Mutagenetix > Incidental Mutation

Incidental Mutation 'R1746:Tubgcp5'

193980

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

039778-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55808537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 399 (V399M)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

probably benign
Transcript: ENSMUST00000032627
AA Change: V399M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: V399M

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 benign
Transcript: ENSMUST00000205796
AA Change: V399M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,779,598		probably null	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Aknad1	A	G	3: 108,751,783	T38A	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgap21	T	C	2: 20,861,099	E902G	probably damaging	Het
Atg2b	A	G	12: 105,669,329	S227P	possibly damaging	Het
Atp2c2	C	T	8: 119,734,443		probably benign	Het
Atxn10	T	C	15: 85,376,663	V203A	probably damaging	Het
Chd9	A	C	8: 91,010,698	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,572	D601V	probably damaging	Het
Col4a2	G	A	8: 11,446,020	G1547D	probably benign	Het
Cul1	A	G	6: 47,508,245	E270G	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,752,425	T857K	probably benign	Het
Ednra	T	G	8: 77,671,582	T279P	probably benign	Het
Erbin	A	G	13: 103,850,831	I407T	probably damaging	Het
Fggy	A	G	4: 95,926,728	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,780,792	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,556,491	I357T	probably benign	Het
Gulp1	A	G	1: 44,754,353	H58R	possibly damaging	Het
Hid1	A	T	11: 115,354,638	V446E	probably damaging	Het
Igfn1	A	G	1: 135,969,823	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,698,155		probably null	Het
Kmt2d	A	C	15: 98,864,378	L409R	probably damaging	Het
Ltn1	A	C	16: 87,411,781	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,948,411	Q721*	probably null	Het
Nae1	A	G	8: 104,527,385	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,203,639	V83M	probably damaging	Het
Nrg2	G	A	18: 36,021,922	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,255,019	M150V	possibly damaging	Het
Olfr472	C	A	7: 107,902,886	H56Q	probably benign	Het
Olfr945	A	G	9: 39,258,202	S157P	probably damaging	Het
Papola	T	A	12: 105,807,209	D162E	probably benign	Het
Plxnc1	T	C	10: 94,844,179		probably null	Het
Ppp1r16b	T	A	2: 158,746,665		probably null	Het
Ptprq	T	A	10: 107,638,830	E1338V	probably damaging	Het
Puf60	G	A	15: 76,070,784	H437Y	probably benign	Het
Qsox2	C	T	2: 26,220,638	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,457,775	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,263,013		probably null	Het
Rfpl4b	C	T	10: 38,821,053	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,400,913		probably null	Het
Scara5	A	C	14: 65,731,090	M271L	probably benign	Het
Sel1l2	A	G	2: 140,285,237	L118P	probably damaging	Het
Sema6a	T	A	18: 47,306,349		probably benign	Het
Siglech	T	A	7: 55,768,504	H73Q	probably benign	Het
Sim1	A	G	10: 50,984,109	D689G	probably benign	Het
Skp2	T	C	15: 9,139,443	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,894,469	V114E	probably benign	Het
Slc26a6	G	A	9: 108,861,717	G614D	probably benign	Het
Sptbn2	C	T	19: 4,745,964	Q1724*	probably null	Het
Tet3	T	C	6: 83,368,068	T1796A	probably damaging	Het
Tmem117	A	C	15: 94,931,833	D183A	possibly damaging	Het
Trmt44	A	G	5: 35,564,059	S587P	probably benign	Het
Ttn	G	T	2: 76,788,822		probably benign	Het
Txndc2	T	A	17: 65,638,135	D349V	probably damaging	Het
Uggt2	T	A	14: 119,013,503	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,893,904	I53L	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	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
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'- GCTGTGTCAGTGCCATCTGAGAAC -3'
(R):5'- GGCTTCGCCAACATTGTCATATTCAAG -3'

Sequencing Primer
(F):5'- aggcatccatacaggcaaac -3'
(R):5'- GCCAACATTGTCATATTCAAGAATGG -3'

Posted On

2014-05-23