Mutagenetix > Incidental Mutation

Incidental Mutation 'R4349:Gtpbp8'

377717

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp8

Ensembl Gene

ENSMUSG00000022668

Gene Name

GTP-binding protein 8 (putative)

Synonyms

0610037H22Rik

MMRRC Submission

041104-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R4349 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44559242-44566726 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 44566560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023348] [ENSMUST00000161436] [ENSMUST00000162512]

AlphaFold

Q9CY28

Predicted Effect

probably null
Transcript: ENSMUST00000023348

SMART Domains

Protein: ENSMUSP00000023348
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:SRPRB	42	164	4.1e-7	PFAM
Pfam:GTP_EFTU	42	214	3.4e-9	PFAM
Pfam:FeoB_N	45	208	5.9e-6	PFAM
Pfam:MMR_HSR1	46	161	5e-18	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000161436

SMART Domains

Protein: ENSMUSP00000123974
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	65	230	5.1e-9	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000162479

SMART Domains

Protein: ENSMUSP00000124621
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	104	141	1.4e-7	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000162512

SMART Domains

Protein: ENSMUSP00000125352
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:SRPRB	109	250	1.8e-7	PFAM
Pfam:MMR_HSR1	113	228	1.1e-18	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,562,827 (GRCm39)	R276L	probably benign	Het
Bahcc1	G	A	11: 120,150,027 (GRCm39)	R103Q	probably damaging	Het
Cd101	G	A	3: 100,920,630 (GRCm39)	T423M	possibly damaging	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cntn3	T	C	6: 102,176,312 (GRCm39)	E801G	probably damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Enam	T	C	5: 88,651,407 (GRCm39)	L972P	probably damaging	Het
Espl1	C	A	15: 102,228,039 (GRCm39)	T1630N	probably benign	Het
Fra10ac1	A	G	19: 38,188,053 (GRCm39)	S248P	probably benign	Het
Grik1	T	C	16: 87,754,431 (GRCm39)	R385G	probably damaging	Het
Kif23	C	T	9: 61,839,396 (GRCm39)	V284M	probably damaging	Het
Klhdc7a	A	G	4: 139,693,588 (GRCm39)	V453A	possibly damaging	Het
Klhl35	G	A	7: 99,122,926 (GRCm39)	V517M	probably benign	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Marchf7	T	C	2: 60,064,539 (GRCm39)	S272P	probably benign	Het
Milr1	T	C	11: 106,654,708 (GRCm39)	S84P	possibly damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Or12j5	A	T	7: 140,084,270 (GRCm39)	L34*	probably null	Het
Otog	A	T	7: 45,923,613 (GRCm39)	Q1082L	probably damaging	Het
Pacsin1	G	A	17: 27,925,978 (GRCm39)	V107I	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Pigv	T	C	4: 133,392,127 (GRCm39)	T348A	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Rbm25	A	G	12: 83,721,947 (GRCm39)	D711G	probably damaging	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Sec24a	G	T	11: 51,605,976 (GRCm39)	Q692K	probably benign	Het
Sidt2	C	T	9: 45,857,011 (GRCm39)	D205N	possibly damaging	Het
Skint10	T	C	4: 112,626,968 (GRCm39)	*113W	probably null	Het
Tet3	T	C	6: 83,380,257 (GRCm39)	E637G	probably benign	Het
Vmn2r94	T	A	17: 18,464,605 (GRCm39)	I562F	probably benign	Het
Zfp593	T	C	4: 133,972,367 (GRCm39)	T78A	probably benign	Het
Zfp605	T	A	5: 110,276,552 (GRCm39)	C557S	probably damaging	Het

Other mutations in Gtpbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Gtpbp8	APN	16	44,560,494 (GRCm39)	missense	probably benign	0.14
R1938:Gtpbp8	UTSW	16	44,565,785 (GRCm39)	missense	probably benign
R2152:Gtpbp8	UTSW	16	44,560,390 (GRCm39)	critical splice donor site	probably null
R3607:Gtpbp8	UTSW	16	44,564,119 (GRCm39)	missense	probably damaging	1.00
R4851:Gtpbp8	UTSW	16	44,566,433 (GRCm39)	missense	probably benign
R7250:Gtpbp8	UTSW	16	44,564,225 (GRCm39)	missense	probably damaging	1.00
R8343:Gtpbp8	UTSW	16	44,566,676 (GRCm39)	missense	probably benign
R9035:Gtpbp8	UTSW	16	44,566,511 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCGCACCTACAGTAGACC -3'
(R):5'- AATCCAGTCGCGAGGATTCTG -3'

Sequencing Primer
(F):5'- TCCGGCTGCTGCAAACTC -3'
(R):5'- TCGCGAGGATTCTGGGAGAG -3'

Posted On

2016-03-22