Mutagenetix > Incidental Mutation

Incidental Mutation 'R0885:Tubgcp5'

81153

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

039052-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55806055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 277 (L277*)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

probably null
Transcript: ENSMUST00000032627
AA Change: L277*

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: L277*

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: ENSMUST00000205779

Predicted Effect

probably null
Transcript: ENSMUST00000205796
AA Change: L277*

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 24,651,786	K256E	probably damaging	Het
Adam20	T	A	8: 40,796,558	H568Q	probably benign	Het
Ambp	A	G	4: 63,151,468	L107P	probably damaging	Het
Art1	T	C	7: 102,107,334	F244S	probably damaging	Het
Asxl2	C	A	12: 3,501,458	L1067I	probably damaging	Het
Atm	T	C	9: 53,459,823	T2242A	probably benign	Het
Atp2c1	C	T	9: 105,421,573		probably null	Het
Bptf	A	G	11: 107,043,791	Y2819H	probably damaging	Het
Caskin1	G	A	17: 24,505,694	R1152H	probably damaging	Het
Chd7	T	A	4: 8,866,432	L868Q	probably damaging	Het
Cyp2d40	T	C	15: 82,760,915	E178G	unknown	Het
Dclk1	G	T	3: 55,487,307	R103S	probably damaging	Het
Des	A	G	1: 75,360,730	T105A	probably damaging	Het
Ebf3	T	C	7: 137,225,884	T262A	probably benign	Het
Epha4	A	G	1: 77,382,939	V759A	probably damaging	Het
Fam192a	C	A	8: 94,575,779	C208F	probably damaging	Het
Fryl	A	T	5: 73,089,196	F1078I	probably damaging	Het
Il20	T	C	1: 130,910,781	I60V	probably benign	Het
Kif3c	A	T	12: 3,365,981	M1L	probably benign	Het
Lhfpl5	A	T	17: 28,576,037	I13F	probably damaging	Het
Lin28b	C	T	10: 45,381,228	G218E	probably damaging	Het
Lrp2	A	T	2: 69,482,353	N2530K	possibly damaging	Het
Matn2	T	A	15: 34,316,605	F31Y	possibly damaging	Het
Mcm6	T	C	1: 128,348,933	N307D	probably benign	Het
Mmp16	A	T	4: 18,054,491	R332S	probably benign	Het
Mpdz	T	A	4: 81,369,592	T477S	probably benign	Het
Mrgprb3	C	A	7: 48,643,096	G236W	probably damaging	Het
Mrpl47	T	C	3: 32,730,186	D145G	probably damaging	Het
Myo6	T	C	9: 80,242,221	S150P	probably damaging	Het
Naca	C	A	10: 128,040,179	S360*	probably null	Het
Olfr319	C	T	11: 58,702,087	P129S	possibly damaging	Het
Phip	C	A	9: 82,875,395	A1575S	probably benign	Het
Plxna2	T	C	1: 194,644,556	M266T	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	T	C	8: 36,103,267	F335L	probably benign	Het
Prmt2	A	G	10: 76,222,565	Y137H	probably damaging	Het
Ptgds	T	C	2: 25,467,345	D184G	possibly damaging	Het
Ptpn5	T	C	7: 47,088,611	Y241C	probably benign	Het
Pxdn	G	A	12: 30,003,402	V1193M	probably benign	Het
Raet1e	T	A	10: 22,182,087		probably benign	Het
Rttn	A	G	18: 88,983,810	D282G	probably benign	Het
Sis	G	A	3: 72,911,949	R1425*	probably null	Het
Slco2a1	G	T	9: 103,082,383	M559I	probably damaging	Het
Spata4	C	T	8: 54,600,844	A15V	probably damaging	Het
Spop	T	C	11: 95,470,627	S14P	probably benign	Het
Tcof1	A	T	18: 60,835,850	D230E	possibly damaging	Het
Thap8	T	A	7: 30,280,669	Y46*	probably null	Het
Tmem55b	T	C	14: 50,930,306	E54G	probably damaging	Het
Ubxn10	A	T	4: 138,720,570	V265E	probably damaging	Het
Ugt2b36	T	A	5: 87,091,989	Y179F	probably benign	Het
Wdr37	A	C	13: 8,835,252		probably null	Het
Zfp593	A	G	4: 134,244,913	V94A	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
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

Predicted Primers

PCR Primer
(F):5'- AATCCTGTGAAGTTTGACACTCTTCCC -3'
(R):5'- TGTTCCAGCACAGATCGTAAACAGC -3'

Sequencing Primer
(F):5'- CCCATTTTCGTGCAATTGACC -3'
(R):5'- GTTCATACACACTACAGAATTACGG -3'

Posted On

2013-11-07