Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01957:Tubgcp5'

181124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex component 5

Synonyms

GCP5, B130010C12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01957

Quality Score

Status

Chromosome

Chromosomal Location

55443873-55481207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55468505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 667 (E667K)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032627
AA Change: E730K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: E730K

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

noncoding transcript
Transcript: ENSMUST00000205779

Predicted Effect

probably damaging
Transcript: ENSMUST00000205796
AA Change: E667K

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	C	12: 31,235,042 (GRCm39)		noncoding transcript	Het
Cops3	A	G	11: 59,712,217 (GRCm39)		probably benign	Het
Cyth2	A	T	7: 45,457,805 (GRCm39)	Y304N	probably benign	Het
Dhx8	A	G	11: 101,645,652 (GRCm39)	N837S	possibly damaging	Het
Evpl	A	G	11: 116,114,048 (GRCm39)	L1214P	probably damaging	Het
Gm94	A	G	18: 43,917,746 (GRCm39)	S40P	probably damaging	Het
Gpm6a	A	T	8: 55,503,212 (GRCm39)	M154L	probably benign	Het
Ipo13	A	G	4: 117,761,078 (GRCm39)	S547P	probably damaging	Het
Mfsd14b	A	C	13: 65,234,907 (GRCm39)	V90G	possibly damaging	Het
Mfsd4b4	A	T	10: 39,768,025 (GRCm39)	M356K	probably damaging	Het
Msh6	T	G	17: 88,292,519 (GRCm39)	F425V	possibly damaging	Het
Or4k15c	T	C	14: 50,321,737 (GRCm39)	T134A	probably benign	Het
Or52m2	A	T	7: 102,263,546 (GRCm39)	L217I	probably damaging	Het
Or6c215	A	G	10: 129,638,119 (GRCm39)	Y92H	probably damaging	Het
Ptk2	T	C	15: 73,114,322 (GRCm39)	I679V	probably benign	Het
Rtel1	T	C	2: 180,991,106 (GRCm39)		probably benign	Het
Sema3d	T	A	5: 12,613,282 (GRCm39)	V453E	probably damaging	Het
Spata31e2	C	T	1: 26,724,340 (GRCm39)	C280Y	probably damaging	Het
Syk	C	A	13: 52,785,776 (GRCm39)	D327E	probably benign	Het
Triobp	G	A	15: 78,856,847 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r76	G	T	7: 85,877,925 (GRCm39)	H491N	probably benign	Het

Other mutations in Tubgcp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Tubgcp5	APN	7	55,456,343 (GRCm39)	missense	possibly damaging	0.91
IGL01291:Tubgcp5	APN	7	55,458,277 (GRCm39)	missense	possibly damaging	0.83
IGL01343:Tubgcp5	APN	7	55,445,779 (GRCm39)	splice site	probably benign
IGL01597:Tubgcp5	APN	7	55,456,580 (GRCm39)	splice site	probably benign
IGL01688:Tubgcp5	APN	7	55,464,766 (GRCm39)	missense	possibly damaging	0.92
IGL01843:Tubgcp5	APN	7	55,449,221 (GRCm39)	missense	probably benign	0.02
IGL01950:Tubgcp5	APN	7	55,455,836 (GRCm39)	missense	possibly damaging	0.93
IGL02902:Tubgcp5	APN	7	55,456,355 (GRCm39)	nonsense	probably null
IGL03105:Tubgcp5	APN	7	55,475,329 (GRCm39)	missense	probably damaging	1.00
ANU05:Tubgcp5	UTSW	7	55,458,277 (GRCm39)	missense	possibly damaging	0.83
R0078:Tubgcp5	UTSW	7	55,468,643 (GRCm39)	missense	probably damaging	1.00
R0322:Tubgcp5	UTSW	7	55,464,726 (GRCm39)	missense	probably damaging	0.98
R0362:Tubgcp5	UTSW	7	55,450,432 (GRCm39)	missense	probably damaging	1.00
R0449:Tubgcp5	UTSW	7	55,473,315 (GRCm39)	missense	probably benign
R0488:Tubgcp5	UTSW	7	55,479,086 (GRCm39)	missense	probably damaging	0.96
R0853:Tubgcp5	UTSW	7	55,464,599 (GRCm39)	splice site	probably benign
R0885:Tubgcp5	UTSW	7	55,455,803 (GRCm39)	nonsense	probably null
R1483:Tubgcp5	UTSW	7	55,475,455 (GRCm39)	critical splice donor site	probably null
R1746:Tubgcp5	UTSW	7	55,458,285 (GRCm39)	missense	probably benign	0.05
R1766:Tubgcp5	UTSW	7	55,464,768 (GRCm39)	missense	probably benign	0.15
R2148:Tubgcp5	UTSW	7	55,449,259 (GRCm39)	missense	probably damaging	1.00
R2229:Tubgcp5	UTSW	7	55,480,629 (GRCm39)	missense	probably damaging	1.00
R3766:Tubgcp5	UTSW	7	55,480,614 (GRCm39)	missense	probably damaging	0.98
R4154:Tubgcp5	UTSW	7	55,455,077 (GRCm39)	missense	probably benign	0.01
R4838:Tubgcp5	UTSW	7	55,443,933 (GRCm39)	unclassified	probably benign
R4948:Tubgcp5	UTSW	7	55,455,871 (GRCm39)	missense	probably benign	0.00
R5110:Tubgcp5	UTSW	7	55,458,385 (GRCm39)	missense	probably damaging	0.96
R5347:Tubgcp5	UTSW	7	55,473,433 (GRCm39)	missense	probably damaging	1.00
R5417:Tubgcp5	UTSW	7	55,475,409 (GRCm39)	missense	possibly damaging	0.90
R5574:Tubgcp5	UTSW	7	55,455,077 (GRCm39)	missense	probably benign	0.01
R5758:Tubgcp5	UTSW	7	55,468,643 (GRCm39)	missense	probably damaging	1.00
R5957:Tubgcp5	UTSW	7	55,464,710 (GRCm39)	missense	probably benign	0.03
R6014:Tubgcp5	UTSW	7	55,473,357 (GRCm39)	missense	probably benign
R6141:Tubgcp5	UTSW	7	55,456,526 (GRCm39)	missense	probably benign	0.30
R6289:Tubgcp5	UTSW	7	55,445,671 (GRCm39)	missense	probably benign	0.05
R6511:Tubgcp5	UTSW	7	55,467,140 (GRCm39)	nonsense	probably null
R6563:Tubgcp5	UTSW	7	55,475,409 (GRCm39)	missense	possibly damaging	0.90
R6574:Tubgcp5	UTSW	7	55,473,331 (GRCm39)	missense	probably benign
R6596:Tubgcp5	UTSW	7	55,456,382 (GRCm39)	missense	probably benign	0.38
R7016:Tubgcp5	UTSW	7	55,443,977 (GRCm39)	missense	possibly damaging	0.76
R7038:Tubgcp5	UTSW	7	55,455,114 (GRCm39)	missense	probably damaging	0.99
R7075:Tubgcp5	UTSW	7	55,479,155 (GRCm39)	missense	probably benign	0.04
R7083:Tubgcp5	UTSW	7	55,450,443 (GRCm39)	nonsense	probably null
R7213:Tubgcp5	UTSW	7	55,455,860 (GRCm39)	missense	probably damaging	0.97
R7284:Tubgcp5	UTSW	7	55,473,315 (GRCm39)	missense	probably benign
R7600:Tubgcp5	UTSW	7	55,458,261 (GRCm39)	missense	probably benign
R7813:Tubgcp5	UTSW	7	55,450,444 (GRCm39)	missense	possibly damaging	0.49
R7920:Tubgcp5	UTSW	7	55,466,310 (GRCm39)	missense	probably benign	0.00
R7948:Tubgcp5	UTSW	7	55,443,996 (GRCm39)	missense	probably benign	0.01
R8438:Tubgcp5	UTSW	7	55,454,363 (GRCm39)	missense	possibly damaging	0.67
R8499:Tubgcp5	UTSW	7	55,454,363 (GRCm39)	missense	possibly damaging	0.67
R9087:Tubgcp5	UTSW	7	55,467,106 (GRCm39)	missense	probably damaging	1.00
R9211:Tubgcp5	UTSW	7	55,456,331 (GRCm39)	missense	probably benign	0.05
R9269:Tubgcp5	UTSW	7	55,445,693 (GRCm39)	missense	possibly damaging	0.94
R9329:Tubgcp5	UTSW	7	55,479,181 (GRCm39)	critical splice donor site	probably null
R9355:Tubgcp5	UTSW	7	55,467,177 (GRCm39)	critical splice donor site	probably null
R9498:Tubgcp5	UTSW	7	55,463,233 (GRCm39)	missense	possibly damaging	0.46
R9687:Tubgcp5	UTSW	7	55,475,327 (GRCm39)	critical splice acceptor site	probably null
Z1088:Tubgcp5	UTSW	7	55,464,849 (GRCm39)	missense	probably benign

Posted On

2014-05-07