Mutagenetix > Incidental Mutation

Incidental Mutation 'R3766:Tubgcp5'

274707

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

040743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55830866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1018 (M1018K)

Ref Sequence

ENSEMBL: ENSMUSP00000032627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206133] [ENSMUST00000206191]

AlphaFold

Q8BKN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032627
AA Change: M1018K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: M1018K

Domain	Start	End	E-Value	Type
low complexity region	109	124	N/A	INTRINSIC
Pfam:Spc97_Spc98	273	942	1.2e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205311

Predicted Effect

probably benign
Transcript: ENSMUST00000205796
AA Change: M955K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000206133

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Meta Mutation Damage Score

0.5877

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Brf2	G	T	8: 27,124,468	T230N	possibly damaging	Het
Ccne2	A	G	4: 11,199,293		probably benign	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Cttnbp2nl	G	A	3: 105,004,801	T589I	probably benign	Het
Dock10	A	G	1: 80,536,926	S1091P	probably damaging	Het
Fh1	A	G	1: 175,614,750	V178A	probably damaging	Het
Fndc1	A	G	17: 7,784,421	S111P	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Gm29394	C	T	15: 58,048,628		probably benign	Het
Herc2	A	G	7: 56,163,824	D2601G	probably damaging	Het
Hspa13	T	C	16: 75,765,086	D75G	probably benign	Het
Itgav	T	C	2: 83,801,885		probably null	Het
Kif6	A	T	17: 49,758,643		probably benign	Het
Lypla1	G	A	1: 4,840,978	R104Q	probably benign	Het
Map1b	T	C	13: 99,434,087	K709E	unknown	Het
Olfr504	G	A	7: 108,565,195	P200L	probably benign	Het
Olfr685	A	T	7: 105,180,881	I159K	probably damaging	Het
Pcdhb16	A	T	18: 37,478,196	K70*	probably null	Het
Pex5l	T	G	3: 33,007,178	D174A	probably benign	Het
Plac8l1	A	T	18: 42,180,395	M94K	probably benign	Het
Plxna1	T	C	6: 89,334,775		probably benign	Het
Psg26	T	C	7: 18,475,071	T471A	probably benign	Het
Pus3	C	A	9: 35,566,672	T400K	probably benign	Het
Pxk	T	C	14: 8,136,863		probably benign	Het
Rapgef2	T	C	3: 79,088,750	T569A	probably benign	Het
Sall4	T	C	2: 168,756,044	Q292R	possibly damaging	Het
Slc18b1	A	G	10: 23,798,749	D34G	probably damaging	Het
Slc45a1	T	C	4: 150,638,060	R456G	probably damaging	Het
Sox13	T	C	1: 133,390,798	R81G	possibly damaging	Het
Spag9	A	G	11: 94,060,283		probably benign	Het
Ston1	C	T	17: 88,635,360	P65S	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Tcim	T	A	8: 24,438,749	R50W	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Trim59	A	G	3: 69,036,804	V401A	probably benign	Het
Trpm3	A	C	19: 22,448,377	Q32P	probably benign	Het
Ube2o	A	G	11: 116,546,863		probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uvrag	G	T	7: 98,888,143	S615*	probably null	Het
Vmn2r6	T	A	3: 64,556,508	I302L	probably benign	Het
Vmn2r73	C	T	7: 85,871,990	V257I	probably benign	Het

Other mutations in Tubgcp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Tubgcp5	APN	7	55806595	missense	possibly damaging	0.91
IGL01291:Tubgcp5	APN	7	55808529	missense	possibly damaging	0.83
IGL01343:Tubgcp5	APN	7	55796031	splice site	probably benign
IGL01597:Tubgcp5	APN	7	55806832	splice site	probably benign
IGL01688:Tubgcp5	APN	7	55815018	missense	possibly damaging	0.92
IGL01843:Tubgcp5	APN	7	55799473	missense	probably benign	0.02
IGL01950:Tubgcp5	APN	7	55806088	missense	possibly damaging	0.93
IGL01957:Tubgcp5	APN	7	55818757	missense	probably damaging	1.00
IGL02902:Tubgcp5	APN	7	55806607	nonsense	probably null
IGL03105:Tubgcp5	APN	7	55825581	missense	probably damaging	1.00
ANU05:Tubgcp5	UTSW	7	55808529	missense	possibly damaging	0.83
R0078:Tubgcp5	UTSW	7	55818895	missense	probably damaging	1.00
R0322:Tubgcp5	UTSW	7	55814978	missense	probably damaging	0.98
R0362:Tubgcp5	UTSW	7	55800684	missense	probably damaging	1.00
R0449:Tubgcp5	UTSW	7	55823567	missense	probably benign
R0488:Tubgcp5	UTSW	7	55829338	missense	probably damaging	0.96
R0853:Tubgcp5	UTSW	7	55814851	splice site	probably benign
R0885:Tubgcp5	UTSW	7	55806055	nonsense	probably null
R1483:Tubgcp5	UTSW	7	55825707	critical splice donor site	probably null
R1746:Tubgcp5	UTSW	7	55808537	missense	probably benign	0.05
R1766:Tubgcp5	UTSW	7	55815020	missense	probably benign	0.15
R2148:Tubgcp5	UTSW	7	55799511	missense	probably damaging	1.00
R2229:Tubgcp5	UTSW	7	55830881	missense	probably damaging	1.00
R4154:Tubgcp5	UTSW	7	55805329	missense	probably benign	0.01
R4838:Tubgcp5	UTSW	7	55794185	unclassified	probably benign
R4948:Tubgcp5	UTSW	7	55806123	missense	probably benign	0.00
R5110:Tubgcp5	UTSW	7	55808637	missense	probably damaging	0.96
R5347:Tubgcp5	UTSW	7	55823685	missense	probably damaging	1.00
R5417:Tubgcp5	UTSW	7	55825661	missense	possibly damaging	0.90
R5574:Tubgcp5	UTSW	7	55805329	missense	probably benign	0.01
R5758:Tubgcp5	UTSW	7	55818895	missense	probably damaging	1.00
R5957:Tubgcp5	UTSW	7	55814962	missense	probably benign	0.03
R6014:Tubgcp5	UTSW	7	55823609	missense	probably benign
R6141:Tubgcp5	UTSW	7	55806778	missense	probably benign	0.30
R6289:Tubgcp5	UTSW	7	55795923	missense	probably benign	0.05
R6511:Tubgcp5	UTSW	7	55817392	nonsense	probably null
R6563:Tubgcp5	UTSW	7	55825661	missense	possibly damaging	0.90
R6574:Tubgcp5	UTSW	7	55823583	missense	probably benign
R6596:Tubgcp5	UTSW	7	55806634	missense	probably benign	0.38
R7016:Tubgcp5	UTSW	7	55794229	missense	possibly damaging	0.76
R7038:Tubgcp5	UTSW	7	55805366	missense	probably damaging	0.99
R7075:Tubgcp5	UTSW	7	55829407	missense	probably benign	0.04
R7083:Tubgcp5	UTSW	7	55800695	nonsense	probably null
R7213:Tubgcp5	UTSW	7	55806112	missense	probably damaging	0.97
R7284:Tubgcp5	UTSW	7	55823567	missense	probably benign
R7600:Tubgcp5	UTSW	7	55808513	missense	probably benign
R7813:Tubgcp5	UTSW	7	55800696	missense	possibly damaging	0.49
R7920:Tubgcp5	UTSW	7	55816562	missense	probably benign	0.00
R7948:Tubgcp5	UTSW	7	55794248	missense	probably benign	0.01
R8438:Tubgcp5	UTSW	7	55804615	missense	possibly damaging	0.67
R8499:Tubgcp5	UTSW	7	55804615	missense	possibly damaging	0.67
R9087:Tubgcp5	UTSW	7	55817358	missense	probably damaging	1.00
R9211:Tubgcp5	UTSW	7	55806583	missense	probably benign	0.05
R9269:Tubgcp5	UTSW	7	55795945	missense	possibly damaging	0.94
R9329:Tubgcp5	UTSW	7	55829433	critical splice donor site	probably null
R9355:Tubgcp5	UTSW	7	55817429	critical splice donor site	probably null
R9498:Tubgcp5	UTSW	7	55813485	missense	possibly damaging	0.46
R9687:Tubgcp5	UTSW	7	55825579	critical splice acceptor site	probably null
Z1088:Tubgcp5	UTSW	7	55815101	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACTGTGTTCAATGGAAGGCTTTT -3'
(R):5'- CCAGGATAGTGAAATCTAAGACAATTT -3'

Sequencing Primer
(F):5'- TTCTGAGTTCAAGGACAGCC -3'
(R):5'- TTCTGAGCACCAGGTATGTAC -3'

Posted On

2015-04-02