Incidental Mutation 'IGL01836:Kel'
ID 154957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kel
Ensembl Gene ENSMUSG00000029866
Gene Name Kell blood group
Synonyms CD238
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01836
Quality Score
Status
Chromosome 6
Chromosomal Location 41663263-41681268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41674372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 353 (T353S)
Ref Sequence ENSEMBL: ENSMUSP00000031899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899]
AlphaFold Q9EQF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000031899
AA Change: T353S

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: T353S

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: ENSMUST00000192118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192406
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh6a A G 3: 138,019,097 (GRCm39) probably benign Het
Atp1a1 C T 3: 101,498,730 (GRCm39) G188R probably damaging Het
Cadps A G 14: 12,522,311 (GRCm38) Y618H probably damaging Het
Dot1l T C 10: 80,621,700 (GRCm39) S451P probably benign Het
Dpysl4 G A 7: 138,676,089 (GRCm39) V294I possibly damaging Het
Ehmt1 T A 2: 24,753,232 (GRCm39) probably null Het
Eps8 C T 6: 137,460,539 (GRCm39) probably null Het
Gm7247 T A 14: 51,602,853 (GRCm39) I63K probably damaging Het
Gsdme T A 6: 50,199,769 (GRCm39) D270V probably damaging Het
Krt73 T C 15: 101,704,331 (GRCm39) H403R probably benign Het
Mrnip A G 11: 50,090,675 (GRCm39) T280A probably benign Het
Or1j14 C T 2: 36,417,837 (GRCm39) Q138* probably null Het
Pkdrej A G 15: 85,705,159 (GRCm39) L259P probably damaging Het
Plod2 T C 9: 92,488,551 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,593,356 (GRCm39) S415P probably benign Het
Rag1 A T 2: 101,472,239 (GRCm39) F968I probably damaging Het
Rreb1 T C 13: 38,115,433 (GRCm39) S931P probably damaging Het
Sec23a T C 12: 59,018,073 (GRCm39) I618V probably damaging Het
Smtnl1 A T 2: 84,645,714 (GRCm39) F386I probably damaging Het
Sppl2b C T 10: 80,697,220 (GRCm39) T30I probably benign Het
Srf T C 17: 46,860,108 (GRCm39) probably benign Het
Tbc1d22b A G 17: 29,818,932 (GRCm39) T429A probably damaging Het
Tcf20 A T 15: 82,739,356 (GRCm39) D698E probably damaging Het
Tmem106c C A 15: 97,867,567 (GRCm39) S250R probably benign Het
Tmprss3 A G 17: 31,410,018 (GRCm39) S199P probably benign Het
Ush2a C T 1: 188,492,060 (GRCm39) probably benign Het
Zfp595 A G 13: 67,480,525 (GRCm39) probably benign Het
Other mutations in Kel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Kel APN 6 41,665,509 (GRCm39) missense probably damaging 1.00
IGL00792:Kel APN 6 41,678,946 (GRCm39) missense probably damaging 1.00
IGL00972:Kel APN 6 41,665,000 (GRCm39) missense possibly damaging 0.62
IGL01121:Kel APN 6 41,679,343 (GRCm39) missense probably benign 0.00
IGL01286:Kel APN 6 41,665,051 (GRCm39) splice site probably null
IGL01461:Kel APN 6 41,678,845 (GRCm39) critical splice donor site probably null
IGL02037:Kel APN 6 41,674,408 (GRCm39) missense probably benign 0.01
IGL02103:Kel APN 6 41,679,323 (GRCm39) missense probably benign 0.18
IGL02604:Kel APN 6 41,664,516 (GRCm39) missense probably damaging 0.98
IGL03102:Kel APN 6 41,679,917 (GRCm39) missense probably benign 0.00
IGL03274:Kel APN 6 41,664,929 (GRCm39) splice site probably null
IGL03355:Kel APN 6 41,675,821 (GRCm39) critical splice donor site probably null
A4554:Kel UTSW 6 41,674,353 (GRCm39) missense possibly damaging 0.95
R0121:Kel UTSW 6 41,678,998 (GRCm39) unclassified probably benign
R0153:Kel UTSW 6 41,678,877 (GRCm39) missense probably benign 0.08
R0535:Kel UTSW 6 41,667,772 (GRCm39) missense probably null 0.21
R0658:Kel UTSW 6 41,679,965 (GRCm39) missense probably damaging 1.00
R1005:Kel UTSW 6 41,665,551 (GRCm39) missense probably damaging 1.00
R1199:Kel UTSW 6 41,665,525 (GRCm39) missense possibly damaging 0.95
R1272:Kel UTSW 6 41,680,404 (GRCm39) missense probably benign 0.00
R1531:Kel UTSW 6 41,665,560 (GRCm39) missense probably damaging 0.99
R1880:Kel UTSW 6 41,664,479 (GRCm39) missense possibly damaging 0.95
R2102:Kel UTSW 6 41,663,418 (GRCm39) missense possibly damaging 0.86
R2118:Kel UTSW 6 41,666,234 (GRCm39) missense probably benign
R2571:Kel UTSW 6 41,665,001 (GRCm39) missense possibly damaging 0.62
R4209:Kel UTSW 6 41,675,359 (GRCm39) nonsense probably null
R4210:Kel UTSW 6 41,675,359 (GRCm39) nonsense probably null
R4260:Kel UTSW 6 41,663,357 (GRCm39) utr 3 prime probably benign
R4382:Kel UTSW 6 41,675,334 (GRCm39) missense probably benign 0.13
R5023:Kel UTSW 6 41,665,045 (GRCm39) missense probably damaging 1.00
R5033:Kel UTSW 6 41,675,989 (GRCm39) missense probably damaging 1.00
R5239:Kel UTSW 6 41,665,048 (GRCm39) nonsense probably null
R5431:Kel UTSW 6 41,675,354 (GRCm39) missense probably benign 0.23
R5742:Kel UTSW 6 41,675,961 (GRCm39) missense probably damaging 1.00
R5745:Kel UTSW 6 41,675,961 (GRCm39) missense probably damaging 1.00
R5746:Kel UTSW 6 41,675,961 (GRCm39) missense probably damaging 1.00
R5978:Kel UTSW 6 41,664,979 (GRCm39) missense probably benign 0.00
R6023:Kel UTSW 6 41,674,409 (GRCm39) missense probably benign
R6109:Kel UTSW 6 41,665,796 (GRCm39) missense probably benign 0.06
R6125:Kel UTSW 6 41,667,720 (GRCm39) missense probably damaging 1.00
R6319:Kel UTSW 6 41,679,381 (GRCm39) missense probably benign 0.05
R6368:Kel UTSW 6 41,665,785 (GRCm39) nonsense probably null
R6864:Kel UTSW 6 41,680,694 (GRCm39) critical splice donor site probably null
R6956:Kel UTSW 6 41,664,907 (GRCm39) missense probably damaging 1.00
R7644:Kel UTSW 6 41,667,742 (GRCm39) missense probably benign 0.03
R7938:Kel UTSW 6 41,675,310 (GRCm39) missense probably benign 0.06
R8028:Kel UTSW 6 41,675,958 (GRCm39) missense probably benign 0.21
R8082:Kel UTSW 6 41,680,424 (GRCm39) missense possibly damaging 0.94
R8465:Kel UTSW 6 41,666,472 (GRCm39) critical splice donor site probably null
R9158:Kel UTSW 6 41,664,905 (GRCm39) missense probably benign 0.10
R9518:Kel UTSW 6 41,679,334 (GRCm39) missense probably damaging 1.00
R9726:Kel UTSW 6 41,678,971 (GRCm39) missense probably damaging 1.00
R9769:Kel UTSW 6 41,678,990 (GRCm39) missense probably damaging 1.00
X0028:Kel UTSW 6 41,675,285 (GRCm39) missense probably damaging 0.99
Z1176:Kel UTSW 6 41,664,506 (GRCm39) missense probably damaging 1.00
Z1177:Kel UTSW 6 41,666,493 (GRCm39) missense probably benign
Posted On 2014-02-04