Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Tubgcp5'

708331

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 55817429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032627 (fasta)

Gene Model

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

AlphaFold

Q8BKN5

Predicted Effect

probably null
Transcript: ENSMUST00000032627

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790

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

probably benign
Transcript: ENSMUST00000205796

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	A	T	4: 58,844,114	S551T	probably benign	Het
Ano9	A	G	7: 141,101,904	V747A	probably benign	Het
Arfgef1	G	A	1: 10,199,775	P383L	probably benign	Het
Arhgef4	A	G	1: 34,810,549	E407G	probably benign	Het
Astn1	C	T	1: 158,684,151	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,670,721	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,507,703	R983H	probably benign	Het
Bmp2k	T	A	5: 97,063,507	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474	V107F	probably damaging	Het
Car3	T	A	3: 14,863,604	N11K		Het
Ccdc170	A	G	10: 4,558,695	R640G	probably benign	Het
Cep126	A	G	9: 8,100,037	V832A	possibly damaging	Het
Ces1h	C	T	8: 93,374,521	V49I		Het
Clasp2	T	A	9: 113,835,241	V310D	probably damaging	Het
Comp	C	T	8: 70,376,049	T177M	probably benign	Het
Coro1c	T	C	5: 113,865,665	S98G	probably damaging	Het
Cpa6	C	T	1: 10,409,295	V238I	probably benign	Het
Crebrf	T	C	17: 26,743,120	F397S	probably damaging	Het
Dcpp1	C	A	17: 23,881,013	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,661,091	D533G	possibly damaging	Het
Epha5	T	C	5: 84,106,031	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806	Y476C	probably damaging	Het
Erich5	G	T	15: 34,470,855	V77F	probably damaging	Het
Fat4	A	G	3: 38,981,898	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,585,882	V521E	probably benign	Het
Gm37596	T	C	3: 93,693,000	T21A	possibly damaging	Het
Gm5431	A	G	11: 48,894,448	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,561,815	L95*	probably null	Het
Gphn	A	G	12: 78,492,194	T205A	probably damaging	Het
Grik5	C	A	7: 25,068,172	A28S	possibly damaging	Het
H2-K1	A	G	17: 33,997,146	S300P	probably benign	Het
H2-Oa	T	C	17: 34,094,749	L227P	possibly damaging	Het
Hhip	T	C	8: 80,051,604	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,438,290	M4328L	probably benign	Het
Htt	A	T	5: 34,895,903	M2527L	probably benign	Het
Impdh2	A	T	9: 108,565,203	H466L	probably benign	Het
Itgae	G	A	11: 73,116,080	G384D	probably damaging	Het
Krt90	T	C	15: 101,553,279	S496G	unknown	Het
Krtap5-5	A	G	7: 142,229,377	S179P	unknown	Het
Lif	C	T	11: 4,269,044	R63W	probably damaging	Het
Lrrc10	T	C	10: 117,045,976	V185A	probably damaging	Het
Lrrc27	A	C	7: 139,242,732	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Map2k3	T	C	11: 60,932,229	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,408,124	T33A	probably benign	Het
Mefv	T	A	16: 3,708,018	D795V	probably damaging	Het
Megf6	A	T	4: 154,253,825	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,286,937	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,237,987		probably null	Het
Myom1	T	C	17: 71,077,893	S760P	probably damaging	Het
Ndst4	A	G	3: 125,609,597	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,935,982	N193S	possibly damaging	Het
Olfr1198	A	T	2: 88,746,405	I161N	probably damaging	Het
Olfr1330	G	A	4: 118,893,587	S168N	probably benign	Het
Olfr393	A	G	11: 73,847,817	F103L	probably damaging	Het
Olfr601	T	C	7: 103,358,918	H92R	probably benign	Het
Opa1	T	A	16: 29,613,989	L490H	probably damaging	Het
Opcml	A	C	9: 28,903,354	I301L	probably benign	Het
Pabpc1l	T	C	2: 164,042,549	L402P	probably benign	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Peak1	G	T	9: 56,260,170	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,722,962	P406L	probably benign	Het
Qpctl	T	C	7: 19,141,221	H362R	probably damaging	Het
Ripor2	A	G	13: 24,701,711	H643R	probably benign	Het
Scn11a	A	T	9: 119,755,094	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,764,089	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,335,733	D370G	probably benign	Het
Sec24b	A	T	3: 129,993,840	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 126,382,228	I172T	probably damaging	Het
Smc3	T	C	19: 53,634,113		probably null	Het
Smpd3	C	T	8: 106,265,193	V243M	probably damaging	Het
Sos1	T	A	17: 80,415,050	I856F	possibly damaging	Het
Sp2	A	T	11: 96,961,405	L231H	possibly damaging	Het
Syne1	T	C	10: 5,368,255	Y457C	probably damaging	Het
Tekt5	T	C	16: 10,395,404	T6A	possibly damaging	Het
Tln2	G	T	9: 67,355,247	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,181,171	S313P	probably damaging	Het
Trmt12	G	A	15: 58,872,975	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,472	D561G	probably benign	Het
Ttn	A	G	2: 76,870,425	V62A		Het
Unc13a	C	T	8: 71,645,731	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,619,396	C905R	probably damaging	Het
Zfp735	A	G	11: 73,711,536	I435M	probably benign	Het
Zswim4	C	A	8: 84,229,058	G271W	probably damaging	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
R2148:Tubgcp5	UTSW	7	55799511	missense	probably damaging	1.00
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
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'- CGACTTTCACGAGAAGTTTGC -3'
(R):5'- ACTGTGCATGTTCTGAGCG -3'

Sequencing Primer
(F):5'- ACTTTCACGAGAAGTTTGCTGGTG -3'
(R):5'- GGCTGTTCTTGAACTCAGAAATCCAC -3'

Posted On

2022-04-18