Incidental Mutation 'IGL00972:Kel'
ID27700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kel
Ensembl Gene ENSMUSG00000029866
Gene NameKell blood group
SynonymsCD238
Accession Numbers

Genbank: NM_032540; MGI: 1346053

Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL00972
Quality Score
Status
Chromosome6
Chromosomal Location41686330-41704339 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 41688066 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 588 (A588V)
Ref Sequence ENSEMBL: ENSMUSP00000031899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899] [ENSMUST00000031900] [ENSMUST00000194597]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031899
AA Change: A588V

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: A588V

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:Peptidase_M13_N 81 463 1.5e-68 PFAM
Pfam:Peptidase_M13 521 712 2.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031900
SMART Domains Protein: ENSMUSP00000031900
Gene: ENSMUSG00000029867

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:DUF4717 37 107 7.8e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153760
Predicted Effect unknown
Transcript: ENSMUST00000192118
AA Change: A270V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192406
Predicted Effect probably benign
Transcript: ENSMUST00000194597
SMART Domains Protein: ENSMUSP00000142058
Gene: ENSMUSG00000029866

DomainStartEndE-ValueType
Pfam:Peptidase_M13 16 68 3.6e-10 PFAM
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 type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased heart rate, altered hematological parameters and ECG waveform features, decreased erythrocyte Mg2+ and K+ ion content, mild motor deficits, and giant axon changes with varying degrees of paranodal demyelination in the spinal cord and sciatic nerve. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,691 F23L probably damaging Het
Abcf3 A T 16: 20,551,684 M320L probably damaging Het
Adam4 A T 12: 81,420,649 H399Q probably damaging Het
Ank1 A G 8: 23,141,644 K140E probably damaging Het
Atg2a G A 19: 6,254,599 C1162Y probably damaging Het
Atp2b1 T A 10: 99,015,044 I34N probably damaging Het
Bin1 A T 18: 32,424,834 E260V probably benign Het
Birc2 G A 9: 7,833,715 S255L probably benign Het
Cdc42bpa A G 1: 180,074,684 Q502R probably benign Het
Cep170 A G 1: 176,735,696 V1584A probably benign Het
Commd3 A T 2: 18,674,665 R120S probably benign Het
Cyp39a1 A T 17: 43,701,543 I304L probably benign Het
Cyp3a44 A T 5: 145,779,724 M352K possibly damaging Het
Dna2 T C 10: 62,950,823 Y117H probably benign Het
Dnah6 A G 6: 73,083,157 probably benign Het
Dsc1 G A 18: 20,088,363 P685L probably benign Het
Efna5 T A 17: 62,613,379 I168L possibly damaging Het
Ephx1 A G 1: 180,999,800 F96S probably benign Het
Fig4 A T 10: 41,251,788 I560K probably damaging Het
Fktn T A 4: 53,734,992 I210N probably damaging Het
Fmnl1 T C 11: 103,180,955 V96A probably damaging Het
Gabra1 T G 11: 42,133,626 E407D probably benign Het
Gm5277 A T 3: 78,892,286 noncoding transcript Het
H2-M10.5 A T 17: 36,773,335 E63V possibly damaging Het
Icam5 T A 9: 21,034,697 V275E probably damaging Het
Klra5 T A 6: 129,906,605 E96D probably damaging Het
Limd1 C T 9: 123,480,076 T280I probably benign Het
Mul1 C A 4: 138,438,317 S95* probably null Het
Nlrp4a T C 7: 26,457,048 S733P probably benign Het
Ntn1 T A 11: 68,213,272 I517F possibly damaging Het
Ntrk3 T A 7: 78,247,322 M656L possibly damaging Het
Oacyl T G 18: 65,725,501 L226R possibly damaging Het
Olfr1314 A T 2: 112,092,094 N202K probably damaging Het
Olfr1378 A T 11: 50,969,119 M34L probably benign Het
Olfr199 A G 16: 59,216,466 I49T probably damaging Het
Pibf1 T A 14: 99,179,449 L486* probably null Het
Pla2g4c A G 7: 13,340,658 Y253C probably benign Het
Rims3 C A 4: 120,891,386 A268E probably benign Het
Rpl12 T C 2: 32,963,747 I129T probably benign Het
Rsl1 A T 13: 67,181,798 K103N probably benign Het
Scn11a A T 9: 119,793,938 W612R probably benign Het
Sdk2 G A 11: 113,854,384 T695M possibly damaging Het
Slc17a1 T A 13: 23,878,454 probably benign Het
Stam A T 2: 14,115,968 probably benign Het
Tacr3 T G 3: 134,932,355 N424K probably benign Het
Tas1r2 C T 4: 139,660,036 R240W probably damaging Het
Tle1 T C 4: 72,122,400 R648G probably damaging Het
Tmem92 T C 11: 94,782,428 D3G possibly damaging Het
Trip11 T C 12: 101,894,337 I250V probably null Het
Tspan8 C T 10: 115,844,139 probably benign Het
Vmn1r128 A G 7: 21,350,076 E235G probably benign Het
Vmn1r220 A G 13: 23,184,388 L46P probably damaging Het
Vmn2r9 T C 5: 108,849,037 E122G probably benign Het
Zfp27 A T 7: 29,894,958 N527K probably damaging Het
Other mutations in Kel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Kel APN 6 41688575 missense probably damaging 1.00
IGL00792:Kel APN 6 41702012 missense probably damaging 1.00
IGL01121:Kel APN 6 41702409 missense probably benign 0.00
IGL01286:Kel APN 6 41688117 splice site probably null
IGL01461:Kel APN 6 41701911 critical splice donor site probably null
IGL01836:Kel APN 6 41697438 missense possibly damaging 0.50
IGL02037:Kel APN 6 41697474 missense probably benign 0.01
IGL02103:Kel APN 6 41702389 missense probably benign 0.18
IGL02604:Kel APN 6 41687582 missense probably damaging 0.98
IGL03102:Kel APN 6 41702983 missense probably benign 0.00
IGL03274:Kel APN 6 41687995 unclassified probably null
IGL03355:Kel APN 6 41698887 critical splice donor site probably null
A4554:Kel UTSW 6 41697419 missense possibly damaging 0.95
R0121:Kel UTSW 6 41702064 unclassified probably benign
R0153:Kel UTSW 6 41701943 missense probably benign 0.08
R0535:Kel UTSW 6 41690838 missense probably null 0.21
R0658:Kel UTSW 6 41703031 missense probably damaging 1.00
R1005:Kel UTSW 6 41688617 missense probably damaging 1.00
R1199:Kel UTSW 6 41688591 missense possibly damaging 0.95
R1272:Kel UTSW 6 41703470 missense probably benign 0.00
R1531:Kel UTSW 6 41688626 missense probably damaging 0.99
R1880:Kel UTSW 6 41687545 missense possibly damaging 0.95
R2102:Kel UTSW 6 41686484 missense possibly damaging 0.86
R2118:Kel UTSW 6 41689300 missense probably benign
R2571:Kel UTSW 6 41688067 missense possibly damaging 0.62
R4209:Kel UTSW 6 41698425 nonsense probably null
R4210:Kel UTSW 6 41698425 nonsense probably null
R4260:Kel UTSW 6 41686423 utr 3 prime probably benign
R4382:Kel UTSW 6 41698400 missense probably benign 0.13
R5023:Kel UTSW 6 41688111 missense probably damaging 1.00
R5033:Kel UTSW 6 41699055 missense probably damaging 1.00
R5239:Kel UTSW 6 41688114 nonsense probably null
R5431:Kel UTSW 6 41698420 missense probably benign 0.23
R5742:Kel UTSW 6 41699027 missense probably damaging 1.00
R5745:Kel UTSW 6 41699027 missense probably damaging 1.00
R5746:Kel UTSW 6 41699027 missense probably damaging 1.00
R5978:Kel UTSW 6 41688045 missense probably benign 0.00
R6023:Kel UTSW 6 41697475 missense probably benign
R6109:Kel UTSW 6 41688862 missense probably benign 0.06
R6125:Kel UTSW 6 41690786 missense probably damaging 1.00
R6319:Kel UTSW 6 41702447 missense probably benign 0.05
R6368:Kel UTSW 6 41688851 nonsense probably null
R6864:Kel UTSW 6 41703760 critical splice donor site probably null
R6956:Kel UTSW 6 41687973 missense probably damaging 1.00
X0028:Kel UTSW 6 41698351 missense probably damaging 0.99
Posted On2013-04-17