Mutagenetix > Incidental Mutation

Incidental Mutation 'R5706:Tubgcp2'

451977

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp2

Ensembl Gene

ENSMUSG00000025474

Gene Name

tubulin, gamma complex associated protein 2

Synonyms

1700022B05Rik

MMRRC Submission

043331-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139995955-140036669 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 140032225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 78 (E78*)

Ref Sequence

ENSEMBL: ENSMUSP00000147766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026547] [ENSMUST00000168194] [ENSMUST00000209574] [ENSMUST00000210224] [ENSMUST00000211261] [ENSMUST00000211638] [ENSMUST00000211789]

AlphaFold

Q921G8

Predicted Effect

probably benign
Transcript: ENSMUST00000026547
AA Change: R58L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: R58L

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: ENSMUST00000168194

SMART Domains

Protein: ENSMUSP00000129154
Gene: ENSMUSG00000025470

Domain	Start	End	E-Value	Type
low complexity region	32	45	N/A	INTRINSIC
ZnF_C2H2	80	105	4.23e0	SMART
ZnF_C2H2	107	130	1.36e1	SMART
ZnF_C2H2	144	169	3.52e-1	SMART
low complexity region	186	205	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209574
AA Change: R58L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210089

Predicted Effect

probably damaging
Transcript: ENSMUST00000210224
AA Change: R58L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210419

Predicted Effect

probably benign
Transcript: ENSMUST00000210882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211186

Predicted Effect

probably null
Transcript: ENSMUST00000211261
AA Change: E78*

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211638
AA Change: R58L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000211789

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	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
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
R7523:Tubgcp2	UTSW	7	140006870	missense	probably benign	0.08
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
R8717:Tubgcp2	UTSW	7	139996792	missense	probably benign
R8886:Tubgcp2	UTSW	7	140004969	missense	probably benign	0.04
R9222:Tubgcp2	UTSW	7	140008052	missense	probably damaging	1.00
R9603:Tubgcp2	UTSW	7	140004876	missense	probably benign	0.00
R9666:Tubgcp2	UTSW	7	140007923	missense	probably damaging	1.00
X0004:Tubgcp2	UTSW	7	140007021	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ATGCCTTATGTGCATTTACATCTGC -3'
(R):5'- CGCGGACCATAGACATTAACTTG -3'

Sequencing Primer
(F):5'- TCTCACCGATTGGCAGCTGTG -3'
(R):5'- AGACATTAACTTGCTGTTTATTTTGG -3'

Posted On

2017-01-03