Mutagenetix > Incidental Mutation

Incidental Mutation 'R5347:Tubgcp5'

422672

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

042926-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55823685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 837 (Y837C)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032627
AA Change: Y900C

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

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: Y900C

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

noncoding transcript
Transcript: ENSMUST00000205718

Predicted Effect

probably damaging
Transcript: ENSMUST00000205796
AA Change: Y837C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206133

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,892,154	Y233C	probably damaging	Het
Agl	A	G	3: 116,791,165	S169P	probably damaging	Het
Arid1b	C	T	17: 5,291,057	Q879*	probably null	Het
Bbs2	A	G	8: 94,092,550	S64P	probably damaging	Het
BC027072	A	G	17: 71,749,935	S916P	probably benign	Het
Bend7	G	A	2: 4,763,241	R336Q	probably damaging	Het
Cacna2d2	A	G	9: 107,514,114	T447A	probably benign	Het
Ccdc169	A	T	3: 55,142,319		probably benign	Het
Cdan1	A	G	2: 120,730,065	S275P	possibly damaging	Het
Cdh15	A	G	8: 122,862,063	N292S	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnnm1	A	G	19: 43,441,862	H473R	probably benign	Het
Cplx4	G	A	18: 65,970,086		probably benign	Het
Crb1	C	T	1: 139,337,371	G103E	probably damaging	Het
Diexf	A	T	1: 193,128,379	D105E	probably benign	Het
Dnaja3	T	A	16: 4,694,482	V250E	possibly damaging	Het
Dync2h1	T	G	9: 7,129,727	Q1757P	probably damaging	Het
Edem3	A	G	1: 151,807,451	Q626R	probably damaging	Het
Eif2b1	T	C	5: 124,578,799		probably benign	Het
Esf1	T	A	2: 140,154,881	K521*	probably null	Het
Fam160b1	A	G	19: 57,378,619	D198G	probably benign	Het
Fbxl3	A	C	14: 103,083,294	V239G	probably damaging	Het
Fto	A	G	8: 91,391,479		probably benign	Het
Gm5773	T	C	3: 93,773,783	L254P	probably damaging	Het
Gm5916	A	T	9: 36,120,716	W91R	probably benign	Het
Gm8251	T	A	1: 44,057,795	Y1381F	probably benign	Het
Gpam	A	T	19: 55,088,837	L174H	probably damaging	Het
Grk1	G	A	8: 13,414,478	R450Q	probably damaging	Het
Hc	G	A	2: 35,037,624	A326V	probably benign	Het
Hectd4	T	C	5: 121,304,448	I1317T	probably benign	Het
Hlcs	A	G	16: 94,267,524	V426A	possibly damaging	Het
Ighv1-23	T	C	12: 114,764,756		probably benign	Het
Itgax	G	A	7: 128,141,302	V754I	probably benign	Het
Krt24	T	A	11: 99,282,730	D255V	probably damaging	Het
Lnpk	T	C	2: 74,573,591		probably benign	Het
Loxhd1	G	T	18: 77,366,541	R478L	probably damaging	Het
Lrrc56	A	G	7: 141,209,624	Q518R	probably benign	Het
Mbl1	A	T	14: 41,158,829	I225F	probably damaging	Het
Mmp21	T	C	7: 133,675,922	S392G	probably benign	Het
Mug2	T	G	6: 122,081,592	F1318V	probably damaging	Het
Myo5c	A	G	9: 75,295,205	N1447S	probably null	Het
Nbea	A	C	3: 56,040,876	V543G	probably damaging	Het
Necap1	A	G	6: 122,880,747	I96V	probably benign	Het
Nr3c2	T	A	8: 77,210,748	M872K	possibly damaging	Het
Nrf1	C	T	6: 30,118,968	T362M	probably benign	Het
Olfr113	T	C	17: 37,574,727	E232G	probably damaging	Het
Plekhm3	T	C	1: 64,819,990	E685G	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sbk3	A	T	7: 4,967,423	S316T	probably benign	Het
Serpinb9e	T	C	13: 33,257,784	L233P	probably damaging	Het
Set	T	A	2: 30,069,410	S132T	possibly damaging	Het
Slc17a4	C	T	13: 23,908,817	E11K	possibly damaging	Het
Slc22a6	T	A	19: 8,618,553	N86K	possibly damaging	Het
Slco1a6	A	G	6: 142,086,599	L600P	probably damaging	Het
Sp8	A	G	12: 118,848,511	K34E	possibly damaging	Het
Spen	T	A	4: 141,471,485	E3254V	probably benign	Het
Tcf12	G	A	9: 71,885,243	P53S	probably damaging	Het
Tcf3	A	G	10: 80,410,211	V626A	probably damaging	Het
Trpc4ap	A	G	2: 155,672,988		probably null	Het
Ttc3	T	A	16: 94,429,620	V892D	probably damaging	Het
Tub	G	T	7: 109,026,771	R243L	possibly damaging	Het
Wdhd1	A	T	14: 47,268,724	Y244*	probably null	Het
Xdh	T	A	17: 73,925,032	T228S	probably benign	Het
Zfp418	A	C	7: 7,182,535	Q499P	probably benign	Het
Zfpm1	G	A	8: 122,335,530	E443K	possibly damaging	Het
Zfy1	T	C	Y: 725,950	H605R	possibly damaging	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
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
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'- AGAACTGGGTAATGCTGCTG -3'
(R):5'- GTCTCTGGACACAATGCTGTTTG -3'

Sequencing Primer
(F):5'- GTAATGCTGCTGAAAGATCCC -3'
(R):5'- CCTGTTGTGATTCTACCAGAGAGAC -3'

Posted On

2016-08-04