Mutagenetix > Incidental Mutation

Incidental Mutation 'R5327:Gtpbp6'

422031

Institutional Source

Beutler Lab

Gene Symbol

Gtpbp6

Ensembl Gene

ENSMUSG00000033434

Gene Name

GTP binding protein 6 (putative)

Synonyms

pgpl, Pgbpll

MMRRC Submission

042910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110251841-110256063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110254770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 101 (F101S)

Ref Sequence

ENSEMBL: ENSMUSP00000117817 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000077220
AA Change: F164S

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

SMART Domains

Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: F164S

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: 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: ENSMUST00000131774

Predicted Effect

probably damaging
Transcript: ENSMUST00000135409
AA Change: F101S

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

SMART Domains

Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: F101S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149227

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

Meta Mutation Damage Score

0.3558

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (101/101)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,668,740 (GRCm39)	S36G	probably damaging	Het
Aarsd1	T	C	11: 101,301,203 (GRCm39)	N280D	probably benign	Het
Abca2	T	A	2: 25,335,686 (GRCm39)	M2099K	probably damaging	Het
Abcb5	T	A	12: 118,875,278 (GRCm39)	E631D	probably benign	Het
Acss2	T	A	2: 155,415,149 (GRCm39)	L682Q	probably null	Het
Adamts14	G	A	10: 61,034,267 (GRCm39)	P1207L	probably benign	Het
Adora1	G	A	1: 134,130,748 (GRCm39)	R308*	probably null	Het
Arcn1	A	T	9: 44,668,444 (GRCm39)	V264E	probably benign	Het
B3galt1	G	A	2: 67,949,112 (GRCm39)	G276S	probably damaging	Het
Bms1	A	T	6: 118,382,179 (GRCm39)	M453K	possibly damaging	Het
Bnip3l	T	C	14: 67,225,180 (GRCm39)	Y218C	probably damaging	Het
Cacna2d2	A	G	9: 107,390,805 (GRCm39)	E379G	probably null	Het
Cacng6	G	A	7: 3,483,376 (GRCm39)	G235R	probably damaging	Het
Capn8	A	T	1: 182,456,169 (GRCm39)	T640S	probably benign	Het
Ccdc106	T	C	7: 5,063,159 (GRCm39)		probably benign	Het
Ccdc33	A	T	9: 57,993,860 (GRCm39)	N95K	probably benign	Het
Celsr3	T	A	9: 108,719,907 (GRCm39)		probably benign	Het
Cemip	A	T	7: 83,604,509 (GRCm39)	N844K	probably damaging	Het
Chrdl2	A	T	7: 99,677,948 (GRCm39)	T284S	probably damaging	Het
Ckm	A	G	7: 19,154,090 (GRCm39)	Y279C	probably damaging	Het
Clvs1	A	T	4: 9,424,261 (GRCm39)	I236F	probably damaging	Het
Col9a1	T	C	1: 24,234,620 (GRCm39)		probably null	Het
Csmd1	T	C	8: 17,266,728 (GRCm39)	E66G	possibly damaging	Het
Ctdsp2	A	G	10: 126,831,923 (GRCm39)	D26G	probably damaging	Het
Ctsll3	C	A	13: 60,946,721 (GRCm39)		probably null	Het
Cyp2d12	A	T	15: 82,439,423 (GRCm39)	M26L	probably benign	Het
Cyp8b1	C	T	9: 121,743,950 (GRCm39)	D461N	probably damaging	Het
Dbt	A	T	3: 116,322,220 (GRCm39)		probably benign	Het
Dnah7c	A	G	1: 46,704,728 (GRCm39)	D2247G	probably benign	Het
Dsg1c	A	G	18: 20,400,994 (GRCm39)	I166V	possibly damaging	Het
Duoxa1	T	A	2: 122,134,361 (GRCm39)	E252D	probably damaging	Het
Ezr	T	A	17: 7,020,448 (GRCm39)	K211M	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fahd2a	T	C	2: 127,283,878 (GRCm39)	D54G	possibly damaging	Het
Fbxo9	A	T	9: 78,003,146 (GRCm39)		probably null	Het
Fndc1	A	G	17: 7,991,540 (GRCm39)	S719P	unknown	Het
Gas7	G	T	11: 67,552,916 (GRCm39)	G159C	probably damaging	Het
Gba2	T	C	4: 43,574,063 (GRCm39)	D130G	probably damaging	Het
Gli3	T	G	13: 15,723,092 (GRCm39)	S78A	probably damaging	Het
Gzme	G	A	14: 56,355,224 (GRCm39)	H236Y	probably benign	Het
Hira	T	C	16: 18,773,508 (GRCm39)	Y943H	probably damaging	Het
Hmbox1	G	A	14: 65,134,144 (GRCm39)	S152L	possibly damaging	Het
Ibtk	A	G	9: 85,619,519 (GRCm39)		probably null	Het
Jade1	T	C	3: 41,568,413 (GRCm39)	I827T	possibly damaging	Het
Jakmip3	A	T	7: 138,627,164 (GRCm39)	E389D	possibly damaging	Het
Klhdc8b	A	T	9: 108,326,241 (GRCm39)		probably benign	Het
Lama2	T	C	10: 27,014,942 (GRCm39)	T1589A	probably benign	Het
Lbx2	A	C	6: 83,064,784 (GRCm39)	K107T	probably damaging	Het
Ldha	A	G	7: 46,503,522 (GRCm39)	M259V	probably benign	Het
Lrrtm4	A	G	6: 79,999,620 (GRCm39)	K344R	probably damaging	Het
Ltb	A	T	17: 35,414,935 (GRCm39)	E245V	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Map3k13	T	A	16: 21,740,397 (GRCm39)	S575T	possibly damaging	Het
Mcpt2	A	T	14: 56,280,833 (GRCm39)	I74F	probably damaging	Het
Mpeg1	T	A	19: 12,439,013 (GRCm39)	V157D	probably damaging	Het
Mrpl21	A	T	19: 3,337,009 (GRCm39)		probably null	Het
Nagpa	T	C	16: 5,017,877 (GRCm39)	T99A	possibly damaging	Het
Nphs1	A	T	7: 30,163,250 (GRCm39)	I469F	probably benign	Het
Nyap2	A	G	1: 81,169,756 (GRCm39)	E171G	possibly damaging	Het
Oas1e	A	G	5: 120,930,006 (GRCm39)	Y171H	probably damaging	Het
Or10ag59	T	A	2: 87,406,043 (GRCm39)	V205D	probably damaging	Het
Or2y1f	T	C	11: 49,184,493 (GRCm39)	L115P	probably damaging	Het
Or5ac23	T	C	16: 59,149,461 (GRCm39)	K137R	probably benign	Het
Or5h26	T	C	16: 58,987,983 (GRCm39)	I174M	possibly damaging	Het
Otud7b	C	A	3: 96,063,055 (GRCm39)	Q765K	probably benign	Het
Pdzd7	A	G	19: 45,017,216 (GRCm39)	V851A	probably benign	Het
Pi4ka	T	G	16: 17,143,277 (GRCm39)	K794T	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,258 (GRCm39)	N2588K	probably damaging	Het
Pla2g6	A	T	15: 79,186,837 (GRCm39)	M471K	probably benign	Het
Plagl2	T	C	2: 153,077,759 (GRCm39)	H74R	possibly damaging	Het
Prf1	T	A	10: 61,136,037 (GRCm39)	N104K	probably benign	Het
Ptprf	A	T	4: 118,093,586 (GRCm39)	I358N	probably damaging	Het
Rcsd1	A	G	1: 165,482,872 (GRCm39)		probably null	Het
Rev1	G	A	1: 38,147,532 (GRCm39)	R3*	probably null	Het
Rp1	T	C	1: 4,419,583 (GRCm39)		probably null	Het
Rrp12	G	A	19: 41,881,035 (GRCm39)	T132I	probably damaging	Het
Sema3a	T	C	5: 13,649,357 (GRCm39)	V702A	probably benign	Het
Serpinb12	A	G	1: 106,884,174 (GRCm39)	N307D	probably damaging	Het
Slc35d1	A	G	4: 103,070,383 (GRCm39)	L103P	probably damaging	Het
Smyd4	T	C	11: 75,281,765 (GRCm39)	C413R	probably damaging	Het
Stab1	G	A	14: 30,883,793 (GRCm39)	Q255*	probably null	Het
Synpo	T	A	18: 60,736,918 (GRCm39)	I343F	possibly damaging	Het
Tcirg1	A	G	19: 3,952,342 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,816 (GRCm39)	T996A	possibly damaging	Het
Trim10	A	G	17: 37,181,081 (GRCm39)	E104G	probably damaging	Het
Trpc1	T	C	9: 95,603,524 (GRCm39)		probably null	Het
Tspo2	A	T	17: 48,756,887 (GRCm39)		probably benign	Het
Ugt2a3	A	T	5: 87,479,174 (GRCm39)	I258N	probably damaging	Het
Usp34	T	C	11: 23,418,846 (GRCm39)	L2998P	probably damaging	Het
Vmn1r45	A	C	6: 89,910,123 (GRCm39)	D162E	possibly damaging	Het
Vmn2r117	A	T	17: 23,696,848 (GRCm39)	Y186*	probably null	Het
Vmn2r67	A	G	7: 84,785,698 (GRCm39)	F769S	probably damaging	Het
Zbtb17	A	G	4: 141,192,942 (GRCm39)	I514V	probably benign	Het
Zfp329	A	C	7: 12,545,421 (GRCm39)	D34E	probably benign	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
R5174:Gtpbp6	UTSW	5	110,255,983 (GRCm39)	missense	possibly damaging	0.91
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'- TGAATCTGTCGAACACACGC -3'
(R):5'- ATGGACCCTTGTGTCCTCAC -3'

Sequencing Primer
(F):5'- TCTGTCGAACACACGCAAACC -3'
(R):5'- TTCGGCAAGGGCAACTTTCAG -3'

Posted On

2016-08-04