Mutagenetix > Incidental Mutation

Incidental Mutation 'R0421:Gtpbp10'

37048

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp10

Ensembl Gene

ENSMUSG00000040464

Gene Name

GTP-binding protein 10 (putative)

Synonyms

4930545J22Rik

MMRRC Submission

038623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0421 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

5587454-5609538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5607290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 50 (H50Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088842] [ENSMUST00000115441] [ENSMUST00000119521] [ENSMUST00000147244] [ENSMUST00000198799]

AlphaFold

Q8K013

Predicted Effect

probably benign
Transcript: ENSMUST00000088842
AA Change: H50Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
AA Change: H50Q

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: H50Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: H50Q

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

unknown
Transcript: ENSMUST00000119521
AA Change: H50Q

SMART Domains

Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464
AA Change: H50Q

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

unknown
Transcript: ENSMUST00000126855
AA Change: H48Q

SMART Domains

Protein: ENSMUSP00000118395
Gene: ENSMUSG00000040464
AA Change: H48Q

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

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
AA Change: H50Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464
AA Change: H50Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152984

Predicted Effect

probably benign
Transcript: ENSMUST00000198799

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

97% (67/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	G	A	2: 22,850,839 (GRCm39)	T195I	probably damaging	Het
Afap1l1	T	C	18: 61,884,945 (GRCm39)	N180S	probably damaging	Het
Arsg	A	G	11: 109,418,592 (GRCm39)	Y196C	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atp2b2	C	A	6: 113,790,849 (GRCm39)	R185L	probably damaging	Het
Ccr9	A	T	9: 123,608,671 (GRCm39)	M118L	probably benign	Het
Cdh12	A	T	15: 21,480,310 (GRCm39)		probably null	Het
Cdk13	T	C	13: 17,937,755 (GRCm39)	S763G	probably damaging	Het
Cenpk	C	A	13: 104,378,911 (GRCm39)	N177K	probably benign	Het
Cfap43	T	G	19: 47,824,014 (GRCm39)	N119T	probably benign	Het
Chrna6	T	C	8: 27,898,415 (GRCm39)	E101G	probably null	Het
Clasp2	G	A	9: 113,683,370 (GRCm39)	R400H	probably benign	Het
Col6a6	T	C	9: 105,661,405 (GRCm39)	M235V	probably benign	Het
Ddx49	A	T	8: 70,748,282 (GRCm39)	L291Q	probably damaging	Het
Dhrs7	A	T	12: 72,699,860 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,229,687 (GRCm39)	K107M	possibly damaging	Het
Dsg2	C	T	18: 20,712,448 (GRCm39)	R151C	probably damaging	Het
Dsn1	T	C	2: 156,847,789 (GRCm39)	T2A	possibly damaging	Het
Edem3	A	G	1: 151,668,189 (GRCm39)		probably benign	Het
Eif3c	T	C	7: 126,162,884 (GRCm39)	N133S	possibly damaging	Het
F10	A	G	8: 13,095,097 (GRCm39)	K85E	probably benign	Het
Fbn2	T	A	18: 58,160,876 (GRCm39)		probably benign	Het
Hephl1	A	G	9: 14,970,456 (GRCm39)	F1013L	probably benign	Het
Hps3	C	A	3: 20,083,480 (GRCm39)	V238F	probably benign	Het
Kcna10	A	C	3: 107,101,820 (GRCm39)	K150N	probably damaging	Het
Kirrel1	C	T	3: 86,990,914 (GRCm39)	G636D	probably damaging	Het
Kndc1	G	A	7: 139,488,912 (GRCm39)	R189H	probably damaging	Het
Knop1	C	T	7: 118,454,852 (GRCm39)	E50K	possibly damaging	Het
Kplce	T	C	3: 92,776,291 (GRCm39)	T131A	probably damaging	Het
Kpna7	T	A	5: 144,926,551 (GRCm39)	H467L	possibly damaging	Het
Lcn4	T	C	2: 26,558,661 (GRCm39)	N142D	possibly damaging	Het
Map3k3	T	C	11: 106,039,741 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,684,707 (GRCm39)	T806A	probably benign	Het
Nbeal1	T	A	1: 60,307,598 (GRCm39)	N1703K	probably benign	Het
Neurl4	T	C	11: 69,799,360 (GRCm39)	V914A	probably damaging	Het
Niban1	T	A	1: 151,584,833 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,118,692 (GRCm39)	S275P	possibly damaging	Het
Or1j20	A	G	2: 36,759,653 (GRCm39)	E25G	possibly damaging	Het
Or52ac1	A	G	7: 104,245,929 (GRCm39)	V153A	probably benign	Het
Or7e174	A	G	9: 20,012,771 (GRCm39)	K239E	probably damaging	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Pappa2	A	T	1: 158,675,650 (GRCm39)	I1032N	probably damaging	Het
Pcdh7	A	G	5: 57,877,402 (GRCm39)	E319G	probably damaging	Het
Pcdhb11	T	A	18: 37,555,533 (GRCm39)	S288T	probably benign	Het
Phip	A	T	9: 82,808,510 (GRCm39)	D488E	probably damaging	Het
Pla2g7	A	T	17: 43,922,303 (GRCm39)	H394L	probably damaging	Het
Plk3	A	G	4: 116,990,641 (GRCm39)	V69A	probably damaging	Het
Prob1	C	A	18: 35,786,083 (GRCm39)	A724S	possibly damaging	Het
Prune2	T	C	19: 17,100,675 (GRCm39)	F2060L	probably benign	Het
Rgl3	G	A	9: 21,887,328 (GRCm39)	R498C	probably benign	Het
Rnf213	A	C	11: 119,338,083 (GRCm39)	N3362H	probably damaging	Het
Sbds	A	G	5: 130,282,774 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,373,621 (GRCm39)	S453G	probably benign	Het
Sh3rf3	T	C	10: 58,819,897 (GRCm39)	L236P	probably damaging	Het
Skint1	A	G	4: 111,876,211 (GRCm39)	N44S	possibly damaging	Het
Slc5a1	T	A	5: 33,291,996 (GRCm39)	I141N	probably damaging	Het
Tlcd3b	G	A	7: 126,424,187 (GRCm39)	V44M	probably damaging	Het
Trank1	T	A	9: 111,220,907 (GRCm39)	I2548N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,749 (GRCm39)		probably benign	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vmn2r11	T	G	5: 109,207,294 (GRCm39)	I9L	probably benign	Het
Vmn2r58	T	G	7: 41,514,628 (GRCm39)	N114H	probably benign	Het
Vps53	A	G	11: 75,973,496 (GRCm39)	L166P	probably damaging	Het
Zfp119a	T	A	17: 56,172,248 (GRCm39)	K532*	probably null	Het
Zfp472	A	G	17: 33,194,897 (GRCm39)	T11A	possibly damaging	Het
Zfp512b	T	A	2: 181,230,051 (GRCm39)	K87*	probably null	Het
Zfp518b	G	A	5: 38,831,918 (GRCm39)	P29L	probably damaging	Het
Zfp599	A	G	9: 22,161,843 (GRCm39)		probably benign	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Gtpbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Gtpbp10	APN	5	5,596,372 (GRCm39)	missense	possibly damaging	0.71
IGL02654:Gtpbp10	APN	5	5,593,372 (GRCm39)	unclassified	probably benign
IGL03170:Gtpbp10	APN	5	5,605,355 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- TGCCCAAGGTAAGTTTGGAACAAAGTA -3'
(R):5'- CCTGAACGAAGCCTCAGTAGAATGAAA -3'

Sequencing Primer
(F):5'- CCGCCAAAATAGTCATTCATGTTAG -3'
(R):5'- GCCTCAGTAGAATGAAATTAGAACC -3'

Posted On

2013-05-09