Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Gtpbp10'

724086

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp10

Ensembl Gene

ENSMUSG00000040464

Gene Name

GTP-binding protein 10 (putative)

Synonyms

4930545J22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9609 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5587454-5609538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5607396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 15 (F15C)

Ref Sequence

ENSEMBL: ENSMUSP00000111101 (fasta)

Gene Model

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

AlphaFold

Q8K013

Predicted Effect

probably damaging
Transcript: ENSMUST00000088842
AA Change: F15C

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

SMART Domains

Protein: ENSMUSP00000086225
Gene: ENSMUSG00000040464
AA Change: F15C

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 damaging
Transcript: ENSMUST00000115441
AA Change: F15C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111101
Gene: ENSMUSG00000040464
AA Change: F15C

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

SMART Domains

Protein: ENSMUSP00000113648
Gene: ENSMUSG00000040464
AA Change: F15C

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

SMART Domains

Protein: ENSMUSP00000118395
Gene: ENSMUSG00000040464
AA Change: F13C

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 damaging
Transcript: ENSMUST00000147244
AA Change: F15C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119250
Gene: ENSMUSG00000040464
AA Change: F15C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198799

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,208,549 (GRCm39)	S241P	probably damaging	Het
Adam23	A	T	1: 63,576,102 (GRCm39)	M295L	probably benign	Het
Ano8	T	A	8: 71,933,726 (GRCm39)	D522V	unknown	Het
Asgr2	T	C	11: 69,988,667 (GRCm39)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,573,580 (GRCm39)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,847,958 (GRCm39)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,884,513 (GRCm39)	E145G		Het
Cad	T	C	5: 31,228,018 (GRCm39)		probably null	Het
Dhrs7b	A	G	11: 60,735,121 (GRCm39)	R51G	possibly damaging	Het
Dnah3	A	T	7: 119,670,236 (GRCm39)	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,616,644 (GRCm39)	G216S	probably null	Het
Dync1h1	T	C	12: 110,607,362 (GRCm39)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,167,515 (GRCm39)	T81A	probably benign	Het
Fga	A	T	3: 82,940,064 (GRCm39)	I573F	probably damaging	Het
Fgd6	T	A	10: 93,879,674 (GRCm39)	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653 (GRCm39)	C41*	probably null	Het
Fibcd1	A	G	2: 31,728,653 (GRCm39)	V68A	probably benign	Het
Fign	T	C	2: 63,810,286 (GRCm39)	D328G	probably benign	Het
Hmcn1	A	T	1: 150,555,346 (GRCm39)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,060,221 (GRCm39)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,226,869 (GRCm39)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,474,677 (GRCm39)	I473T	probably benign	Het
Lcn3	A	G	2: 25,657,596 (GRCm39)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,401,298 (GRCm39)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mlip	T	A	9: 77,045,797 (GRCm39)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,577,234 (GRCm39)	T175S		Het
Nkpd1	A	C	7: 19,257,462 (GRCm39)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,540,203 (GRCm39)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,843,599 (GRCm39)	T99A	probably benign	Het
Patj	T	G	4: 98,576,473 (GRCm39)	F570L	probably benign	Het
Piwil4	T	C	9: 14,614,443 (GRCm39)	T107A		Het
Ppp1r12b	G	A	1: 134,824,084 (GRCm39)	Q180*	probably null	Het
Prpf4b	A	G	13: 35,068,032 (GRCm39)	D287G	unknown	Het
Rab17	T	C	1: 90,891,907 (GRCm39)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,179,565 (GRCm39)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,402,222 (GRCm39)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,616,518 (GRCm39)	L257P	probably benign	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,834,407 (GRCm39)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm39)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,530,035 (GRCm39)	T248S	possibly damaging	Het
Spen	A	G	4: 141,215,419 (GRCm39)	I471T	unknown	Het
Tbpl2	C	T	2: 23,977,197 (GRCm39)	D274N	probably damaging	Het
Timm23	A	G	14: 31,902,543 (GRCm39)	M200T	probably benign	Het
Tlr3	T	C	8: 45,850,117 (GRCm39)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,113,208 (GRCm39)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,667,618 (GRCm39)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,855,964 (GRCm39)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,758,148 (GRCm39)	T829A	probably damaging	Het
Ugt3a1	A	C	15: 9,361,905 (GRCm39)	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,320,839 (GRCm39)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,743,732 (GRCm39)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,841,831 (GRCm39)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,900,258 (GRCm39)	D38G	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,150,751 (GRCm39)	V23D	unknown	Het
Zkscan8	C	A	13: 21,709,434 (GRCm39)	V155F	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCCCATAGGCACTTACCGACTG -3'
(R):5'- GGCTGGGTGGAACAATTGATC -3'

Sequencing Primer
(F):5'- ATAGGCACTTACCGACTGTTTGC -3'
(R):5'- GGTGGAACAATTGATCGTTGAG -3'

Posted On

2022-09-12