Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01688:Tubgcp5'

104021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55815018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 549 (V549A)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032627
AA Change: V549A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: V549A

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: ENSMUST00000205718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205779

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205796
AA Change: V549A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,123	L59P	probably damaging	Het
Ccin	A	T	4: 43,984,985	E464V	possibly damaging	Het
Cfap58	A	G	19: 47,974,567	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517	E1131K	probably damaging	Het
Cpne2	A	G	8: 94,554,753	T196A	possibly damaging	Het
Cul4a	A	T	8: 13,146,571	R742*	probably null	Het
Cyp21a1	T	A	17: 34,802,220	I370F	probably damaging	Het
Ddx51	T	C	5: 110,655,647	F332L	probably benign	Het
Gm8232	A	G	14: 44,433,722	D29G	unknown	Het
Got1	A	G	19: 43,524,336		probably null	Het
Gpat4	A	G	8: 23,181,845	I58T	probably benign	Het
Hdac3	T	A	18: 37,954,879	D12V	possibly damaging	Het
Helb	T	C	10: 120,108,980	H217R	probably damaging	Het
Hpf1	A	T	8: 60,896,796	I153L	probably benign	Het
Lgsn	G	A	1: 31,204,405	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,084,982	S561P	possibly damaging	Het
Myh6	G	A	14: 54,963,960	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,862,929		probably benign	Het
Ndufb5	T	A	3: 32,746,464	L62*	probably null	Het
Nek1	A	T	8: 61,105,597	R970*	probably null	Het
Nepro	T	C	16: 44,736,006	L509P	probably damaging	Het
Pank1	T	A	19: 34,840,852	I96F	probably damaging	Het
Parp11	C	A	6: 127,471,606	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,879,470		probably benign	Het
Plekha5	T	A	6: 140,569,389	Y207N	probably damaging	Het
Pomt2	T	A	12: 87,147,520	I37F	probably benign	Het
Prl6a1	T	A	13: 27,317,986	V117E	probably damaging	Het
Prmt3	T	A	7: 49,848,732		probably null	Het
Rcor3	T	A	1: 192,123,600	E20V	probably damaging	Het
Rere	A	G	4: 150,618,436	D1449G	probably damaging	Het
Ric1	T	C	19: 29,577,614	V376A	probably benign	Het
Rims1	G	A	1: 22,397,540	T873I	probably benign	Het
Rras2	T	C	7: 114,060,397	D44G	probably damaging	Het
Sbk2	C	T	7: 4,957,717		probably benign	Het
Slit1	A	G	19: 41,729,106	I73T	probably damaging	Het
Spice1	T	A	16: 44,384,710	M793K	probably benign	Het
Suco	T	C	1: 161,863,911		probably null	Het
Tarbp1	A	T	8: 126,447,551	W839R	probably damaging	Het
Trpc4	T	A	3: 54,266,074		probably benign	Het
Ubap2	T	A	4: 41,226,308	T182S	probably benign	Het
Wrn	A	C	8: 33,310,702		probably benign	Het
Zc3h15	A	G	2: 83,662,192	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,704,025	V552A	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
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
R3766:Tubgcp5	UTSW	7	55830866	missense	probably damaging	0.98
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

Posted On

2014-01-21