Mutagenetix > Incidental Mutation

Incidental Mutation 'R2148:Tubgcp5'

234012

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

040151-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2148 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55799511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 152 (E152G)

Ref Sequence

ENSEMBL: ENSMUSP00000146033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191] [ENSMUST00000206454]

AlphaFold

Q8BKN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032627
AA Change: E152G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: E152G

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

possibly damaging
Transcript: ENSMUST00000205796
AA Change: E152G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206191
AA Change: E152G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000206454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Abca13	A	G	11: 9,615,764	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,300,949	M228K	probably damaging	Het
Agbl1	T	G	7: 76,414,717		probably null	Het
Ahi1	T	G	10: 20,970,976	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
Bcor	G	A	X: 12,057,623	A578V	possibly damaging	Het
Bop1	A	G	15: 76,455,287	V286A	probably damaging	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cacna1a	A	T	8: 84,629,675	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Cnot2	A	G	10: 116,506,280	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,383,474	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dgkd	T	G	1: 87,881,921	N110K	probably damaging	Het
Dhx8	A	T	11: 101,738,377	R198*	probably null	Het
Dnah8	A	T	17: 30,737,258	I2071F	probably damaging	Het
Dsc3	C	T	18: 19,965,638	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333	F525L	possibly damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gpatch1	A	G	7: 35,299,276	V343A	probably benign	Het
Gpr139	A	G	7: 119,144,969	V131A	probably benign	Het
Hamp	T	C	7: 30,942,712	T34A	possibly damaging	Het
Homer2	T	G	7: 81,624,295	D51A	possibly damaging	Het
Hspa1l	C	T	17: 34,977,390	A135V	probably damaging	Het
Igsf10	A	G	3: 59,336,577	M112T	possibly damaging	Het
Ikbkb	A	T	8: 22,682,745	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,780,768	I158F	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,327,904	V275A	probably benign	Het
Lhx1	A	T	11: 84,519,821	S226T	probably benign	Het
Llcfc1	G	A	6: 41,685,221	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,604,192		probably null	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Mak	T	C	13: 41,042,037	K400R	probably benign	Het
Mgat4c	T	C	10: 102,388,929	F335L	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mtor	T	C	4: 148,456,012	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,180,147	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,122,907	K506*	probably null	Het
Olfr73	C	A	2: 88,034,599	C180F	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Phkb	A	G	8: 86,017,486	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,056,325	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,414,220		probably null	Het
Plod3	C	T	5: 136,987,773	R30*	probably null	Het
Ppfia4	T	C	1: 134,312,634	I591V	probably benign	Het
Prickle2	A	G	6: 92,425,671	L112P	probably damaging	Het
Ptgs2	G	T	1: 150,105,714	A583S	probably benign	Het
Pycr2	T	C	1: 180,906,848	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,431,887	D540G	probably benign	Het
Rasal1	T	A	5: 120,662,031	I150N	probably damaging	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Sacs	T	C	14: 61,173,378	L34P	probably damaging	Het
Sema3d	A	G	5: 12,484,959	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Slc19a2	T	C	1: 164,262,088	W158R	probably damaging	Het
Sorbs1	A	T	19: 40,376,824	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,586,447	D91V	probably damaging	Het
Tead3	A	G	17: 28,333,664	F187L	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem132c	T	A	5: 127,462,962	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,207,501	Q111L	probably damaging	Het
Trap1	T	C	16: 4,060,760	D236G	probably damaging	Het
Trim45	T	A	3: 100,932,044	L754*	probably null	Het
Uaca	A	T	9: 60,869,679	L447F	probably damaging	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Wdr11	A	G	7: 129,629,083		probably null	Het
Zfp462	T	A	4: 55,013,670	S1879T	probably benign	Het
Zfr2	T	G	10: 81,242,116	V259G	probably benign	Het

Other mutations in Tubgcp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Tubgcp5	APN	7	55806595	missense	possibly damaging	0.91
IGL01291:Tubgcp5	APN	7	55808529	missense	possibly damaging	0.83
IGL01343:Tubgcp5	APN	7	55796031	splice site	probably benign
IGL01597:Tubgcp5	APN	7	55806832	splice site	probably benign
IGL01688:Tubgcp5	APN	7	55815018	missense	possibly damaging	0.92
IGL01843:Tubgcp5	APN	7	55799473	missense	probably benign	0.02
IGL01950:Tubgcp5	APN	7	55806088	missense	possibly damaging	0.93
IGL01957:Tubgcp5	APN	7	55818757	missense	probably damaging	1.00
IGL02902:Tubgcp5	APN	7	55806607	nonsense	probably null
IGL03105:Tubgcp5	APN	7	55825581	missense	probably damaging	1.00
ANU05:Tubgcp5	UTSW	7	55808529	missense	possibly damaging	0.83
R0078:Tubgcp5	UTSW	7	55818895	missense	probably damaging	1.00
R0322:Tubgcp5	UTSW	7	55814978	missense	probably damaging	0.98
R0362:Tubgcp5	UTSW	7	55800684	missense	probably damaging	1.00
R0449:Tubgcp5	UTSW	7	55823567	missense	probably benign
R0488:Tubgcp5	UTSW	7	55829338	missense	probably damaging	0.96
R0853:Tubgcp5	UTSW	7	55814851	splice site	probably benign
R0885:Tubgcp5	UTSW	7	55806055	nonsense	probably null
R1483:Tubgcp5	UTSW	7	55825707	critical splice donor site	probably null
R1746:Tubgcp5	UTSW	7	55808537	missense	probably benign	0.05
R1766:Tubgcp5	UTSW	7	55815020	missense	probably benign	0.15
R2229:Tubgcp5	UTSW	7	55830881	missense	probably damaging	1.00
R3766:Tubgcp5	UTSW	7	55830866	missense	probably damaging	0.98
R4154:Tubgcp5	UTSW	7	55805329	missense	probably benign	0.01
R4838:Tubgcp5	UTSW	7	55794185	unclassified	probably benign
R4948:Tubgcp5	UTSW	7	55806123	missense	probably benign	0.00
R5110:Tubgcp5	UTSW	7	55808637	missense	probably damaging	0.96
R5347:Tubgcp5	UTSW	7	55823685	missense	probably damaging	1.00
R5417:Tubgcp5	UTSW	7	55825661	missense	possibly damaging	0.90
R5574:Tubgcp5	UTSW	7	55805329	missense	probably benign	0.01
R5758:Tubgcp5	UTSW	7	55818895	missense	probably damaging	1.00
R5957:Tubgcp5	UTSW	7	55814962	missense	probably benign	0.03
R6014:Tubgcp5	UTSW	7	55823609	missense	probably benign
R6141:Tubgcp5	UTSW	7	55806778	missense	probably benign	0.30
R6289:Tubgcp5	UTSW	7	55795923	missense	probably benign	0.05
R6511:Tubgcp5	UTSW	7	55817392	nonsense	probably null
R6563:Tubgcp5	UTSW	7	55825661	missense	possibly damaging	0.90
R6574:Tubgcp5	UTSW	7	55823583	missense	probably benign
R6596:Tubgcp5	UTSW	7	55806634	missense	probably benign	0.38
R7016:Tubgcp5	UTSW	7	55794229	missense	possibly damaging	0.76
R7038:Tubgcp5	UTSW	7	55805366	missense	probably damaging	0.99
R7075:Tubgcp5	UTSW	7	55829407	missense	probably benign	0.04
R7083:Tubgcp5	UTSW	7	55800695	nonsense	probably null
R7213:Tubgcp5	UTSW	7	55806112	missense	probably damaging	0.97
R7284:Tubgcp5	UTSW	7	55823567	missense	probably benign
R7600:Tubgcp5	UTSW	7	55808513	missense	probably benign
R7813:Tubgcp5	UTSW	7	55800696	missense	possibly damaging	0.49
R7920:Tubgcp5	UTSW	7	55816562	missense	probably benign	0.00
R7948:Tubgcp5	UTSW	7	55794248	missense	probably benign	0.01
R8438:Tubgcp5	UTSW	7	55804615	missense	possibly damaging	0.67
R8499:Tubgcp5	UTSW	7	55804615	missense	possibly damaging	0.67
R9087:Tubgcp5	UTSW	7	55817358	missense	probably damaging	1.00
R9211:Tubgcp5	UTSW	7	55806583	missense	probably benign	0.05
R9269:Tubgcp5	UTSW	7	55795945	missense	possibly damaging	0.94
R9329:Tubgcp5	UTSW	7	55829433	critical splice donor site	probably null
R9355:Tubgcp5	UTSW	7	55817429	critical splice donor site	probably null
R9498:Tubgcp5	UTSW	7	55813485	missense	possibly damaging	0.46
R9687:Tubgcp5	UTSW	7	55825579	critical splice acceptor site	probably null
Z1088:Tubgcp5	UTSW	7	55815101	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTCCTAGTCCCGAGTGTC -3'
(R):5'- TTGACATACACTGACTTAGCCCAG -3'

Sequencing Primer
(F):5'- AGTCCCGAGTGTCTCAATATTTTC -3'
(R):5'- TCTTCTCAGCATGCAGAGGAG -3'

Posted On

2014-10-01