Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Guk1'

78124

Institutional Source

Beutler Lab

Gene Symbol

Guk1

Ensembl Gene

ENSMUSG00000020444

Gene Name

guanylate kinase 1

Synonyms

MMRRC Submission

039018-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R0839 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

59074701-59083069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59075921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 146 (R146C)

Ref Sequence

ENSEMBL: ENSMUSP00000130214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108790] [ENSMUST00000108793] [ENSMUST00000170202] [ENSMUST00000170895] [ENSMUST00000172714]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108790

SMART Domains

Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448

Domain	Start	End	E-Value	Type
CNX	45	78	3.37e-17	SMART
low complexity region	101	127	N/A	INTRINSIC
low complexity region	128	142	N/A	INTRINSIC
low complexity region	143	193	N/A	INTRINSIC
Connexin_CCC	222	288	9.88e-42	SMART
low complexity region	298	330	N/A	INTRINSIC
low complexity region	347	372	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108793

SMART Domains

Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448

Domain	Start	End	E-Value	Type
CNX	45	78	3.37e-17	SMART
low complexity region	101	127	N/A	INTRINSIC
low complexity region	128	142	N/A	INTRINSIC
low complexity region	143	193	N/A	INTRINSIC
Connexin_CCC	222	288	9.88e-42	SMART
low complexity region	298	330	N/A	INTRINSIC
low complexity region	347	372	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154386

Predicted Effect

probably damaging
Transcript: ENSMUST00000170202
AA Change: R158C

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

SMART Domains

Protein: ENSMUSP00000127566
Gene: ENSMUSG00000020444
AA Change: R158C

Domain	Start	End	E-Value	Type
GuKc	24	210	1.36e-94	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170895
AA Change: R146C

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

SMART Domains

Protein: ENSMUSP00000130214
Gene: ENSMUSG00000020444
AA Change: R146C

Domain	Start	End	E-Value	Type
GuKc	12	198	1.36e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172714

Meta Mutation Damage Score

0.5896

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,920,527 (GRCm39)	V1083M	probably damaging	Het
Aco2	A	G	15: 81,791,736 (GRCm39)		probably null	Het
AI661453	A	T	17: 47,747,752 (GRCm39)	Q8L	probably null	Het
Ankrd42	T	C	7: 92,261,980 (GRCm39)	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,821,442 (GRCm39)	I464L	probably benign	Het
Cdc5l	A	C	17: 45,704,073 (GRCm39)	M717R	probably benign	Het
Col4a1	G	A	8: 11,271,015 (GRCm39)	P809S	probably damaging	Het
Dctn1	T	C	6: 83,167,459 (GRCm39)	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,765,456 (GRCm39)	S799P	probably benign	Het
Dna2	T	C	10: 62,805,561 (GRCm39)	C933R	probably damaging	Het
Dock6	T	C	9: 21,729,188 (GRCm39)	N1275S	probably benign	Het
Ect2l	A	G	10: 18,017,652 (GRCm39)	I659T	probably benign	Het
Ets1	T	A	9: 32,645,357 (GRCm39)	Y201*	probably null	Het
Gle1	T	A	2: 29,848,462 (GRCm39)	C679S	probably benign	Het
Gm10118	T	G	10: 63,762,643 (GRCm39)		probably benign	Het
H2-Q7	A	G	17: 35,658,688 (GRCm39)	S109G	probably damaging	Het
Igfn1	A	G	1: 135,882,418 (GRCm39)	V2809A	probably damaging	Het
Izumo1	T	A	7: 45,276,536 (GRCm39)	D366E	probably benign	Het
Kctd20	A	T	17: 29,176,872 (GRCm39)	M1L	possibly damaging	Het
Lct	C	T	1: 128,214,346 (GRCm39)	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983 (GRCm39)	I353V	probably damaging	Het
Mybl2	T	C	2: 162,917,688 (GRCm39)	Y65H	probably benign	Het
Myh11	C	T	16: 14,021,042 (GRCm39)	E1744K	probably damaging	Het
Neb	T	C	2: 52,167,560 (GRCm39)	D1922G	probably damaging	Het
Nepro	C	A	16: 44,556,382 (GRCm39)	D513E	probably benign	Het
Nnt	A	T	13: 119,531,192 (GRCm39)	I185K	possibly damaging	Het
Npat	A	T	9: 53,456,480 (GRCm39)	Q17L	probably damaging	Het
Nup155	A	G	15: 8,175,071 (GRCm39)	E956G	possibly damaging	Het
Or1e35	T	A	11: 73,798,138 (GRCm39)	Y60F	probably damaging	Het
Or1x6	A	G	11: 50,939,254 (GRCm39)	I107V	probably benign	Het
Or2a14	T	A	6: 43,130,558 (GRCm39)	F106L	probably benign	Het
Or4q3	A	G	14: 50,583,545 (GRCm39)	V118A	probably damaging	Het
Or8g18	A	T	9: 39,149,146 (GRCm39)	N191K	possibly damaging	Het
Or8g4	A	T	9: 39,661,687 (GRCm39)	I2L	probably benign	Het
Or9e1	G	A	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Pah	T	C	10: 87,357,924 (GRCm39)	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,462,614 (GRCm39)	P1365Q	probably null	Het
Pds5b	G	T	5: 150,688,427 (GRCm39)	V640F	probably benign	Het
Pgam5	A	T	5: 110,414,996 (GRCm39)	H72Q	probably benign	Het
Plagl2	C	A	2: 153,074,461 (GRCm39)	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,256,545 (GRCm39)	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,034,722 (GRCm39)	V89A	probably damaging	Het
Ptprc	A	G	1: 138,028,870 (GRCm39)	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,315,203 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,677,980 (GRCm39)		probably null	Het
Rubcn	A	C	16: 32,647,713 (GRCm39)	I681M	probably damaging	Het
Scaf11	A	G	15: 96,321,434 (GRCm39)	L169S	probably damaging	Het
Scgb1b27	A	G	7: 33,721,276 (GRCm39)	K55E	probably benign	Het
Sos1	A	T	17: 80,741,159 (GRCm39)	I542N	probably damaging	Het
Syf2	T	A	4: 134,663,374 (GRCm39)	V182D	probably damaging	Het
Tapbp	T	C	17: 34,144,717 (GRCm39)	V271A	probably benign	Het
Tmem33	T	A	5: 67,421,651 (GRCm39)	L60Q	probably damaging	Het
Tmf1	A	G	6: 97,153,284 (GRCm39)	V263A	probably damaging	Het
Vps13c	T	C	9: 67,806,020 (GRCm39)	V798A	probably benign	Het
Zfp384	C	A	6: 125,013,631 (GRCm39)	D550E	probably benign	Het

Other mutations in Guk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0254:Guk1	UTSW	11	59,076,854 (GRCm39)	missense	probably damaging	0.96
R0838:Guk1	UTSW	11	59,075,921 (GRCm39)	missense	probably damaging	1.00
R0840:Guk1	UTSW	11	59,075,921 (GRCm39)	missense	probably damaging	1.00
R1586:Guk1	UTSW	11	59,077,675 (GRCm39)	missense	probably damaging	1.00
R1729:Guk1	UTSW	11	59,076,138 (GRCm39)	missense	probably damaging	1.00
R1784:Guk1	UTSW	11	59,076,138 (GRCm39)	missense	probably damaging	1.00
R1795:Guk1	UTSW	11	59,077,639 (GRCm39)	missense	probably benign	0.05
R7411:Guk1	UTSW	11	59,076,811 (GRCm39)	missense
R7446:Guk1	UTSW	11	59,076,850 (GRCm39)	missense	probably benign	0.31
RF018:Guk1	UTSW	11	59,077,234 (GRCm39)	missense	probably benign	0.25
Z1186:Guk1	UTSW	11	59,082,747 (GRCm39)	intron	probably benign
Z1187:Guk1	UTSW	11	59,082,747 (GRCm39)	intron	probably benign
Z1188:Guk1	UTSW	11	59,082,747 (GRCm39)	intron	probably benign
Z1191:Guk1	UTSW	11	59,082,747 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAATGTGGACCAAGCTCAGACCC -3'
(R):5'- AGTTTCTCTGAAGCTCTCGAAAGCC -3'

Sequencing Primer
(F):5'- TCAGTAAACAAGTGTGGCCTCTC -3'
(R):5'- TCCCAGCAAGGAAGCTGTTC -3'

Posted On

2013-10-16