Mutagenetix > Incidental Mutation

Incidental Mutation 'R7075:Tubgcp5'

549158

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

045170-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7075 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55829407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1002 (V1002L)

Ref Sequence

ENSEMBL: ENSMUSP00000032627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206133] [ENSMUST00000206191]

AlphaFold

Q8BKN5

Predicted Effect

probably benign
Transcript: ENSMUST00000032627
AA Change: V1002L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: V1002L

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

probably benign
Transcript: ENSMUST00000205796
AA Change: V939L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206133

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Coding Region Coverage

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

Validation Efficiency

95% (60/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp1	A	T	12: 85,279,008	H72Q	unknown	Het
Afmid	T	A	11: 117,835,705	D218E	probably benign	Het
Ankhd1	T	C	18: 36,559,989	V1A		Het
Atf7ip	T	C	6: 136,596,515		probably null	Het
BC024139	C	T	15: 76,124,399	V326I	probably benign	Het
Bfsp1	T	A	2: 143,848,965	Q159L	probably damaging	Het
Cct2	A	T	10: 117,061,465	W125R	unknown	Het
Cnksr3	G	T	10: 7,152,931	T147K	probably benign	Het
Colq	C	G	14: 31,552,909	G101R	probably damaging	Het
Dlg5	G	T	14: 24,177,797	T352K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Ebna1bp2	T	C	4: 118,622,102	V119A	probably benign	Het
Eif2ak4	C	T	2: 118,420,810	Q318*	probably null	Het
Eif2b1	G	A	5: 124,571,251	T286M	probably damaging	Het
Fam53b	G	T	7: 132,759,623	D225E	probably damaging	Het
Fh1	A	G	1: 175,607,855	I354T	probably benign	Het
Fnbp1	T	C	2: 31,058,914	H206R	probably benign	Het
Gabrg3	A	T	7: 57,323,696	D74E	probably damaging	Het
Galnt18	A	T	7: 111,556,388	V246E	possibly damaging	Het
Glt6d1	T	C	2: 25,795,280	R44G	probably benign	Het
Gm17087	T	C	17: 8,566,803	M23V	probably benign	Het
Gpr160	A	T	3: 30,896,777	I333L	possibly damaging	Het
Hars	T	C	18: 36,772,355	N142S	possibly damaging	Het
Hmgcll1	T	C	9: 76,056,552	V97A	possibly damaging	Het
Itih4	T	G	14: 30,892,603	V474G	probably damaging	Het
Keap1	C	T	9: 21,231,256	V568I	probably benign	Het
Kifc5b	A	G	17: 26,925,898	M633V	probably benign	Het
Lsm4	A	G	8: 70,677,785	E18G	probably damaging	Het
Meox1	T	A	11: 101,893,743	Q88L	probably damaging	Het
Mettl25	T	C	10: 105,829,924	N147S	possibly damaging	Het
Mphosph9	A	C	5: 124,320,859	W83G	probably damaging	Het
Olfr1006	T	A	2: 85,674,824	Y109F		Het
Olfr1098	T	G	2: 86,922,646	K295N	possibly damaging	Het
Olfr344	T	C	2: 36,569,180	I194T	probably benign	Het
Olfr862	T	A	9: 19,884,063	M81L	probably benign	Het
Olfr878	T	C	9: 37,919,074	V139A	probably benign	Het
Olfr992	T	C	2: 85,400,200	D111G	probably damaging	Het
Otogl	G	T	10: 107,778,929	T1954K	probably benign	Het
Padi2	T	C	4: 140,933,217	V336A	probably damaging	Het
Phf21a	C	T	2: 92,360,379	Q675*	probably null	Het
Ppip5k1	T	C	2: 121,321,750	E1092G	probably damaging	Het
Psg21	T	C	7: 18,654,861	N102S	probably damaging	Het
Ralgapa1	C	A	12: 55,820,723	Q15H	possibly damaging	Het
Rbm26	A	T	14: 105,160,607	D26E	unknown	Het
Rbp4	T	C	19: 38,124,061	Y152C	probably damaging	Het
Recql4	A	G	15: 76,706,424	V646A	possibly damaging	Het
Rnf220	A	T	4: 117,285,882	M63K	probably benign	Het
Selenok	T	C	14: 29,970,067	S21P	probably damaging	Het
Senp1	A	G	15: 98,058,326	V404A	probably benign	Het
Sh3yl1	A	G	12: 30,940,166		probably null	Het
Snx32	A	G	19: 5,496,990	L275P	probably damaging	Het
Ssfa2	T	A	2: 79,635,660	S41T	probably damaging	Het
Stat5a	T	C	11: 100,879,693	V519A	possibly damaging	Het
Tbc1d10b	A	T	7: 127,203,238	V388E	possibly damaging	Het
Tdrd6	A	G	17: 43,625,174	V1661A	probably benign	Het
Tmem63a	T	A	1: 180,961,149	F350L	probably damaging	Het
Trio	A	T	15: 27,898,000	I401K	unknown	Het
Ttn	T	C	2: 76,716,829	E32291G	probably damaging	Het
Vav3	C	T	3: 109,525,924	T410I	possibly damaging	Het
Vmn1r1	A	T	1: 182,158,032	F23I	probably benign	Het
Vmn2r84	T	A	10: 130,391,072	Q299L	probably damaging	Het
Vmn2r85	T	A	10: 130,422,688	E499D	probably benign	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
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'- AGTTCTAGCCAATATGAGACTCTGTC -3'
(R):5'- TTCTGCCGAACCAATTCAAATC -3'

Sequencing Primer
(F):5'- AAGCACTGTTTCCTAGTTTATGATC -3'
(R):5'- TCATCACTAAGTATTTCCCAGTTTTG -3'

Posted On

2019-05-15