Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Gtpbp6'

398982

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp6

Ensembl Gene

ENSMUSG00000033434

Gene Name

GTP binding protein 6 (putative)

Synonyms

pgpl, Pgbpll

MMRRC Submission

042754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5174 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

110251841-110256063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110255983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 19 (R19C)

Ref Sequence

ENSEMBL: ENSMUSP00000076458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086686] [ENSMUST00000086687] [ENSMUST00000112528] [ENSMUST00000112534] [ENSMUST00000147631] [ENSMUST00000140538] [ENSMUST00000135409]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077220
AA Change: R19C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: R19C

Domain	Start	End	E-Value	Type
low complexity region	50	83	N/A	INTRINSIC
Pfam:GTP-bdg_N	107	198	9.1e-15	PFAM
Pfam:GTP-bdg_M	200	279	1.9e-17	PFAM
Pfam:MMR_HSR1	286	404	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086686

SMART Domains

Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART
low complexity region	147	159	N/A	INTRINSIC
ZnF_C2H2	200	222	1.36e-2	SMART
ZnF_C2H2	228	250	4.38e1	SMART
ZnF_C2H2	305	327	1.18e-2	SMART
ZnF_C2H2	333	355	5.14e-3	SMART
ZnF_C2H2	361	383	9.73e-4	SMART
ZnF_C2H2	389	411	4.99e1	SMART
ZnF_C2H2	443	465	5.4e1	SMART
ZnF_C2H2	471	493	1.3e-4	SMART
ZnF_C2H2	499	521	4.24e-4	SMART
ZnF_C2H2	527	549	1.95e-3	SMART
ZnF_C2H2	555	577	2.09e-3	SMART
ZnF_C2H2	583	605	1.2e-3	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.53e-2	SMART
ZnF_C2H2	667	689	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086687

SMART Domains

Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	48	355	1e-70	SMART
PDB:1AOD\|A	57	228	1e-12	PDB
Blast:PLCXc	70	228	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112528

SMART Domains

Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART
low complexity region	147	159	N/A	INTRINSIC
ZnF_C2H2	200	222	1.36e-2	SMART
ZnF_C2H2	228	250	4.38e1	SMART
ZnF_C2H2	305	327	1.18e-2	SMART
ZnF_C2H2	333	355	5.14e-3	SMART
ZnF_C2H2	361	383	9.73e-4	SMART
ZnF_C2H2	389	411	4.99e1	SMART
ZnF_C2H2	443	465	5.4e1	SMART
ZnF_C2H2	471	493	1.3e-4	SMART
ZnF_C2H2	499	521	4.24e-4	SMART
ZnF_C2H2	527	549	1.95e-3	SMART
ZnF_C2H2	555	577	2.09e-3	SMART
ZnF_C2H2	583	605	1.2e-3	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.53e-2	SMART
ZnF_C2H2	667	689	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112534

SMART Domains

Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	1	111	2e-21	SMART
PDB:1AOD\|A	7	95	3e-6	PDB
Blast:PLCXc	15	121	4e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131774

Predicted Effect

probably benign
Transcript: ENSMUST00000147631

SMART Domains

Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140538

Predicted Effect

probably benign
Transcript: ENSMUST00000135409

SMART Domains

Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
coiled coil region	185	218	N/A	INTRINSIC

Meta Mutation Damage Score

0.1603

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,728,209 (GRCm39)	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,366,504 (GRCm39)	R451W	probably damaging	Het
Asxl3	A	T	18: 22,656,172 (GRCm39)	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,871,041 (GRCm39)	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,742 (GRCm39)	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,759,665 (GRCm39)	F268L	probably benign	Het
Casp14	C	T	10: 78,551,225 (GRCm39)	G20D	possibly damaging	Het
Celf1	T	C	2: 90,831,353 (GRCm39)	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Cers3	A	T	7: 66,434,616 (GRCm39)	K203M	probably damaging	Het
Clip4	T	C	17: 72,117,957 (GRCm39)	F334S	probably damaging	Het
Cyp2b13	T	A	7: 25,788,118 (GRCm39)	D415E	possibly damaging	Het
Decr2	A	T	17: 26,306,443 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,352,768 (GRCm39)		probably null	Het
Dnah7b	G	A	1: 46,282,509 (GRCm39)	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,502,161 (GRCm39)	H55R	probably benign	Het
Dnajc11	T	C	4: 152,064,441 (GRCm39)	F531L	probably damaging	Het
Efcab6	A	G	15: 83,938,687 (GRCm39)	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,102,455 (GRCm39)	F476S	probably damaging	Het
Fat3	T	C	9: 15,910,866 (GRCm39)	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,893 (GRCm39)	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,811,085 (GRCm39)	P2468L	probably benign	Het
Gm5798	A	G	14: 41,070,620 (GRCm39)	H10R	possibly damaging	Het
Gm7168	A	G	17: 14,168,717 (GRCm39)	Y28C	probably damaging	Het
Gucy2e	A	G	11: 69,127,392 (GRCm39)	F27S	probably benign	Het
Inhca	C	T	9: 103,159,755 (GRCm39)		probably null	Het
Krba1	A	G	6: 48,389,229 (GRCm39)	E548G	probably damaging	Het
Ltbr	A	G	6: 125,286,500 (GRCm39)	S229P	probably benign	Het
Mgat5b	A	T	11: 116,868,541 (GRCm39)	Y488F	probably benign	Het
Mia3	T	A	1: 183,112,348 (GRCm39)	K475*	probably null	Het
Mrpl53	C	T	6: 83,086,638 (GRCm39)	T114M	possibly damaging	Het
Mrps35	T	C	6: 146,961,709 (GRCm39)	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,570,556 (GRCm39)	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,547,074 (GRCm39)	T150S	possibly damaging	Het
Nox4	T	G	7: 86,972,974 (GRCm39)	I327S	probably benign	Het
Nrk	C	G	X: 137,887,528 (GRCm39)	A1018G	probably benign	Het
Or4c102	T	A	2: 88,422,992 (GRCm39)	N281K	probably damaging	Het
Or4d5	T	C	9: 40,012,043 (GRCm39)	T248A	possibly damaging	Het
Or52ae7	T	A	7: 103,119,610 (GRCm39)	F121L	probably benign	Het
Or5w19	T	A	2: 87,698,755 (GRCm39)	V140E	possibly damaging	Het
Pdzd2	G	A	15: 12,372,600 (GRCm39)	P2512S	probably benign	Het
Ptgis	T	A	2: 167,045,390 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,619,196 (GRCm39)	M140K	probably benign	Het
Scaf4	A	T	16: 90,044,062 (GRCm39)	I637K	unknown	Het
Sdccag8	A	T	1: 176,672,916 (GRCm39)	T270S	probably damaging	Het
Sec24d	T	C	3: 123,158,575 (GRCm39)	C1022R	probably damaging	Het
Sec63	T	C	10: 42,705,077 (GRCm39)		probably benign	Het
Serpinb3d	C	G	1: 107,006,228 (GRCm39)	E287Q	possibly damaging	Het
Silc1	A	T	12: 27,192,027 (GRCm39)		noncoding transcript	Het
Smarcd2	A	G	11: 106,157,871 (GRCm39)		probably benign	Het
Sox15	A	G	11: 69,546,545 (GRCm39)	Y116C	probably damaging	Het
Spag16	T	C	1: 70,532,955 (GRCm39)	S545P	probably damaging	Het
Ssc5d	C	A	7: 4,930,970 (GRCm39)	T184N	possibly damaging	Het
St6galnac2	A	T	11: 116,572,773 (GRCm39)	F228I	probably damaging	Het
Syne1	T	C	10: 4,991,490 (GRCm39)	N8408S	probably damaging	Het
Trank1	A	C	9: 111,194,627 (GRCm39)	T884P	probably benign	Het
Ubr3	T	A	2: 69,839,506 (GRCm39)	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,399,739 (GRCm39)	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,064,739 (GRCm39)	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,048 (GRCm39)	I839L	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het
Zfp319	A	T	8: 96,054,797 (GRCm39)		probably null	Het
Zfp592	T	C	7: 80,688,073 (GRCm39)	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,061,838 (GRCm39)	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,450,828 (GRCm39)	S324P	unknown	Het
Zswim6	G	T	13: 107,863,216 (GRCm39)		noncoding transcript	Het

Other mutations in Gtpbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Gtpbp6	APN	5	110,252,245 (GRCm39)	missense	probably benign	0.08
IGL03330:Gtpbp6	APN	5	110,254,929 (GRCm39)	missense	possibly damaging	0.95
R0457:Gtpbp6	UTSW	5	110,254,608 (GRCm39)	missense	probably damaging	1.00
R1424:Gtpbp6	UTSW	5	110,252,155 (GRCm39)	splice site	probably null
R2012:Gtpbp6	UTSW	5	110,252,790 (GRCm39)	missense	probably damaging	0.98
R2048:Gtpbp6	UTSW	5	110,254,931 (GRCm39)	missense	probably damaging	1.00
R4520:Gtpbp6	UTSW	5	110,255,725 (GRCm39)	missense	probably benign	0.41
R4629:Gtpbp6	UTSW	5	110,254,774 (GRCm39)	missense	possibly damaging	0.95
R4762:Gtpbp6	UTSW	5	110,252,186 (GRCm39)	missense	probably damaging	1.00
R4878:Gtpbp6	UTSW	5	110,255,177 (GRCm39)	unclassified	probably benign
R5050:Gtpbp6	UTSW	5	110,252,567 (GRCm39)	unclassified	probably benign
R5327:Gtpbp6	UTSW	5	110,254,770 (GRCm39)	missense	probably damaging	1.00
R5450:Gtpbp6	UTSW	5	110,254,991 (GRCm39)	missense	probably damaging	0.99
R5685:Gtpbp6	UTSW	5	110,252,805 (GRCm39)	missense	probably damaging	1.00
R5773:Gtpbp6	UTSW	5	110,254,757 (GRCm39)	missense	possibly damaging	0.94
R5793:Gtpbp6	UTSW	5	110,255,094 (GRCm39)	missense	probably benign	0.01
R7205:Gtpbp6	UTSW	5	110,252,478 (GRCm39)	missense	probably damaging	1.00
R7263:Gtpbp6	UTSW	5	110,251,915 (GRCm39)	missense	probably benign	0.01
R7623:Gtpbp6	UTSW	5	110,252,950 (GRCm39)	missense	probably damaging	1.00
R7790:Gtpbp6	UTSW	5	110,252,252 (GRCm39)	missense	probably damaging	1.00
R8348:Gtpbp6	UTSW	5	110,251,892 (GRCm39)	missense	possibly damaging	0.92
R8803:Gtpbp6	UTSW	5	110,255,186 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTGTATCCAAGGGCAGGAG -3'
(R):5'- TAGAGGCATTGTCCTTTCGG -3'

Sequencing Primer
(F):5'- CCAAGGGCAGGAGGGGTG -3'
(R):5'- ATCCAAGTTTTTCGCTGCGG -3'

Posted On

2016-07-06