Mutagenetix > Incidental Mutations

Incidental Mutation 'R7523:Tubgcp2'

582785

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp2

Ensembl Gene

ENSMUSG00000025474

Gene Name

tubulin, gamma complex associated protein 2

Synonyms

1700022B05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139995955-140036669 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140006870 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 399 (I399T)

Ref Sequence

ENSEMBL: ENSMUSP00000026547 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026547
AA Change: I399T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: I399T

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

probably benign
Transcript: ENSMUST00000210224

Predicted Effect

probably benign
Transcript: ENSMUST00000211638
AA Change: I399T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.2550

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,662,480	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,739,329	Q463L	probably benign	Het
Ano4	C	A	10: 88,971,395	E775*	probably null	Het
Atp12a	T	C	14: 56,365,968	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,391,628	I144M	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923		probably null	Het
Dazl	G	A	17: 50,287,541	T162I	probably damaging	Het
Dnah10	A	G	5: 124,747,739	K653R	probably damaging	Het
Exosc10	A	T	4: 148,563,842		probably null	Het
Fam96b	G	A	8: 104,641,772		probably benign	Het
Fbn2	T	C	18: 58,066,080	D1372G	probably benign	Het
Fxr1	T	C	3: 34,039,543	V23A	probably benign	Het
Gmps	T	C	3: 64,011,666	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,690,792	Y146N	probably damaging	Het
Krt78	T	C	15: 101,946,601	Y925C	not run	Het
Lrp1b	C	T	2: 41,511,461	V394M		Het
Ltbp2	T	C	12: 84,791,034	T1211A	probably benign	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270		probably null	Het
Myo15b	A	T	11: 115,890,858	I2798F	unknown	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Nectin2	A	G	7: 19,730,112	V314A	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Olfr1045	T	C	2: 86,198,045	K236E	probably damaging	Het
Olfr15	T	C	16: 3,839,699	V242A	probably benign	Het
Pdcd4	G	T	19: 53,910,948	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,293,655	R275W	probably damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159	V11A	probably benign	Het
Ptpn22	A	G	3: 103,912,015	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130	I1383S	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Sf3b3	A	G	8: 110,813,720	I1023T	probably benign	Het
Slc44a2	A	G	9: 21,345,992	E411G	probably null	Het
Stard9	T	C	2: 120,699,597	Y2112H	probably benign	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tenm2	A	T	11: 36,078,581		probably null	Het
Tle1	A	T	4: 72,145,418	S199R	possibly damaging	Het
Ubr5	T	C	15: 38,004,055	N1344S		Het
Vmn2r114	A	G	17: 23,310,637	F164L	probably benign	Het
Vps13a	G	T	19: 16,703,789	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,610,512	V389A	probably benign	Het
Zfp811	A	T	17: 32,797,752	I438N	probably benign	Het
Zfp90	A	G	8: 106,423,913	D86G	probably benign	Het

Other mutations in Tubgcp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tubgcp2	APN	7	140031022	missense	possibly damaging	0.58
IGL00791:Tubgcp2	APN	7	140001498	missense	probably damaging	0.97
IGL02643:Tubgcp2	APN	7	139996154	missense	probably damaging	1.00
IGL02710:Tubgcp2	APN	7	140004984	splice site	probably benign
IGL03352:Tubgcp2	APN	7	140001027	missense	probably benign	0.01
R0189:Tubgcp2	UTSW	7	140001605	splice site	probably benign
R0333:Tubgcp2	UTSW	7	139999347	missense	probably damaging	1.00
R0379:Tubgcp2	UTSW	7	140032192	missense	probably damaging	1.00
R1051:Tubgcp2	UTSW	7	139998896	missense	probably benign	0.26
R1192:Tubgcp2	UTSW	7	140029838	missense	probably benign
R1528:Tubgcp2	UTSW	7	140033783	unclassified	probably benign
R1728:Tubgcp2	UTSW	7	139998055	missense	probably benign
R1729:Tubgcp2	UTSW	7	139998055	missense	probably benign
R1784:Tubgcp2	UTSW	7	139998055	missense	probably benign
R1888:Tubgcp2	UTSW	7	139999270	missense	probably damaging	1.00
R1888:Tubgcp2	UTSW	7	140006156	missense	probably damaging	1.00
R1888:Tubgcp2	UTSW	7	139999270	missense	probably damaging	1.00
R1888:Tubgcp2	UTSW	7	140006156	missense	probably damaging	1.00
R1967:Tubgcp2	UTSW	7	140006153	missense	probably benign	0.09
R4514:Tubgcp2	UTSW	7	139996071	missense	possibly damaging	0.51
R4545:Tubgcp2	UTSW	7	139996071	missense	possibly damaging	0.51
R4774:Tubgcp2	UTSW	7	139996161	missense	probably damaging	1.00
R4790:Tubgcp2	UTSW	7	139999288	missense	probably damaging	1.00
R5114:Tubgcp2	UTSW	7	140007441	missense	possibly damaging	0.91
R5435:Tubgcp2	UTSW	7	139996072	missense	possibly damaging	0.51
R5531:Tubgcp2	UTSW	7	140005024	splice site	probably null
R5699:Tubgcp2	UTSW	7	139998788	missense	possibly damaging	0.53
R5706:Tubgcp2	UTSW	7	140032225	nonsense	probably null
R6123:Tubgcp2	UTSW	7	140007597	missense	probably damaging	1.00
R7153:Tubgcp2	UTSW	7	140001036	missense	probably benign
R7165:Tubgcp2	UTSW	7	140005361	missense	probably damaging	0.99
R7213:Tubgcp2	UTSW	7	140008014	missense	probably benign	0.28
R7424:Tubgcp2	UTSW	7	140007924	missense	possibly damaging	0.65
R7511:Tubgcp2	UTSW	7	140004880	missense	probably benign	0.00
R7612:Tubgcp2	UTSW	7	140001051	missense	probably damaging	1.00
R7951:Tubgcp2	UTSW	7	140007980	missense	possibly damaging	0.69
R8220:Tubgcp2	UTSW	7	140006140	missense	possibly damaging	0.92
R8481:Tubgcp2	UTSW	7	140033675	missense	probably damaging	1.00
X0004:Tubgcp2	UTSW	7	140007021	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ATTTAGACACCAGTGTTCCTCAC -3'
(R):5'- TTTTGGTAGTGAGCCACCCC -3'

Sequencing Primer
(F):5'- GTGTTCCTCACTCAACAGGATAAAG -3'
(R):5'- GGTAGTGAGCCACCCCTTTCTAC -3'

Posted On

2019-10-17