Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Tubgcp5'

546854

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex component 5

Synonyms

GCP5, B130010C12Rik

MMRRC Submission

045138-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55443873-55481207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55455114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 270 (V270G)

Ref Sequence

ENSEMBL: ENSMUSP00000032627 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032627
AA Change: V270G

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

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: V270G

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 damaging
Transcript: ENSMUST00000205796
AA Change: V270G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Meta Mutation Damage Score

0.2883

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (101/102)

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,468,979 (GRCm39)	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,016,833 (GRCm39)	D104G	probably damaging	Het
Als2	C	A	1: 59,206,673 (GRCm39)	W1590L	possibly damaging	Het
Aopep	G	T	13: 63,338,339 (GRCm39)	V571F	possibly damaging	Het
Aplf	C	T	6: 87,630,805 (GRCm39)	W210*	probably null	Het
Ash1l	A	T	3: 88,889,978 (GRCm39)	H619L	probably benign	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,044,589 (GRCm39)	V19F	probably damaging	Het
Capn1	A	T	19: 6,064,349 (GRCm39)	L50Q	probably benign	Het
Carmil1	A	G	13: 24,323,318 (GRCm39)	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479 (GRCm39)	H308R	probably benign	Het
Cd4	C	T	6: 124,847,217 (GRCm39)	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,002,662 (GRCm39)	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,223,815 (GRCm39)	I343T	probably benign	Het
Cgn	T	G	3: 94,670,392 (GRCm39)	T1021P	possibly damaging	Het
Cilk1	C	T	9: 78,016,484 (GRCm39)		probably benign	Het
Col6a5	A	G	9: 105,822,937 (GRCm39)	V140A	unknown	Het
Cops8	T	C	1: 90,531,320 (GRCm39)		probably benign	Het
Crhbp	A	G	13: 95,580,699 (GRCm39)	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,275,571 (GRCm39)	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,423,708 (GRCm39)	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 25,077,391 (GRCm39)	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,000,336 (GRCm39)	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,070,181 (GRCm39)	C465*	probably null	Het
Dst	C	A	1: 34,221,879 (GRCm39)	S2561*	probably null	Het
Dstyk	T	C	1: 132,381,847 (GRCm39)	S534P	probably benign	Het
Eif4e	A	G	3: 138,232,943 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,801,817 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,771,032 (GRCm39)	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,555,618 (GRCm39)	G312D	probably benign	Het
Gab2	T	A	7: 96,952,290 (GRCm39)	I562N	probably damaging	Het
Gata5	C	A	2: 179,975,685 (GRCm39)	D160Y	possibly damaging	Het
Gcn1	G	A	5: 115,749,203 (GRCm39)	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,786,655 (GRCm39)	Q107H	probably damaging	Het
Gdpd1	A	G	11: 86,926,118 (GRCm39)	Y276H	probably damaging	Het
Gins1	A	G	2: 150,759,791 (GRCm39)	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,781,329 (GRCm39)	C107R	probably damaging	Het
Hadha	T	C	5: 30,324,998 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,730,867 (GRCm39)	I25F	unknown	Het
Hectd4	A	G	5: 121,437,660 (GRCm39)	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,531,730 (GRCm39)	L73Q	probably damaging	Het
Hspa12a	A	G	19: 58,793,132 (GRCm39)	V351A	probably damaging	Het
Htr1b	T	A	9: 81,514,296 (GRCm39)	M104L	probably benign	Het
Igf2r	T	C	17: 12,917,212 (GRCm39)	T1563A	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Liph	A	T	16: 21,795,009 (GRCm39)	V201E	probably damaging	Het
Ltn1	T	C	16: 87,221,759 (GRCm39)	D196G	probably damaging	Het
Med15	C	T	16: 17,470,591 (GRCm39)	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,714,307 (GRCm39)	D26G	probably damaging	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Mrc2	A	G	11: 105,223,062 (GRCm39)	E435G	possibly damaging	Het
Mrps5	A	G	2: 127,442,786 (GRCm39)	E285G	probably damaging	Het
Ms4a20	A	T	19: 11,087,675 (GRCm39)	F85L	probably benign	Het
Muc16	T	A	9: 18,531,764 (GRCm39)	M6197L	probably damaging	Het
Myo3b	A	T	2: 69,925,552 (GRCm39)	E34D	probably benign	Het
Nsd3	T	C	8: 26,131,279 (GRCm39)	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,368,679 (GRCm39)		probably benign	Het
Ntan1	T	C	16: 13,644,774 (GRCm39)	S37P	probably benign	Het
Nup210l	T	A	3: 90,067,254 (GRCm39)	Y765N	probably damaging	Het
Or10q12	A	T	19: 13,745,715 (GRCm39)	D3V	probably benign	Het
Or2aa1	T	C	11: 59,480,408 (GRCm39)	Y169C	possibly damaging	Het
Or4s2b	A	T	2: 88,509,085 (GRCm39)	R288S	probably damaging	Het
Or7g30	A	C	9: 19,352,888 (GRCm39)	L226F	possibly damaging	Het
Pald1	T	C	10: 61,175,078 (GRCm39)	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,475,257 (GRCm39)	D131V	possibly damaging	Het
Pds5b	G	T	5: 150,724,225 (GRCm39)	R1269S	probably benign	Het
Pikfyve	T	C	1: 65,273,520 (GRCm39)	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676 (GRCm39)	H172N	probably damaging	Het
Plch2	G	C	4: 155,074,489 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,929,453 (GRCm39)	V103E	probably damaging	Het
Prpf8	T	A	11: 75,386,984 (GRCm39)	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,498,906 (GRCm39)	M1K	probably null	Het
Rasgrf2	G	A	13: 92,130,952 (GRCm39)	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,757,584 (GRCm39)	H125Q	probably benign	Het
Sdad1	A	G	5: 92,446,049 (GRCm39)		probably null	Het
Sf3a3	T	A	4: 124,622,219 (GRCm39)	F426L	probably benign	Het
Sgsm3	T	C	15: 80,892,576 (GRCm39)	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,202,252 (GRCm39)	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,436,083 (GRCm39)	N165S	probably benign	Het
Slc41a1	C	A	1: 131,769,795 (GRCm39)	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,281,340 (GRCm39)	P271Q	probably damaging	Het
Spag17	C	A	3: 99,891,925 (GRCm39)	H260N	probably benign	Het
Spata2	A	T	2: 167,327,283 (GRCm39)	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Syt14	T	A	1: 192,665,966 (GRCm39)		probably benign	Het
Tbx21	A	G	11: 96,990,597 (GRCm39)	S329P	probably damaging	Het
Tex2	A	T	11: 106,402,726 (GRCm39)		probably null	Het
Tmem62	A	G	2: 120,824,058 (GRCm39)	I244M	possibly damaging	Het
Tnks	A	T	8: 35,318,790 (GRCm39)	N830K	probably damaging	Het
Tox2	A	G	2: 163,156,264 (GRCm39)	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,723,342 (GRCm39)	D7G	probably damaging	Het
Ttc28	T	A	5: 111,414,445 (GRCm39)	M1320K	probably benign	Het
Unc5a	A	G	13: 55,152,297 (GRCm39)	R62G	probably damaging	Het
Unc5d	A	G	8: 29,205,749 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,558,082 (GRCm39)	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,725,263 (GRCm39)	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,893,473 (GRCm39)	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357 (GRCm39)	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,843,243 (GRCm39)	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,579,982 (GRCm39)	V377A	probably damaging	Het
Zfp457	G	A	13: 67,441,997 (GRCm39)	H97Y	probably benign	Het
Zfp467	T	C	6: 48,415,072 (GRCm39)	T527A	probably damaging	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
IGL01957:Tubgcp5	APN	7	55,468,505 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AATTGCTCTGAACATGCTTCAC -3'
(R):5'- CATGCTTCACAGTGAAACCTAAAG -3'

Sequencing Primer
(F):5'- GCTCTGAACATGCTTCACTAAAAAG -3'
(R):5'- AGTCTGAAATTCATCCCTAAGGCCTG -3'

Posted On

2019-05-13