Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00791:Tubgcp2'

14659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tubgcp2

Ensembl Gene

ENSMUSG00000025474

Gene Name

tubulin, gamma complex component 2

Synonyms

1700022B05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL00791

Quality Score

Status

Chromosome

Chromosomal Location

139575868-139616582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139581411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 608 (L608P)

Ref Sequence

ENSEMBL: ENSMUSP00000147329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026547] [ENSMUST00000210224] [ENSMUST00000211638]

AlphaFold

Q921G8

Predicted Effect

probably benign
Transcript: ENSMUST00000026547
AA Change: L608P

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: L608P

Domain	Start	End	E-Value	Type
low complexity region	109	121	N/A	INTRINSIC
Pfam:Spc97_Spc98	220	738	8.6e-123	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209930

Predicted Effect

probably benign
Transcript: ENSMUST00000210224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211186

Predicted Effect

probably damaging
Transcript: ENSMUST00000211638
AA Change: L608P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	A	T	12: 21,289,649 (GRCm39)	M519L	possibly damaging	Het
Bbs7	T	C	3: 36,629,436 (GRCm39)	*674W	probably null	Het
Ceacam13	A	G	7: 17,747,278 (GRCm39)	T244A	possibly damaging	Het
Cln8	T	A	8: 14,944,689 (GRCm39)	M1K	probably null	Het
Cnot9	T	C	1: 74,561,533 (GRCm39)	V126A	probably benign	Het
Enpep	T	C	3: 129,125,731 (GRCm39)	T134A	possibly damaging	Het
Fastkd5	C	A	2: 130,458,297 (GRCm39)	A98S	probably benign	Het
Gsdmc	A	T	15: 63,676,284 (GRCm39)	I53N	possibly damaging	Het
Hexd	A	G	11: 121,111,986 (GRCm39)	S427G	probably benign	Het
Lrrk2	T	G	15: 91,664,044 (GRCm39)	L1927R	probably damaging	Het
Mia2	A	G	12: 59,155,085 (GRCm39)	E267G	possibly damaging	Het
Plec	A	G	15: 76,057,137 (GRCm39)	S4132P	probably damaging	Het
Rtn3	A	G	19: 7,412,434 (GRCm39)	L780P	probably damaging	Het
Serpinb9c	A	T	13: 33,335,867 (GRCm39)	V195E	probably damaging	Het
Slit2	T	C	5: 48,461,374 (GRCm39)	Y1474H	possibly damaging	Het
Taf15	A	G	11: 83,379,749 (GRCm39)		probably null	Het
Tbc1d17	A	G	7: 44,494,737 (GRCm39)	S194P	probably benign	Het
Tbc1d2b	T	C	9: 90,109,481 (GRCm39)	S332G	probably benign	Het
Tmpo	A	T	10: 90,998,420 (GRCm39)	S456T	possibly damaging	Het
Zfp39	T	A	11: 58,783,885 (GRCm39)		probably benign	Het
Zfp935	A	C	13: 62,602,278 (GRCm39)	N307K	probably benign	Het

Other mutations in Tubgcp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tubgcp2	APN	7	139,610,935 (GRCm39)	missense	possibly damaging	0.58
IGL02643:Tubgcp2	APN	7	139,576,067 (GRCm39)	missense	probably damaging	1.00
IGL02710:Tubgcp2	APN	7	139,584,897 (GRCm39)	splice site	probably benign
IGL03352:Tubgcp2	APN	7	139,580,940 (GRCm39)	missense	probably benign	0.01
R0189:Tubgcp2	UTSW	7	139,581,518 (GRCm39)	splice site	probably benign
R0333:Tubgcp2	UTSW	7	139,579,260 (GRCm39)	missense	probably damaging	1.00
R0379:Tubgcp2	UTSW	7	139,612,105 (GRCm39)	missense	probably damaging	1.00
R1051:Tubgcp2	UTSW	7	139,578,809 (GRCm39)	missense	probably benign	0.26
R1192:Tubgcp2	UTSW	7	139,609,751 (GRCm39)	missense	probably benign
R1528:Tubgcp2	UTSW	7	139,613,696 (GRCm39)	unclassified	probably benign
R1728:Tubgcp2	UTSW	7	139,577,968 (GRCm39)	missense	probably benign
R1729:Tubgcp2	UTSW	7	139,577,968 (GRCm39)	missense	probably benign
R1784:Tubgcp2	UTSW	7	139,577,968 (GRCm39)	missense	probably benign
R1888:Tubgcp2	UTSW	7	139,586,069 (GRCm39)	missense	probably damaging	1.00
R1888:Tubgcp2	UTSW	7	139,586,069 (GRCm39)	missense	probably damaging	1.00
R1888:Tubgcp2	UTSW	7	139,579,183 (GRCm39)	missense	probably damaging	1.00
R1888:Tubgcp2	UTSW	7	139,579,183 (GRCm39)	missense	probably damaging	1.00
R1967:Tubgcp2	UTSW	7	139,586,066 (GRCm39)	missense	probably benign	0.09
R4514:Tubgcp2	UTSW	7	139,575,984 (GRCm39)	missense	possibly damaging	0.51
R4545:Tubgcp2	UTSW	7	139,575,984 (GRCm39)	missense	possibly damaging	0.51
R4774:Tubgcp2	UTSW	7	139,576,074 (GRCm39)	missense	probably damaging	1.00
R4790:Tubgcp2	UTSW	7	139,579,201 (GRCm39)	missense	probably damaging	1.00
R5114:Tubgcp2	UTSW	7	139,587,354 (GRCm39)	missense	possibly damaging	0.91
R5435:Tubgcp2	UTSW	7	139,575,985 (GRCm39)	missense	possibly damaging	0.51
R5531:Tubgcp2	UTSW	7	139,584,937 (GRCm39)	splice site	probably null
R5699:Tubgcp2	UTSW	7	139,578,701 (GRCm39)	missense	possibly damaging	0.53
R5706:Tubgcp2	UTSW	7	139,612,138 (GRCm39)	nonsense	probably null
R6123:Tubgcp2	UTSW	7	139,587,510 (GRCm39)	missense	probably damaging	1.00
R7153:Tubgcp2	UTSW	7	139,580,949 (GRCm39)	missense	probably benign
R7165:Tubgcp2	UTSW	7	139,585,274 (GRCm39)	missense	probably damaging	0.99
R7213:Tubgcp2	UTSW	7	139,587,927 (GRCm39)	missense	probably benign	0.28
R7424:Tubgcp2	UTSW	7	139,587,837 (GRCm39)	missense	possibly damaging	0.65
R7511:Tubgcp2	UTSW	7	139,584,793 (GRCm39)	missense	probably benign	0.00
R7523:Tubgcp2	UTSW	7	139,586,783 (GRCm39)	missense	probably benign	0.08
R7612:Tubgcp2	UTSW	7	139,580,964 (GRCm39)	missense	probably damaging	1.00
R7951:Tubgcp2	UTSW	7	139,587,893 (GRCm39)	missense	possibly damaging	0.69
R8220:Tubgcp2	UTSW	7	139,586,053 (GRCm39)	missense	possibly damaging	0.92
R8481:Tubgcp2	UTSW	7	139,613,588 (GRCm39)	missense	probably damaging	1.00
R8717:Tubgcp2	UTSW	7	139,576,705 (GRCm39)	missense	probably benign
R8886:Tubgcp2	UTSW	7	139,584,882 (GRCm39)	missense	probably benign	0.04
R9222:Tubgcp2	UTSW	7	139,587,965 (GRCm39)	missense	probably damaging	1.00
R9603:Tubgcp2	UTSW	7	139,584,789 (GRCm39)	missense	probably benign	0.00
R9666:Tubgcp2	UTSW	7	139,587,836 (GRCm39)	missense	probably damaging	1.00
X0004:Tubgcp2	UTSW	7	139,586,934 (GRCm39)	missense	possibly damaging	0.85

Posted On

2012-12-06