Incidental Mutation 'IGL01753:Ispd'
ID153161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ispd
Ensembl Gene ENSMUSG00000043153
Gene Nameisoprenoid synthase domain containing
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01753
Quality Score
Status
Chromosome12
Chromosomal Location36381450-36689503 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36473177 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 202 (L202F)
Ref Sequence ENSEMBL: ENSMUSP00000152872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062041] [ENSMUST00000220519] [ENSMUST00000221177] [ENSMUST00000221452] [ENSMUST00000221895] [ENSMUST00000223068] [ENSMUST00000223205]
Predicted Effect probably damaging
Transcript: ENSMUST00000062041
AA Change: L252F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061646
Gene: ENSMUSG00000043153
AA Change: L252F

DomainStartEndE-ValueType
Pfam:IspD 45 277 2.5e-40 PFAM
Pfam:NTP_transf_3 47 274 3.1e-11 PFAM
low complexity region 359 370 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220519
AA Change: L252F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000221177
AA Change: L153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000221452
AA Change: L252F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000221895
AA Change: L252F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223068
AA Change: L153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223205
AA Change: L202F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,802,224 F163L probably benign Het
Ap2b1 A G 11: 83,321,973 T60A probably damaging Het
Casp3 A G 8: 46,629,741 probably benign Het
Ces1d T C 8: 93,192,810 Y118C probably damaging Het
Chuk T C 19: 44,098,576 probably benign Het
Clec4b2 A T 6: 123,202,210 Y157F possibly damaging Het
Dlg4 T A 11: 70,041,347 F480I probably damaging Het
Dock8 T A 19: 25,061,292 probably benign Het
Dsg1b T C 18: 20,397,849 probably benign Het
Dstyk T C 1: 132,462,939 Y830H probably damaging Het
Gm9268 T A 7: 43,024,715 V399E probably damaging Het
Hook2 T C 8: 84,993,236 probably null Het
Ighv2-9-1 T C 12: 113,769,928 D91G probably damaging Het
Igkv12-41 T C 6: 69,858,526 R81G probably damaging Het
Jmjd1c T A 10: 67,232,015 S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 V1670I probably benign Het
Naa15 T C 3: 51,442,853 F124L probably damaging Het
Nek2 C T 1: 191,825,486 Q187* probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pif1 G A 9: 65,593,308 G505D probably damaging Het
Plxna4 T A 6: 32,310,478 I495F probably benign Het
Ppp1r21 T C 17: 88,562,102 probably benign Het
Prex1 T C 2: 166,602,882 I282V probably benign Het
Pzp A T 6: 128,502,183 I669N possibly damaging Het
Sipa1l2 T A 8: 125,453,292 probably benign Het
Top2a T A 11: 99,007,274 T689S probably damaging Het
Trerf1 T A 17: 47,315,436 noncoding transcript Het
Uso1 T C 5: 92,152,918 probably null Het
Zcchc7 A G 4: 44,929,217 I390V probably benign Het
Zfp90 C T 8: 106,424,150 T165I probably benign Het
Other mutations in Ispd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Ispd APN 12 36547919 missense probably benign 0.10
R0329:Ispd UTSW 12 36381838 missense possibly damaging 0.71
R0513:Ispd UTSW 12 36390468 missense probably damaging 1.00
R0798:Ispd UTSW 12 36521999 missense probably benign 0.26
R1676:Ispd UTSW 12 36476721 missense probably benign 0.02
R1704:Ispd UTSW 12 36521494 missense probably benign 0.00
R1937:Ispd UTSW 12 36390368 missense probably benign 0.13
R1987:Ispd UTSW 12 36521996 missense probably damaging 1.00
R4518:Ispd UTSW 12 36473180 missense possibly damaging 0.81
R5726:Ispd UTSW 12 36547830 missense probably damaging 0.99
R6508:Ispd UTSW 12 36426299 missense possibly damaging 0.92
R7315:Ispd UTSW 12 36390374 missense probably benign 0.00
R7395:Ispd UTSW 12 36501995 missense possibly damaging 0.86
R7819:Ispd UTSW 12 36381903 missense probably benign 0.00
R8392:Ispd UTSW 12 36390498 missense probably damaging 1.00
R8810:Ispd UTSW 12 36390482 missense probably damaging 1.00
Posted On2014-02-04