Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Tubgcp6'

58014

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp6

Ensembl Gene

ENSMUSG00000051786

Gene Name

tubulin, gamma complex associated protein 6

Synonyms

MMRRC Submission

038820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89098357-89123112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89100987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 1633 (Y1633D)

Ref Sequence

ENSEMBL: ENSMUSP00000104977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082439] [ENSMUST00000109353] [ENSMUST00000130700] [ENSMUST00000166480]

AlphaFold

G5E8P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041656
AA Change: Y1625D

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

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: Y1625D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000082439

SMART Domains

Protein: ENSMUSP00000081020
Gene: ENSMUSG00000035757

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Pfam:UPF0061	79	625	8.3e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109353
AA Change: Y1633D

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

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: Y1633D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130700

SMART Domains

Protein: ENSMUSP00000138382
Gene: ENSMUSG00000035757

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
Pfam:UPF0061	80	241	1.5e-39	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

noncoding transcript
Transcript: ENSMUST00000164717

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

probably benign
Transcript: ENSMUST00000169069

SMART Domains

Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169208

Predicted Effect

probably benign
Transcript: ENSMUST00000170877

Meta Mutation Damage Score

0.8087

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	T	A	9: 51,101,953 (GRCm38)	R6S	probably benign	Het
Aadat	T	C	8: 60,529,445 (GRCm38)		probably benign	Het
Afap1l2	T	C	19: 56,916,085 (GRCm38)	E594G	probably benign	Het
Ak8	T	G	2: 28,735,665 (GRCm38)	I240S	probably damaging	Het
Akap13	T	C	7: 75,614,996 (GRCm38)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,089,373 (GRCm38)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,894,879 (GRCm38)	I36F	probably damaging	Het
Antxrl	T	A	14: 34,058,801 (GRCm38)		probably null	Het
Arhgef2	G	C	3: 88,634,436 (GRCm38)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,689,170 (GRCm38)	I1098T	unknown	Het
Atr	T	C	9: 95,874,777 (GRCm38)	V903A	possibly damaging	Het
AW549877	A	G	15: 3,986,489 (GRCm38)		probably benign	Het
B3gnt6	C	A	7: 98,193,692 (GRCm38)	A354S	probably benign	Het
Bnc1	A	T	7: 81,974,366 (GRCm38)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,933,647 (GRCm38)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,803,805 (GRCm38)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,432,411 (GRCm38)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,493,752 (GRCm38)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,278,459 (GRCm38)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,737,088 (GRCm38)		probably null	Het
Cd177	T	C	7: 24,756,686 (GRCm38)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,354,684 (GRCm38)	Y497*	probably null	Het
Chmp2a	T	C	7: 13,032,444 (GRCm38)	E107G	probably damaging	Het
Chrna2	T	G	14: 66,149,308 (GRCm38)	V301G	probably benign	Het
Chrna7	A	G	7: 63,099,643 (GRCm38)	C364R	probably benign	Het
Cltc	G	T	11: 86,712,613 (GRCm38)	L796I	probably benign	Het
Col12a1	T	C	9: 79,703,376 (GRCm38)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,887,350 (GRCm38)	Q270*	probably null	Het
Col6a1	C	T	10: 76,709,735 (GRCm38)	V968M	probably benign	Het
Copb1	C	A	7: 114,233,282 (GRCm38)	V511F	probably benign	Het
Daw1	C	G	1: 83,197,260 (GRCm38)	S160R	probably damaging	Het
Ddx46	A	G	13: 55,639,777 (GRCm38)		probably benign	Het
Depdc7	T	C	2: 104,721,987 (GRCm38)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 131,097,653 (GRCm38)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,240,992 (GRCm38)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,651,624 (GRCm38)	F63I	probably benign	Het
Edc4	C	A	8: 105,890,792 (GRCm38)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,884,358 (GRCm38)	K129M	probably damaging	Het
Emx2	A	G	19: 59,464,028 (GRCm38)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,659,009 (GRCm38)		probably benign	Het
Exoc3l4	A	G	12: 111,427,966 (GRCm38)	K507E	probably benign	Het
Fanci	T	A	7: 79,406,205 (GRCm38)	V195E	probably damaging	Het
Fgfr2	T	G	7: 130,227,239 (GRCm38)		probably benign	Het
Frem1	A	G	4: 82,972,165 (GRCm38)	S1007P	probably damaging	Het
Fry	T	C	5: 150,496,352 (GRCm38)	I993T	possibly damaging	Het
Fst	A	G	13: 114,454,502 (GRCm38)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,010 (GRCm38)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,941,221 (GRCm38)	P24L	probably damaging	Het
Gja3	T	C	14: 57,036,762 (GRCm38)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,273,076 (GRCm38)	D74G	unknown	Het
Gm12689	G	T	4: 99,296,021 (GRCm38)	G37V	unknown	Het
Gm5424	C	T	10: 62,071,534 (GRCm38)		noncoding transcript	Het
Hephl1	T	C	9: 15,084,524 (GRCm38)	E434G	probably benign	Het
Htatip2	T	C	7: 49,773,311 (GRCm38)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,717,274 (GRCm38)		probably null	Het
Ints2	T	C	11: 86,233,196 (GRCm38)	I589V	probably benign	Het
Itgae	T	A	11: 73,114,907 (GRCm38)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,509,784 (GRCm38)		probably benign	Het
Kif11	A	G	19: 37,413,117 (GRCm38)		probably benign	Het
Kif13a	A	G	13: 46,778,888 (GRCm38)		probably benign	Het
Kif18a	T	A	2: 109,298,322 (GRCm38)		probably benign	Het
Klhl29	T	C	12: 5,094,883 (GRCm38)	T406A	probably benign	Het
Litaf	A	T	16: 10,966,412 (GRCm38)		probably benign	Het
Lmntd1	T	A	6: 145,430,000 (GRCm38)	I71F	probably benign	Het
Lrit3	A	C	3: 129,788,555 (GRCm38)	C594W	probably damaging	Het
Lrp6	T	A	6: 134,479,775 (GRCm38)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,540,119 (GRCm38)		probably benign	Het
Macf1	A	T	4: 123,455,524 (GRCm38)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,835,955 (GRCm38)	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,487,180 (GRCm38)	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,790,474 (GRCm38)		probably benign	Het
Mgat4b	T	C	11: 50,230,763 (GRCm38)	S69P	probably damaging	Het
Mki67	A	T	7: 135,704,388 (GRCm38)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,252,954 (GRCm38)	T201I	probably damaging	Het
Msh4	G	C	3: 153,866,420 (GRCm38)	D774E	probably benign	Het
Myg1	C	T	15: 102,331,849 (GRCm38)	R37C	probably benign	Het
Myrf	C	A	19: 10,228,882 (GRCm38)	A57S	probably benign	Het
Ndst1	G	A	18: 60,700,359 (GRCm38)		probably benign	Het
Nedd4l	A	T	18: 65,208,503 (GRCm38)		probably benign	Het
Neil2	T	A	14: 63,183,400 (GRCm38)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,590,115 (GRCm38)	D26V	probably benign	Het
Nt5c	A	G	11: 115,490,714 (GRCm38)		probably null	Het
Olfr1095	T	C	2: 86,850,967 (GRCm38)	T244A	probably benign	Het
Olfr1369-ps1	G	T	13: 21,115,908 (GRCm38)	C72F	probably damaging	Het
Olfr202	A	G	16: 59,284,207 (GRCm38)	C97R	possibly damaging	Het
Olfr372	T	A	8: 72,058,322 (GRCm38)	I214N	probably damaging	Het
Olfr538	T	G	7: 140,574,507 (GRCm38)	M118R	probably damaging	Het
Ovch2	A	G	7: 107,782,021 (GRCm38)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,205,203 (GRCm38)	S262P	probably benign	Het
Pla2g6	T	A	15: 79,306,396 (GRCm38)	H322L	probably damaging	Het
Plch1	A	T	3: 63,699,219 (GRCm38)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 105,379,302 (GRCm38)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,112,419 (GRCm38)	D747G	possibly damaging	Het
Poln	C	A	5: 34,118,958 (GRCm38)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,025,754 (GRCm38)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 54,876,616 (GRCm38)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,710,182 (GRCm38)	P135S	probably benign	Het
Ptgs2	G	A	1: 150,104,537 (GRCm38)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,177,751 (GRCm38)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm38)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,221,989 (GRCm38)	I84T	probably damaging	Het
Rab44	A	G	17: 29,139,144 (GRCm38)	D102G	possibly damaging	Het
Rnf125	A	T	18: 20,979,083 (GRCm38)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,560,024 (GRCm38)	F392L	probably damaging	Het
Rttn	A	G	18: 88,989,546 (GRCm38)	N435S	probably benign	Het
Scn8a	A	G	15: 101,035,537 (GRCm38)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,285,123 (GRCm38)		probably benign	Het
Sgsm3	A	T	15: 81,011,736 (GRCm38)	*751C	probably null	Het
Slc35c2	A	C	2: 165,280,929 (GRCm38)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,658,984 (GRCm38)		probably benign	Het
Snapc3	T	A	4: 83,417,802 (GRCm38)	V17D	probably damaging	Het
Snta1	G	T	2: 154,377,072 (GRCm38)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,739,986 (GRCm38)	D1334G	probably benign	Het
Stard5	A	G	7: 83,632,757 (GRCm38)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,784,358 (GRCm38)	N731I	probably benign	Het
Tmem135	T	A	7: 89,143,788 (GRCm38)	K413*	probably null	Het
Tmem38a	G	A	8: 72,580,018 (GRCm38)	V114I	probably benign	Het
Tpr	A	G	1: 150,422,531 (GRCm38)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,539,980 (GRCm38)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,755,296 (GRCm38)		probably null	Het
Tuba3b	A	G	6: 145,619,576 (GRCm38)	T257A	probably damaging	Het
Txnl1	C	T	18: 63,671,573 (GRCm38)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm38)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 86,163,270 (GRCm38)	S514C	probably null	Het
Whrn	G	A	4: 63,419,489 (GRCm38)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 57,857,640 (GRCm38)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm38)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,645,290 (GRCm38)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,537,302 (GRCm38)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 122,336,874 (GRCm38)		probably benign	Het

Other mutations in Tubgcp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tubgcp6	APN	15	89,104,008 (GRCm38)	missense	probably benign	0.00
IGL00556:Tubgcp6	APN	15	89,100,962 (GRCm38)	missense	probably damaging	1.00
IGL00943:Tubgcp6	APN	15	89,122,397 (GRCm38)	nonsense	probably null
IGL01284:Tubgcp6	APN	15	89,110,055 (GRCm38)	missense	probably damaging	1.00
IGL01363:Tubgcp6	APN	15	89,107,525 (GRCm38)	missense	probably damaging	1.00
IGL01386:Tubgcp6	APN	15	89,107,996 (GRCm38)	nonsense	probably null
IGL01792:Tubgcp6	APN	15	89,101,281 (GRCm38)	missense	probably damaging	1.00
IGL01866:Tubgcp6	APN	15	89,103,488 (GRCm38)	missense	probably benign	0.01
IGL02596:Tubgcp6	APN	15	89,100,914 (GRCm38)	missense	probably damaging	1.00
IGL02858:Tubgcp6	APN	15	89,102,315 (GRCm38)	nonsense	probably null
IGL02873:Tubgcp6	APN	15	89,103,824 (GRCm38)	missense	probably benign	0.00
IGL03400:Tubgcp6	APN	15	89,108,099 (GRCm38)	unclassified	probably benign
IGL02796:Tubgcp6	UTSW	15	89,122,390 (GRCm38)	missense	probably benign	0.03
R0010:Tubgcp6	UTSW	15	89,103,183 (GRCm38)	missense	probably benign	0.00
R0308:Tubgcp6	UTSW	15	89,122,436 (GRCm38)	missense	possibly damaging	0.85
R0440:Tubgcp6	UTSW	15	89,103,065 (GRCm38)	missense	probably benign	0.12
R1653:Tubgcp6	UTSW	15	89,107,442 (GRCm38)	missense	probably damaging	1.00
R1901:Tubgcp6	UTSW	15	89,116,241 (GRCm38)	missense	possibly damaging	0.68
R1902:Tubgcp6	UTSW	15	89,116,241 (GRCm38)	missense	possibly damaging	0.68
R1905:Tubgcp6	UTSW	15	89,100,608 (GRCm38)	missense	probably damaging	1.00
R2005:Tubgcp6	UTSW	15	89,104,166 (GRCm38)	missense	probably benign	0.01
R2067:Tubgcp6	UTSW	15	89,104,489 (GRCm38)	missense	probably benign	0.03
R2083:Tubgcp6	UTSW	15	89,122,376 (GRCm38)	missense	probably damaging	1.00
R2285:Tubgcp6	UTSW	15	89,122,474 (GRCm38)	missense	probably damaging	1.00
R2401:Tubgcp6	UTSW	15	89,102,984 (GRCm38)	missense	probably benign	0.22
R2436:Tubgcp6	UTSW	15	89,102,365 (GRCm38)	missense	probably benign	0.37
R3017:Tubgcp6	UTSW	15	89,103,082 (GRCm38)	nonsense	probably null
R3054:Tubgcp6	UTSW	15	89,122,603 (GRCm38)	missense	probably damaging	1.00
R3932:Tubgcp6	UTSW	15	89,104,414 (GRCm38)	unclassified	probably benign
R4350:Tubgcp6	UTSW	15	89,103,995 (GRCm38)	missense	probably benign	0.00
R4472:Tubgcp6	UTSW	15	89,103,654 (GRCm38)	missense	probably damaging	0.98
R4864:Tubgcp6	UTSW	15	89,103,818 (GRCm38)	missense	probably benign
R4937:Tubgcp6	UTSW	15	89,101,549 (GRCm38)	missense	probably damaging	0.98
R4983:Tubgcp6	UTSW	15	89,106,291 (GRCm38)	missense	probably damaging	1.00
R4996:Tubgcp6	UTSW	15	89,103,490 (GRCm38)	missense	possibly damaging	0.89
R5044:Tubgcp6	UTSW	15	89,099,545 (GRCm38)	unclassified	probably benign
R5122:Tubgcp6	UTSW	15	89,116,103 (GRCm38)	missense	probably damaging	1.00
R5607:Tubgcp6	UTSW	15	89,111,150 (GRCm38)	missense	probably benign	0.02
R5608:Tubgcp6	UTSW	15	89,111,150 (GRCm38)	missense	probably benign	0.02
R5653:Tubgcp6	UTSW	15	89,108,612 (GRCm38)	missense	possibly damaging	0.47
R5886:Tubgcp6	UTSW	15	89,103,247 (GRCm38)	missense	possibly damaging	0.82
R5945:Tubgcp6	UTSW	15	89,109,217 (GRCm38)	splice site	probably null
R6111:Tubgcp6	UTSW	15	89,100,920 (GRCm38)	missense	possibly damaging	0.83
R6195:Tubgcp6	UTSW	15	89,122,791 (GRCm38)	missense	probably benign	0.01
R6792:Tubgcp6	UTSW	15	89,122,877 (GRCm38)	start gained	probably benign
R7074:Tubgcp6	UTSW	15	89,120,636 (GRCm38)	missense	probably damaging	1.00
R7103:Tubgcp6	UTSW	15	89,101,029 (GRCm38)	missense	probably damaging	0.96
R7274:Tubgcp6	UTSW	15	89,102,970 (GRCm38)	nonsense	probably null
R7275:Tubgcp6	UTSW	15	89,102,943 (GRCm38)	nonsense	probably null
R7514:Tubgcp6	UTSW	15	89,120,525 (GRCm38)	missense	probably damaging	1.00
R7540:Tubgcp6	UTSW	15	89,102,323 (GRCm38)	missense	possibly damaging	0.48
R7571:Tubgcp6	UTSW	15	89,100,722 (GRCm38)	missense	probably damaging	1.00
R7706:Tubgcp6	UTSW	15	89,104,223 (GRCm38)	missense	probably benign
R7721:Tubgcp6	UTSW	15	89,101,401 (GRCm38)	missense	probably damaging	1.00
R7980:Tubgcp6	UTSW	15	89,102,029 (GRCm38)	missense	probably benign	0.03
R7996:Tubgcp6	UTSW	15	89,109,028 (GRCm38)	missense	possibly damaging	0.92
R8095:Tubgcp6	UTSW	15	89,122,774 (GRCm38)	missense	probably benign	0.07
R8191:Tubgcp6	UTSW	15	89,120,640 (GRCm38)	missense	probably damaging	1.00
R8510:Tubgcp6	UTSW	15	89,102,949 (GRCm38)	missense	possibly damaging	0.91
R8839:Tubgcp6	UTSW	15	89,103,478 (GRCm38)	missense	possibly damaging	0.91
R8862:Tubgcp6	UTSW	15	89,122,621 (GRCm38)	missense	probably benign	0.03
R9044:Tubgcp6	UTSW	15	89,103,194 (GRCm38)	missense	possibly damaging	0.89
R9321:Tubgcp6	UTSW	15	89,107,983 (GRCm38)	missense	probably damaging	1.00
R9402:Tubgcp6	UTSW	15	89,102,861 (GRCm38)	missense	probably benign	0.01
R9428:Tubgcp6	UTSW	15	89,100,897 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAGGCTGAAGATGCTATGGATG -3'
(R):5'- GCTGAAGCTCATGATGTGGACACTC -3'

Sequencing Primer
(F):5'- AGATGCTATGGATGATGTTCATGAC -3'
(R):5'- TGTGGACACTCAAAGACATCTG -3'

Posted On

2013-07-11