Mutagenetix > Incidental Mutation

Incidental Mutation 'R2077:Shpk'

229228

Institutional Source

Beutler Lab

Gene Symbol

Shpk

Ensembl Gene

ENSMUSG00000005951

Gene Name

sedoheptulokinase

Synonyms

4930431K22Rik, Carkl

MMRRC Submission

040082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73090286-73115337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73094785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 67 (L67P)

Ref Sequence

ENSEMBL: ENSMUSP00000123639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006103] [ENSMUST00000006105] [ENSMUST00000108476] [ENSMUST00000131927]

AlphaFold

Q9D5J6

Predicted Effect

probably benign
Transcript: ENSMUST00000006103

SMART Domains

Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CTNS	140	171	6.43e-12	SMART
transmembrane domain	206	225	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
CTNS	279	310	1.47e-6	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000006105
AA Change: L67P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: L67P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108476

SMART Domains

Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CTNS	140	171	6.43e-12	SMART
transmembrane domain	206	225	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
CTNS	279	310	1.47e-6	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131927
AA Change: L67P

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

SMART Domains

Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951
AA Change: L67P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150468

Meta Mutation Damage Score

0.8599

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,183,604 (GRCm39)		probably benign	Het
Abhd16b	A	C	2: 181,135,209 (GRCm39)	D37A	probably benign	Het
Acp7	T	C	7: 28,328,907 (GRCm39)	E91G	probably damaging	Het
Alms1	T	A	6: 85,599,291 (GRCm39)	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,436,990 (GRCm39)	D620V	probably damaging	Het
Caps2	C	T	10: 112,035,632 (GRCm39)	T371I	possibly damaging	Het
Ccdc175	A	G	12: 72,186,794 (GRCm39)	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,265,630 (GRCm39)	L1434P	probably damaging	Het
Cdkl3	A	T	11: 51,917,666 (GRCm39)	E321V	probably damaging	Het
Clec2d	G	T	6: 129,160,153 (GRCm39)	V56L	possibly damaging	Het
Cops3	A	T	11: 59,715,136 (GRCm39)	S301T	possibly damaging	Het
Crygd	T	C	1: 65,102,405 (GRCm39)	D19G	probably damaging	Het
Dnah2	T	C	11: 69,387,432 (GRCm39)	I931M	possibly damaging	Het
Dst	A	T	1: 34,250,251 (GRCm39)	R4068S	probably damaging	Het
Fas	C	T	19: 34,297,953 (GRCm39)		probably benign	Het
G6pd2	T	A	5: 61,967,594 (GRCm39)	D456E	probably damaging	Het
Galnt18	G	A	7: 111,153,809 (GRCm39)	R272W	probably damaging	Het
Grb2	C	A	11: 115,536,651 (GRCm39)	G200W	probably damaging	Het
Herc4	A	G	10: 63,099,832 (GRCm39)	N85S	probably benign	Het
Ighv7-2	T	C	12: 113,875,727 (GRCm39)	D92G	probably damaging	Het
Itih3	A	G	14: 30,631,792 (GRCm39)	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,600,560 (GRCm39)	N247D	probably benign	Het
Kcnd3	T	C	3: 105,574,315 (GRCm39)	V500A	probably benign	Het
Lrp2	C	T	2: 69,338,187 (GRCm39)	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,999,444 (GRCm39)	T22A	probably damaging	Het
Mdga2	A	G	12: 66,702,136 (GRCm39)	V355A	probably damaging	Het
Megf8	T	A	7: 25,053,163 (GRCm39)	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,974,448 (GRCm39)	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389 (GRCm39)	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,781,856 (GRCm39)	C534R	probably benign	Het
Nup155	A	G	15: 8,172,510 (GRCm39)	E832G	probably damaging	Het
Or5w11	A	G	2: 87,459,173 (GRCm39)	Y122C	probably damaging	Het
Plcl2	A	G	17: 50,913,857 (GRCm39)	T289A	probably benign	Het
Ptprs	C	T	17: 56,741,990 (GRCm39)	R7Q	probably null	Het
Rab3ip	A	T	10: 116,754,865 (GRCm39)	D198E	possibly damaging	Het
Scaf4	A	T	16: 90,049,323 (GRCm39)	F255I	unknown	Het
Senp6	T	C	9: 80,033,437 (GRCm39)	S475P	probably benign	Het
Sik3	T	A	9: 46,130,801 (GRCm39)	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,265,020 (GRCm39)	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,848,685 (GRCm39)	V23A	probably benign	Het
Slit3	A	T	11: 35,435,575 (GRCm39)	I169F	possibly damaging	Het
Stxbp5l	A	G	16: 37,056,637 (GRCm39)	V379A	possibly damaging	Het
Tex2	T	C	11: 106,397,690 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,586,143 (GRCm39)	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,489,815 (GRCm39)	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,792,358 (GRCm39)	C562S	probably damaging	Het
Wipi1	T	C	11: 109,468,490 (GRCm39)	N368S	probably benign	Het
Zbtb41	T	C	1: 139,351,831 (GRCm39)	S315P	probably damaging	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
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
R7176:Shpk	UTSW	11	73,113,814 (GRCm39)	missense	probably benign	0.05
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'- AACTGTCCAATGCTGTGCTTC -3'
(R):5'- CAAAAGCCCTTTGAAGCCCTG -3'

Sequencing Primer
(F):5'- TTGGGCAAGTCTCAGGCCAG -3'
(R):5'- GTTCTTGTCAAGTGACCACAGCATG -3'

Posted On

2014-09-17