Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Tubgcp5'

717368

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 #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55813485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 475 (T475M)

Ref Sequence

ENSEMBL: ENSMUSP00000032627 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032627
AA Change: T475M

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: T475M

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: T475M

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Aadacl3	A	G	4: 144,456,419	Y160H	probably damaging	Het
Abca17	T	C	17: 24,265,506	Y1594C	probably damaging	Het
Abca8a	T	C	11: 110,086,548	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,163,463	I138V	probably benign	Het
Adcy8	G	A	15: 64,920,196	L304F	possibly damaging	Het
Alb	T	C	5: 90,469,503	F354L	probably damaging	Het
Ampd3	T	A	7: 110,809,846	S688R	probably damaging	Het
Areg	T	G	5: 91,146,694	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,733,177	S1243G	probably benign	Het
B3glct	A	G	5: 149,750,429		probably null	Het
BC030867	T	C	11: 102,259,341	S410P	probably benign	Het
Casp7	T	A	19: 56,436,335	L162Q	probably damaging	Het
Cdh22	G	T	2: 165,112,570	T677N	probably damaging	Het
Cdh7	A	G	1: 110,048,905	N100S	probably benign	Het
Cmtm5	T	A	14: 54,936,748	S31T	probably benign	Het
Col6a3	T	A	1: 90,785,928	R2295*	probably null	Het
Cpa6	T	C	1: 10,409,321	N229S	possibly damaging	Het
Dagla	G	T	19: 10,254,854	Y489*	probably null	Het
Dnah7b	A	G	1: 46,214,404	K1823R	probably benign	Het
Dnah9	T	C	11: 65,848,373	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,525,221	E296D	probably damaging	Het
Ednra	A	T	8: 77,720,305	L48Q	probably benign	Het
Esco2	T	C	14: 65,831,303	D186G	probably benign	Het
Foxj2	A	G	6: 122,842,833	D560G	probably damaging	Het
Frmd3	G	A	4: 74,119,818	M105I	probably benign	Het
Gm21671	AACT	A	5: 25,950,851		probably benign	Het
Gria4	A	T	9: 4,503,560		probably null	Het
Ifi204	T	C	1: 173,755,971	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,829,439	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,879,958	T1588A		Het
Myo9a	A	G	9: 59,827,183	S683G	probably damaging	Het
Ncam2	T	C	16: 81,512,999	I459T	probably benign	Het
Nedd4l	T	C	18: 65,161,652		probably null	Het
Nfic	T	C	10: 81,420,668	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,589,969	T920A	probably damaging	Het
Obsl1	C	T	1: 75,490,840	C1430Y	probably damaging	Het
Olfr1048	A	G	2: 86,236,494	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,498,506	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,265,463	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,473,837	R41*	probably null	Het
Pde1b	A	T	15: 103,527,062	D448V	probably benign	Het
Pex7	G	A	10: 19,887,113	R227*	probably null	Het
Pkp1	T	A	1: 135,890,082	Y105F	probably benign	Het
Plbd1	T	C	6: 136,612,246	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,813,142	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,213,291	T792S	unknown	Het
Rasgrf1	A	T	9: 89,944,868	T177S	probably benign	Het
Rbm14	A	G	19: 4,803,467	S296P	probably benign	Het
Rfx8	T	C	1: 39,685,514	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,657,175	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,718,478	S296T	probably benign	Het
Srsf6	A	G	2: 162,932,089	E68G	probably benign	Het
Svs1	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,988,018		probably benign	Het
Syt13	A	T	2: 92,951,404	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,740,241	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,157,855	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,366,641	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,050,341	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,457,610	N362D	probably benign	Het
Ugt2b37	T	C	5: 87,254,385	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,670,885	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,743,077	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,476,346	Q234L	probably benign	Het
Zfp850	T	C	7: 27,989,850	K311R	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
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
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'- TTCCAAGTAAGGATCTGGCAGTTTAC -3'
(R):5'- AAGAGTAGGACATGCCCGTG -3'

Sequencing Primer
(F):5'- CATTTTGAGAATTGCAGCTTCTTCG -3'
(R):5'- TAGGACATGCCCGTGCTTCAG -3'

Posted On

2022-07-18