L547P)

Ref Sequence

ENSEMBL: ENSMUSP00000000776 (fasta)

Gene Model

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

AlphaFold

P58854

Predicted Effect

probably damaging
Transcript: ENSMUST00000000776
AA Change: L547P

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

SMART Domains

Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: L547P

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,350 (GRCm39)	M289L	probably benign	Het
Actg2	A	T	6: 83,500,157 (GRCm39)	M38K	probably damaging	Het
Atp8a2	G	A	14: 59,928,910 (GRCm39)	A1048V	probably benign	Het
Cables1	T	C	18: 12,077,621 (GRCm39)	V583A	probably damaging	Het
Ccng2	A	G	5: 93,421,276 (GRCm39)	K262R	probably null	Het
Cfap206	C	A	4: 34,716,469 (GRCm39)	S332I	probably null	Het
Dscam	A	T	16: 96,445,082 (GRCm39)	Y1536*	probably null	Het
Fam136b-ps	T	A	15: 31,277,010 (GRCm39)		probably benign	Het
Fga	A	G	3: 82,938,552 (GRCm39)	Y309C	possibly damaging	Het
Fgd4	A	T	16: 16,302,167 (GRCm39)	N129K	probably damaging	Het
Gbp8	G	A	5: 105,165,735 (GRCm39)	A306V	probably benign	Het
Hecw1	T	C	13: 14,438,719 (GRCm39)	Y888C	probably damaging	Het
Herc6	G	A	6: 57,575,608 (GRCm39)	G210R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Itga1	T	C	13: 115,122,762 (GRCm39)	I731M	possibly damaging	Het
Itpr2	T	A	6: 146,014,033 (GRCm39)	K2588*	probably null	Het
Itpr3	T	A	17: 27,318,739 (GRCm39)	M965K	probably damaging	Het
Kif22	A	G	7: 126,632,645 (GRCm39)	V247A	probably damaging	Het
Lrrc17	T	C	5: 21,765,899 (GRCm39)	F127S	probably damaging	Het
Lrriq4	T	A	3: 30,704,542 (GRCm39)	L190Q	probably damaging	Het
Mcee	T	A	7: 64,050,066 (GRCm39)	F66I	probably damaging	Het
Med23	T	C	10: 24,778,019 (GRCm39)	F789S	probably damaging	Het
Nmd3	T	G	3: 69,631,620 (GRCm39)	S25R	possibly damaging	Het
Npy5r	T	A	8: 67,134,518 (GRCm39)	N92Y	possibly damaging	Het
Or4a69	A	G	2: 89,313,191 (GRCm39)	M96T	probably benign	Het
Rnf224	G	T	2: 25,126,259 (GRCm39)	D31E	possibly damaging	Het
Timd2	T	C	11: 46,570,499 (GRCm39)	E192G	probably benign	Het
Ttll13	T	A	7: 79,910,187 (GRCm39)	C777S	probably benign	Het
Usp47	G	T	7: 111,662,565 (GRCm39)	V236F	probably damaging	Het
Xirp2	A	T	2: 67,343,525 (GRCm39)	N1922I	probably damaging	Het
Zdhhc24	G	T	19: 4,928,850 (GRCm39)	W25L	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
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
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

2013-10-07