Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Shpk'

558631

Institutional Source

Beutler Lab

Gene Symbol

Shpk

Ensembl Gene

ENSMUSG00000005951

Gene Name

sedoheptulokinase

Synonyms

4930431K22Rik, Carkl

MMRRC Submission

045267-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73090286-73115337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73113814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 409 (H409R)

Ref Sequence

ENSEMBL: ENSMUSP00000006105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006105] [ENSMUST00000131927]

AlphaFold

Q9D5J6

Predicted Effect

probably benign
Transcript: ENSMUST00000006105
AA Change: H409R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: H409R

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	6	264	3.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131927

SMART Domains

Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	6	109	3.7e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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 has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Adnp	T	C	2: 168,024,578 (GRCm39)	N906D	probably benign	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Cisd3	A	T	11: 97,576,959 (GRCm39)	D11V	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Foxn1	T	C	11: 78,251,693 (GRCm39)	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Gtf2h3	A	G	5: 124,728,433 (GRCm39)	R161G	probably damaging	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Slamf6	A	C	1: 171,761,858 (GRCm39)	N93T	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Tbl3	G	A	17: 24,919,732 (GRCm39)	T774I	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		probably null	Het

Other mutations in Shpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Shpk	APN	11	73,094,821 (GRCm39)	missense	probably damaging	1.00
IGL03411:Shpk	APN	11	73,105,861 (GRCm39)	missense	probably benign	0.25
R0125:Shpk	UTSW	11	73,105,048 (GRCm39)	splice site	probably benign
R0826:Shpk	UTSW	11	73,094,857 (GRCm39)	missense	probably damaging	1.00
R1055:Shpk	UTSW	11	73,105,945 (GRCm39)	missense	probably benign
R1670:Shpk	UTSW	11	73,113,757 (GRCm39)	missense	probably benign	0.00
R2077:Shpk	UTSW	11	73,094,785 (GRCm39)	missense	probably damaging	1.00
R2263:Shpk	UTSW	11	73,097,319 (GRCm39)	critical splice donor site	probably benign
R5281:Shpk	UTSW	11	73,105,946 (GRCm39)	missense	probably benign	0.06
R5443:Shpk	UTSW	11	73,113,607 (GRCm39)	missense	possibly damaging	0.94
R5461:Shpk	UTSW	11	73,090,361 (GRCm39)	missense	probably benign	0.08
R6063:Shpk	UTSW	11	73,104,270 (GRCm39)	nonsense	probably null
R6424:Shpk	UTSW	11	73,104,318 (GRCm39)	missense	possibly damaging	0.50
R7150:Shpk	UTSW	11	73,104,315 (GRCm39)	missense	probably damaging	0.99
R7255:Shpk	UTSW	11	73,090,486 (GRCm39)	missense	probably benign	0.00
R8196:Shpk	UTSW	11	73,094,775 (GRCm39)	missense	probably benign	0.03
R8203:Shpk	UTSW	11	73,104,904 (GRCm39)	missense	probably benign	0.01
R9220:Shpk	UTSW	11	73,113,996 (GRCm39)	makesense	probably null
R9589:Shpk	UTSW	11	73,104,267 (GRCm39)	missense	possibly damaging	0.90
R9632:Shpk	UTSW	11	73,104,238 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATTCACGCATGATCCAGGC -3'
(R):5'- GAGCTTGATGAACTAAGGCTCC -3'

Sequencing Primer
(F):5'- ATGATCCAGGCGGCTGC -3'
(R):5'- AACTAAGGCTCCTTCTGGCTAAGG -3'

Posted On

2019-06-26