Mutagenetix > Incidental Mutation

Incidental Mutation 'R4531:Tubgcp3'

377737

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp3

Ensembl Gene

ENSMUSG00000000759

Gene Name

tubulin, gamma complex component 3

Synonyms

GCP3, Spc98p

MMRRC Submission

041771-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12664277-12722141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12713932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 62 (L62I)

Ref Sequence

ENSEMBL: ENSMUSP00000127741 (fasta)

Gene Model

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

AlphaFold

P58854

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000776
AA Change: L62I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: L62I

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: ENSMUST00000158016

Predicted Effect

probably damaging
Transcript: ENSMUST00000164774
AA Change: L62I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
AA Change: L62I

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: ENSMUST00000167547

Predicted Effect

unknown
Transcript: ENSMUST00000172056
AA Change: L38I

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,736,962 (GRCm39)	T526A	probably benign	Het
Acad12	T	C	5: 121,736,964 (GRCm39)	Q525R	probably benign	Het
Cnot3	T	C	7: 3,661,073 (GRCm39)	V558A	probably benign	Het
Cntnap4	G	A	8: 113,537,240 (GRCm39)	V704M	possibly damaging	Het
Col22a1	T	C	15: 71,878,998 (GRCm39)	D53G	probably damaging	Het
Cspp1	T	A	1: 10,137,072 (GRCm39)		probably benign	Het
Cyp2d10	T	A	15: 82,289,462 (GRCm39)	T217S	probably benign	Het
Dcaf6	T	C	1: 165,239,036 (GRCm39)	T229A	probably damaging	Het
E4f1	A	T	17: 24,664,961 (GRCm39)	S408T	possibly damaging	Het
Eif1ad19	G	A	12: 87,740,314 (GRCm39)	Q82*	probably null	Het
Gpr149	A	G	3: 62,510,099 (GRCm39)	F339L	probably benign	Het
Hmbox1	A	T	14: 65,062,938 (GRCm39)	C413S	probably benign	Het
Kmo	T	C	1: 175,487,273 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Lrpprc	T	C	17: 85,020,215 (GRCm39)	I1157V	probably benign	Het
Obscn	A	G	11: 58,898,700 (GRCm39)		probably benign	Het
Or14c40	T	A	7: 86,313,479 (GRCm39)	L203H	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pclo	A	G	5: 14,825,422 (GRCm39)	D4657G	unknown	Het
Pgd	T	C	4: 149,241,234 (GRCm39)	K225R	probably benign	Het
Poli	A	T	18: 70,650,548 (GRCm39)	H297Q	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc24a2	T	C	4: 86,909,715 (GRCm39)	I668V	possibly damaging	Het
Tdrd6	A	G	17: 43,939,645 (GRCm39)	S468P	probably damaging	Het
Trav6-4	A	G	14: 53,691,790 (GRCm39)	T3A	probably benign	Het
Trpc2	G	T	7: 101,745,205 (GRCm39)	R807L	probably damaging	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vwce	A	C	19: 10,641,710 (GRCm39)	E812A	probably benign	Het
Zmynd12	T	C	4: 119,280,194 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTCCAAGCGTGGTTAAC -3'
(R):5'- TGTGCTCTGGTGATGAAAGC -3'

Sequencing Primer
(F):5'- CTCCAAGCGTGGTTAACTGCATTAG -3'
(R):5'- AGCTGTCAGGTTATAACTTGCACC -3'

Posted On

2016-04-01