Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03105:Tubgcp5'

418911

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL03105

Quality Score

Status

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55825581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 842 (I842N)

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: I905N

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

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: I905N

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

probably damaging
Transcript: ENSMUST00000205796
AA Change: I842N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adssl1	A	G	12: 112,632,721	I129V	probably benign	Het
Ankrd35	A	G	3: 96,684,057	H553R	probably benign	Het
Brca2	A	G	5: 150,560,485	K2923R	probably benign	Het
Cadm3	A	T	1: 173,345,016	L174M	probably damaging	Het
Car10	T	C	11: 93,100,275	V17A	probably benign	Het
Cep290	A	G	10: 100,551,824	K1956E	possibly damaging	Het
Cfhr1	T	A	1: 139,547,827		probably benign	Het
Crim1	A	T	17: 78,315,750		probably benign	Het
Dedd	G	A	1: 171,340,918	R224H	probably damaging	Het
F7	A	T	8: 13,034,001	I229L	probably null	Het
Fam208a	T	A	14: 27,442,552	C272S	probably damaging	Het
Igkv17-121	A	T	6: 68,037,300	Q112L	probably damaging	Het
Kcnk13	G	A	12: 100,061,110	R148Q	probably damaging	Het
Klk13	T	C	7: 43,721,480	L51P	probably benign	Het
Ldb2	A	G	5: 44,799,373	S41P	possibly damaging	Het
Magi2	A	G	5: 20,543,618	D767G	probably damaging	Het
Mical3	T	C	6: 121,042,238	T8A	probably benign	Het
Mkln1	G	T	6: 31,459,059	E318*	probably null	Het
Mx1	C	T	16: 97,456,354	V68I	possibly damaging	Het
Mylk2	T	C	2: 152,917,359	V350A	possibly damaging	Het
Nav2	T	A	7: 49,464,879	S870R	probably damaging	Het
Olfr19	T	C	16: 16,673,526	T152A	probably benign	Het
Olfr66	A	G	7: 103,882,132	I37T	possibly damaging	Het
Olfr668	A	T	7: 104,925,764		probably benign	Het
Olfr828	T	C	9: 18,815,389	R302G	probably benign	Het
Onecut2	A	T	18: 64,341,508	K358*	probably null	Het
Orai3	A	G	7: 127,773,553		probably benign	Het
Ppp1r32	A	G	19: 10,477,020		probably benign	Het
Rad54b	A	G	4: 11,615,569	N859S	probably benign	Het
Sec23b	C	T	2: 144,582,020	R530W	probably damaging	Het
Slc25a35	T	C	11: 68,968,670	F3S	probably damaging	Het
Slc7a11	A	T	3: 50,372,339	I491K	possibly damaging	Het
Srrt	A	T	5: 137,299,844	N317K	possibly damaging	Het
Sspo	T	C	6: 48,473,658		probably benign	Het
Taf2	A	C	15: 55,045,799	D683E	probably benign	Het
Tcerg1l	G	T	7: 138,248,444		probably benign	Het
Tg	G	T	15: 66,715,106	V1578F	probably benign	Het
Tmem43	G	A	6: 91,480,700	G188D	probably damaging	Het
Tnfrsf8	T	C	4: 145,298,784	Y73C	probably damaging	Het
Ttc21a	A	G	9: 119,942,576	Y147C	probably benign	Het
Ttn	T	A	2: 76,812,177	D11592V	probably damaging	Het
Ttn	T	C	2: 76,778,050	D17843G	probably damaging	Het
Unc80	A	T	1: 66,472,099	T89S	probably damaging	Het
Usp28	T	C	9: 49,039,055	M928T	probably damaging	Het
Usp43	A	G	11: 67,879,976	S611P	possibly damaging	Het
Utp20	A	G	10: 88,791,096	V1000A	probably benign	Het
Zfp263	T	C	16: 3,748,960	C380R	probably damaging	Het
Zfyve1	A	C	12: 83,558,639	C14G	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
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
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

Posted On

2016-08-02