Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Tubgcp5'

545302

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55794229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000146178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191] [ENSMUST00000206454]

AlphaFold

Q8BKN5

Predicted Effect

probably benign
Transcript: ENSMUST00000032627
AA Change: D12G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: D12G

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

possibly damaging
Transcript: ENSMUST00000205796
AA Change: D12G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206191
AA Change: D12G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206454
AA Change: D2G

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	T	A	10: 77,982,956	C154S	probably benign	Het
Abcb4	T	A	5: 8,936,843	V754D	probably benign	Het
Actn1	T	A	12: 80,172,968	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,521,038	F64S	probably benign	Het
Aip	G	T	19: 4,121,402	D11E	probably benign	Het
Ak7	T	A	12: 105,781,679	Y714*	probably null	Het
Amhr2	A	G	15: 102,454,364	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,593,699	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,878,977	S677P	probably benign	Het
Asph	T	C	4: 9,630,604		probably null	Het
Atp11b	T	C	3: 35,841,036	S908P	probably benign	Het
Atp13a3	C	A	16: 30,338,490	V903L	possibly damaging	Het
Bcam	G	A	7: 19,758,443	R576*	probably null	Het
Btbd2	A	G	10: 80,648,615	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,762,848	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,795,804	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,871,116	I144F	probably null	Het
Cep44	A	T	8: 56,544,199	F101L	possibly damaging	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,407	Y152*	probably null	Het
Edem2	A	G	2: 155,716,072	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,223,718	R198W	probably damaging	Het
Fam208b	A	T	13: 3,576,857	V1031E	possibly damaging	Het
Fgb	A	G	3: 83,046,064	V133A	probably benign	Het
Fsip2	A	G	2: 82,990,635	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hnf4a	T	A	2: 163,564,273	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,770,835	D143G	possibly damaging	Het
Itgae	A	G	11: 73,119,516	N611D	probably damaging	Het
Ksr1	A	T	11: 79,027,536	N515K	probably damaging	Het
Lrp1	C	A	10: 127,559,967		probably null	Het
Map3k20	T	A	2: 72,378,635	V195D	probably damaging	Het
Meox2	A	G	12: 37,109,224	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nell2	T	A	15: 95,229,151	N781I	possibly damaging	Het
Odf3l2	T	C	10: 79,639,956	Y258C	probably damaging	Het
Olfr106-ps	G	A	17: 37,395,203	G221D	possibly damaging	Het
Olfr513	A	G	7: 108,755,711	N285S	probably damaging	Het
Olfr535	A	G	7: 140,493,240	T201A	probably benign	Het
Olfr631	A	G	7: 103,929,530	I236V	probably benign	Het
Otoa	A	T	7: 121,147,766	Q918L	probably damaging	Het
Palld	T	G	8: 61,515,998	K1022T	probably damaging	Het
Parp8	A	T	13: 116,895,091	S362T	probably damaging	Het
Phrf1	A	G	7: 141,237,563	E95G	probably damaging	Het
Pls1	A	T	9: 95,786,941	F76I	probably damaging	Het
Pnp	T	A	14: 50,950,249		probably null	Het
Ptdss1	A	C	13: 66,972,621	M294L	probably benign	Het
Rictor	T	A	15: 6,774,880		probably null	Het
Rilp	A	G	11: 75,510,919	E175G	probably damaging	Het
Serpina16	T	A	12: 103,675,371	T32S	probably benign	Het
Sim1	C	T	10: 50,984,250	S736L	probably benign	Het
Smarcc2	T	G	10: 128,485,329		probably null	Het
Smtn	A	G	11: 3,530,368		probably null	Het
Sspo	T	A	6: 48,449,164	W98R	probably damaging	Het
St8sia3	A	T	18: 64,269,583	I98F	probably benign	Het
Taf10	A	T	7: 105,743,998		probably null	Het
Tbc1d4	T	A	14: 101,487,441	N580I	probably damaging	Het
Trim12c	A	T	7: 104,348,206	C48S		Het
Tsc22d1	C	A	14: 76,417,542	T405K	probably damaging	Het
Wwc2	T	C	8: 47,847,548	E960G	unknown	Het
Yme1l1	T	A	2: 23,186,355		probably null	Het
Zbtb2	G	C	10: 4,368,646	P460R	probably damaging	Het
Zfp62	T	G	11: 49,215,937	I285S	probably 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
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
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'- GTCTGAAGACTCTCGGATTTCCC -3'
(R):5'- AACTGCGGGTTTCTCGCAAG -3'

Sequencing Primer
(F):5'- ATTTCCCGGTGTGCAAGCAG -3'
(R):5'- GGTTTCTCGCAAGGGCAC -3'

Posted On

2019-05-13