Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00513:Gtpbp10'

6504

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtpbp10

Ensembl Gene

ENSMUSG00000040464

Gene Name

GTP-binding protein 10 (putative)

Synonyms

4930545J22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00513

Quality Score

Status

Chromosome

Chromosomal Location

5587454-5609538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5596372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 112 (M112K)

Ref Sequence

ENSEMBL: ENSMUSP00000086225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088842] [ENSMUST00000115441] [ENSMUST00000119521] [ENSMUST00000147244]

AlphaFold

Q8K013

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088842
AA Change: M112K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
AA Change: M112K

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
Pfam:FeoB_N	75	163	3e-7	PFAM
Pfam:MMR_HSR1	77	200	2.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115441
AA Change: M191K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: M191K

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	15	142	1.3e-18	PFAM
Pfam:FeoB_N	149	241	1.4e-8	PFAM
Pfam:MMR_HSR1	150	279	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119521
AA Change: M118K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464
AA Change: M118K

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	15	118	6.7e-14	PFAM
Pfam:MMR_HSR1	95	206	2.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126855

SMART Domains

Protein: ENSMUSP00000118395
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127670

Predicted Effect

probably benign
Transcript: ENSMUST00000128887

SMART Domains

Protein: ENSMUSP00000121101
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
Pfam:GTP1_OBG	1	85	2.7e-11	PFAM
low complexity region	101	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147244

SMART Domains

Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152950

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,555,119 (GRCm39)	I157F	possibly damaging	Het
Adamts12	T	A	15: 11,257,047 (GRCm39)	S467T	probably benign	Het
Cacna1a	T	C	8: 85,279,685 (GRCm39)	I680T	probably damaging	Het
Dennd2d	A	T	3: 106,407,861 (GRCm39)	Q457L	possibly damaging	Het
Fndc1	T	C	17: 7,984,086 (GRCm39)	Y1280C	unknown	Het
Kcnh7	C	T	2: 62,595,035 (GRCm39)	M678I	probably benign	Het
Kif20b	C	A	19: 34,925,060 (GRCm39)	T739K	possibly damaging	Het
Plk2	T	A	13: 110,535,298 (GRCm39)	M444K	probably benign	Het
Scn1a	T	G	2: 66,165,875 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,748,278 (GRCm39)	I838K	probably benign	Het
Ugt2b36	T	C	5: 87,229,440 (GRCm39)	D341G	possibly damaging	Het
Vps13b	A	T	15: 35,794,030 (GRCm39)	L2235F	probably damaging	Het
Wdr7	T	A	18: 63,853,846 (GRCm39)	L60I	possibly damaging	Het

Other mutations in Gtpbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02654:Gtpbp10	APN	5	5,593,372 (GRCm39)	unclassified	probably benign
IGL03170:Gtpbp10	APN	5	5,605,355 (GRCm39)	missense	probably benign	0.03
R0421:Gtpbp10	UTSW	5	5,607,290 (GRCm39)	missense	probably benign	0.00
R4582:Gtpbp10	UTSW	5	5,592,395 (GRCm39)	missense	possibly damaging	0.95
R4832:Gtpbp10	UTSW	5	5,589,295 (GRCm39)	missense	possibly damaging	0.85
R6437:Gtpbp10	UTSW	5	5,607,406 (GRCm39)	missense	probably damaging	1.00
R6969:Gtpbp10	UTSW	5	5,605,331 (GRCm39)	missense	probably damaging	1.00
R7072:Gtpbp10	UTSW	5	5,596,365 (GRCm39)	missense	probably benign
R7349:Gtpbp10	UTSW	5	5,605,379 (GRCm39)	missense	possibly damaging	0.95
R9500:Gtpbp10	UTSW	5	5,606,120 (GRCm39)	nonsense	probably null
R9570:Gtpbp10	UTSW	5	5,596,382 (GRCm39)	missense	probably damaging	1.00
R9609:Gtpbp10	UTSW	5	5,607,396 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20