Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Tubgcp6'

385763

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp6

Ensembl Gene

ENSMUSG00000051786

Gene Name

tubulin, gamma complex component 6

Synonyms

MMRRC Submission

042577-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88983300-89007411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88990494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 710 (E710G)

Ref Sequence

ENSEMBL: ENSMUSP00000104977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000109353] [ENSMUST00000166480]

AlphaFold

G5E8P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041656
AA Change: E710G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: E710G

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1667	3.3e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109353
AA Change: E710G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: E710G

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1675	2.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163290

SMART Domains

Protein: ENSMUSP00000131359
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	91	288	2.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166480

SMART Domains

Protein: ENSMUSP00000132108
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	2	123	5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168256

Predicted Effect

unknown
Transcript: ENSMUST00000169069
AA Change: E55G

SMART Domains

Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786
AA Change: E55G

Domain	Start	End	E-Value	Type
coiled coil region	77	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170877

Meta Mutation Damage Score

0.3985

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,041,515 (GRCm39)	S215R	possibly damaging	Het
Abcc9	T	C	6: 142,627,867 (GRCm39)	M388V	probably benign	Het
Acbd6	A	C	1: 155,477,275 (GRCm39)	T154P	probably benign	Het
Ago1	T	C	4: 126,347,447 (GRCm39)	D434G	probably damaging	Het
Ankib1	A	T	5: 3,819,652 (GRCm39)	M89K	probably benign	Het
Arap2	A	T	5: 62,833,868 (GRCm39)	H866Q	probably damaging	Het
Armh3	T	C	19: 45,939,146 (GRCm39)	T335A	probably benign	Het
Capn12	A	T	7: 28,589,795 (GRCm39)	H622L	probably benign	Het
Capns2	T	G	8: 93,628,530 (GRCm39)	F140V	probably damaging	Het
Catsper1	T	G	19: 5,385,991 (GRCm39)	F75V	probably benign	Het
Ccdc24	T	C	4: 117,729,297 (GRCm39)	N16S	probably benign	Het
Cdkn2aip	A	T	8: 48,165,964 (GRCm39)	L114Q	probably damaging	Het
Cenpe	T	A	3: 134,940,689 (GRCm39)	S649R	probably damaging	Het
Chgb	A	T	2: 132,635,602 (GRCm39)	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,684,804 (GRCm39)	F123S	probably damaging	Het
Copz2	A	T	11: 96,748,377 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Daw1	C	A	1: 83,165,719 (GRCm39)	A178E	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epb41l5	T	C	1: 119,482,801 (GRCm39)	D629G	probably benign	Het
Erap1	A	G	13: 74,838,829 (GRCm39)	E925G	probably benign	Het
Exoc7	A	C	11: 116,180,095 (GRCm39)	F657V	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Homo
Fry	A	G	5: 150,321,719 (GRCm39)	E1018G	probably damaging	Het
Galc	A	T	12: 98,209,027 (GRCm39)	L15*	probably null	Het
Gm11232	T	A	4: 71,675,138 (GRCm39)	K121N	possibly damaging	Het
Hectd1	A	T	12: 51,831,045 (GRCm39)	D931E	probably benign	Het
Hecw2	T	C	1: 53,871,830 (GRCm39)	H1372R	probably benign	Het
Ighv3-2	T	A	12: 113,997,606 (GRCm39)		noncoding transcript	Het
Kcns2	T	G	15: 34,839,751 (GRCm39)	S371R	probably damaging	Het
Kif23	T	C	9: 61,843,985 (GRCm39)	K175E	probably benign	Het
Kmt2c	G	A	5: 25,500,509 (GRCm39)	R436W	possibly damaging	Het
Lama5	A	G	2: 179,835,242 (GRCm39)	S1317P	probably benign	Het
Lce1e	T	C	3: 92,615,135 (GRCm39)	S71G	unknown	Het
Lrrc37a	T	A	11: 103,388,444 (GRCm39)	E2327V	unknown	Het
Map3k20	A	G	2: 72,232,411 (GRCm39)	M356V	probably benign	Het
Med12l	C	T	3: 59,169,350 (GRCm39)	A1580V	probably damaging	Het
Metap2	G	T	10: 93,725,462 (GRCm39)	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,861,207 (GRCm39)	T53S	probably benign	Het
Nasp	A	T	4: 116,459,382 (GRCm39)	D717E	probably damaging	Het
Ndnf	G	A	6: 65,680,555 (GRCm39)	R278H	possibly damaging	Het
Neb	A	T	2: 52,106,273 (GRCm39)	N4205K	probably damaging	Het
Nebl	A	T	2: 17,380,082 (GRCm39)	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,148,313 (GRCm39)	Y131H	probably damaging	Het
Or14c39	A	C	7: 86,343,687 (GRCm39)	T8P	probably benign	Het
Or1e22	A	G	11: 73,377,623 (GRCm39)	I9T	probably benign	Het
Or5l14	G	T	2: 87,793,042 (GRCm39)	H65N	probably benign	Het
Oscp1	T	A	4: 125,970,555 (GRCm39)	C115S	probably benign	Het
Paip2	C	T	18: 35,746,412 (GRCm39)	R59C	possibly damaging	Het
Pate10	T	G	9: 35,653,465 (GRCm39)	F90V	probably benign	Het
Pcdhga4	G	A	18: 37,819,572 (GRCm39)	D374N	probably damaging	Het
Pcolce	G	T	5: 137,603,936 (GRCm39)		probably benign	Het
Pcyox1l	T	C	18: 61,832,468 (GRCm39)	E193G	probably damaging	Het
Pde6b	A	T	5: 108,573,196 (GRCm39)	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phf11a	A	G	14: 59,521,887 (GRCm39)	F95L	probably benign	Het
Pja2	A	C	17: 64,616,053 (GRCm39)	S281A	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pom121l2	T	C	13: 22,167,984 (GRCm39)	S752P	probably benign	Het
Ppl	T	C	16: 4,906,582 (GRCm39)	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,976,995 (GRCm39)	Y569C	probably damaging	Het
Prss37	G	A	6: 40,493,070 (GRCm39)	T132I	probably benign	Het
Psmf1	A	T	2: 151,571,377 (GRCm39)		probably benign	Het
Ptprj	A	C	2: 90,290,876 (GRCm39)	I528S	probably damaging	Het
Reg1	A	G	6: 78,405,196 (GRCm39)	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,657,217 (GRCm39)	N457S	probably benign	Het
Rusf1	C	T	7: 127,875,645 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,396,614 (GRCm39)	K93R	probably benign	Het
Sec16a	A	G	2: 26,329,531 (GRCm39)	V828A	probably benign	Het
Sec23b	T	A	2: 144,423,873 (GRCm39)	D507E	probably benign	Het
Sirt4	A	T	5: 115,620,850 (GRCm39)	F107L	probably benign	Het
Slc14a2	A	T	18: 78,193,616 (GRCm39)	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,208,176 (GRCm39)	S229P	probably benign	Het
Slc37a3	A	T	6: 39,329,651 (GRCm39)	C185*	probably null	Het
Slc5a2	A	T	7: 127,870,982 (GRCm39)	*154C	probably null	Het
Snx17	A	G	5: 31,353,138 (GRCm39)	S42G	possibly damaging	Het
Tgm6	T	C	2: 129,983,113 (GRCm39)	V234A	probably damaging	Het
Thbs4	A	G	13: 92,927,207 (GRCm39)	M94T	probably benign	Het
Thtpa	A	G	14: 55,309,605 (GRCm39)		probably benign	Het
Tie1	T	C	4: 118,340,952 (GRCm39)	E343G	probably damaging	Het
Tmem145	A	G	7: 25,008,027 (GRCm39)	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,685,858 (GRCm39)	S170G	probably benign	Het
Tnk2	T	A	16: 32,499,283 (GRCm39)	D865E	probably damaging	Het
Ttll8	T	C	15: 88,809,785 (GRCm39)	E337G	probably benign	Het
Ttn	G	A	2: 76,697,790 (GRCm39)		probably benign	Het
Txndc2	T	A	17: 65,945,055 (GRCm39)	H374L	probably benign	Het
Unc80	G	T	1: 66,713,891 (GRCm39)		probably null	Het
Vmn2r23	G	A	6: 123,710,308 (GRCm39)	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,486,116 (GRCm39)	F391L	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zfp180	C	T	7: 23,805,503 (GRCm39)	R641C	probably damaging	Het
Zfp979	A	T	4: 147,698,371 (GRCm39)	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het
Zswim5	T	A	4: 116,842,883 (GRCm39)	M876K	possibly damaging	Het

Other mutations in Tubgcp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tubgcp6	APN	15	88,988,211 (GRCm39)	missense	probably benign	0.00
IGL00556:Tubgcp6	APN	15	88,985,165 (GRCm39)	missense	probably damaging	1.00
IGL00943:Tubgcp6	APN	15	89,006,600 (GRCm39)	nonsense	probably null
IGL01284:Tubgcp6	APN	15	88,994,258 (GRCm39)	missense	probably damaging	1.00
IGL01363:Tubgcp6	APN	15	88,991,728 (GRCm39)	missense	probably damaging	1.00
IGL01386:Tubgcp6	APN	15	88,992,199 (GRCm39)	nonsense	probably null
IGL01792:Tubgcp6	APN	15	88,985,484 (GRCm39)	missense	probably damaging	1.00
IGL01866:Tubgcp6	APN	15	88,987,691 (GRCm39)	missense	probably benign	0.01
IGL02596:Tubgcp6	APN	15	88,985,117 (GRCm39)	missense	probably damaging	1.00
IGL02858:Tubgcp6	APN	15	88,986,518 (GRCm39)	nonsense	probably null
IGL02873:Tubgcp6	APN	15	88,988,027 (GRCm39)	missense	probably benign	0.00
IGL03400:Tubgcp6	APN	15	88,992,302 (GRCm39)	unclassified	probably benign
IGL02796:Tubgcp6	UTSW	15	89,006,593 (GRCm39)	missense	probably benign	0.03
R0010:Tubgcp6	UTSW	15	88,987,386 (GRCm39)	missense	probably benign	0.00
R0308:Tubgcp6	UTSW	15	89,006,639 (GRCm39)	missense	possibly damaging	0.85
R0440:Tubgcp6	UTSW	15	88,987,268 (GRCm39)	missense	probably benign	0.12
R0631:Tubgcp6	UTSW	15	88,985,190 (GRCm39)	missense	probably damaging	1.00
R1653:Tubgcp6	UTSW	15	88,991,645 (GRCm39)	missense	probably damaging	1.00
R1901:Tubgcp6	UTSW	15	89,000,444 (GRCm39)	missense	possibly damaging	0.68
R1902:Tubgcp6	UTSW	15	89,000,444 (GRCm39)	missense	possibly damaging	0.68
R1905:Tubgcp6	UTSW	15	88,984,811 (GRCm39)	missense	probably damaging	1.00
R2005:Tubgcp6	UTSW	15	88,988,369 (GRCm39)	missense	probably benign	0.01
R2067:Tubgcp6	UTSW	15	88,988,692 (GRCm39)	missense	probably benign	0.03
R2083:Tubgcp6	UTSW	15	89,006,579 (GRCm39)	missense	probably damaging	1.00
R2285:Tubgcp6	UTSW	15	89,006,677 (GRCm39)	missense	probably damaging	1.00
R2401:Tubgcp6	UTSW	15	88,987,187 (GRCm39)	missense	probably benign	0.22
R2436:Tubgcp6	UTSW	15	88,986,568 (GRCm39)	missense	probably benign	0.37
R3017:Tubgcp6	UTSW	15	88,987,285 (GRCm39)	nonsense	probably null
R3054:Tubgcp6	UTSW	15	89,006,806 (GRCm39)	missense	probably damaging	1.00
R3932:Tubgcp6	UTSW	15	88,988,617 (GRCm39)	unclassified	probably benign
R4350:Tubgcp6	UTSW	15	88,988,198 (GRCm39)	missense	probably benign	0.00
R4472:Tubgcp6	UTSW	15	88,987,857 (GRCm39)	missense	probably damaging	0.98
R4864:Tubgcp6	UTSW	15	88,988,021 (GRCm39)	missense	probably benign
R4937:Tubgcp6	UTSW	15	88,985,752 (GRCm39)	missense	probably damaging	0.98
R4996:Tubgcp6	UTSW	15	88,987,693 (GRCm39)	missense	possibly damaging	0.89
R5044:Tubgcp6	UTSW	15	88,983,748 (GRCm39)	unclassified	probably benign
R5122:Tubgcp6	UTSW	15	89,000,306 (GRCm39)	missense	probably damaging	1.00
R5607:Tubgcp6	UTSW	15	88,995,353 (GRCm39)	missense	probably benign	0.02
R5608:Tubgcp6	UTSW	15	88,995,353 (GRCm39)	missense	probably benign	0.02
R5653:Tubgcp6	UTSW	15	88,992,815 (GRCm39)	missense	possibly damaging	0.47
R5886:Tubgcp6	UTSW	15	88,987,450 (GRCm39)	missense	possibly damaging	0.82
R5945:Tubgcp6	UTSW	15	88,993,420 (GRCm39)	splice site	probably null
R6111:Tubgcp6	UTSW	15	88,985,123 (GRCm39)	missense	possibly damaging	0.83
R6195:Tubgcp6	UTSW	15	89,006,994 (GRCm39)	missense	probably benign	0.01
R6792:Tubgcp6	UTSW	15	89,007,080 (GRCm39)	start gained	probably benign
R7074:Tubgcp6	UTSW	15	89,004,839 (GRCm39)	missense	probably damaging	1.00
R7103:Tubgcp6	UTSW	15	88,985,232 (GRCm39)	missense	probably damaging	0.96
R7274:Tubgcp6	UTSW	15	88,987,173 (GRCm39)	nonsense	probably null
R7275:Tubgcp6	UTSW	15	88,987,146 (GRCm39)	nonsense	probably null
R7514:Tubgcp6	UTSW	15	89,004,728 (GRCm39)	missense	probably damaging	1.00
R7540:Tubgcp6	UTSW	15	88,986,526 (GRCm39)	missense	possibly damaging	0.48
R7571:Tubgcp6	UTSW	15	88,984,925 (GRCm39)	missense	probably damaging	1.00
R7706:Tubgcp6	UTSW	15	88,988,426 (GRCm39)	missense	probably benign
R7721:Tubgcp6	UTSW	15	88,985,604 (GRCm39)	missense	probably damaging	1.00
R7980:Tubgcp6	UTSW	15	88,986,232 (GRCm39)	missense	probably benign	0.03
R7996:Tubgcp6	UTSW	15	88,993,231 (GRCm39)	missense	possibly damaging	0.92
R8095:Tubgcp6	UTSW	15	89,006,977 (GRCm39)	missense	probably benign	0.07
R8191:Tubgcp6	UTSW	15	89,004,843 (GRCm39)	missense	probably damaging	1.00
R8510:Tubgcp6	UTSW	15	88,987,152 (GRCm39)	missense	possibly damaging	0.91
R8839:Tubgcp6	UTSW	15	88,987,681 (GRCm39)	missense	possibly damaging	0.91
R8862:Tubgcp6	UTSW	15	89,006,824 (GRCm39)	missense	probably benign	0.03
R9044:Tubgcp6	UTSW	15	88,987,397 (GRCm39)	missense	possibly damaging	0.89
R9321:Tubgcp6	UTSW	15	88,992,186 (GRCm39)	missense	probably damaging	1.00
R9402:Tubgcp6	UTSW	15	88,987,064 (GRCm39)	missense	probably benign	0.01
R9428:Tubgcp6	UTSW	15	88,985,100 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGATTTAAACCAGCACCACGGG -3'
(R):5'- CCTGAGCGAGTTGAGTGGTAAG -3'

Sequencing Primer
(F):5'- GGACCTGCAGCCATACAG -3'
(R):5'- TAAGTGCAGGTCCAGGCCTTTC -3'

Posted On

2016-05-10