Incidental Mutation 'IGL03355:Kel'
ID419926
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 #IGL03355
Quality Score
Status
Chromosome6
Chromosomal Location41686330-41704339 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 41698887 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899]
Predicted Effect probably null
Transcript: ENSMUST00000031899
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866

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 null
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik C A X: 107,788,283 V180F possibly damaging Het
Actrt1 T C X: 46,329,747 V213A probably benign Het
Adam28 A T 14: 68,634,803 probably benign Het
Apeh T C 9: 108,086,445 H557R probably benign Het
Atmin T A 8: 116,957,425 L608* probably null Het
B3gnt5 A T 16: 19,769,153 M41L probably benign Het
Best3 T C 10: 116,993,105 F97L possibly damaging Het
Col7a1 G A 9: 108,978,160 V2486M unknown Het
Crym T C 7: 120,199,313 probably null Het
Cubn T C 2: 13,478,057 probably null Het
Dnah7b A G 1: 46,119,304 D349G probably benign Het
Eea1 T C 10: 96,042,212 probably benign Het
Emc1 C T 4: 139,371,593 probably benign Het
Eps8 T C 6: 137,512,145 probably benign Het
Ereg A G 5: 91,088,581 probably benign Het
Faah G A 4: 116,002,528 P369S probably benign Het
Fam135a A T 1: 24,029,168 N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 S622P probably damaging Het
Gm10030 A G 9: 111,006,773 noncoding transcript Het
Gpr179 A T 11: 97,337,608 S1240R possibly damaging Het
Hax1 A T 3: 89,997,447 H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 N31D possibly damaging Het
Khk A T 5: 30,929,560 I108L probably benign Het
Morc4 T C X: 139,849,682 N375S probably null Het
Mta3 A T 17: 83,800,045 probably benign Het
Nacc2 T C 2: 26,062,237 K369R probably damaging Het
Nkap T C X: 37,139,670 probably benign Het
Obscn A T 11: 59,037,792 L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 Q20L probably benign Het
Olfr589 T C 7: 103,155,201 E182G probably damaging Het
Pde4c T A 8: 70,746,595 L182Q probably damaging Het
Pla2g10 G T 16: 13,730,420 probably null Het
Rap1gap2 T A 11: 74,412,344 I426F probably damaging Het
Rbm33 C A 5: 28,391,061 probably benign Het
Rnf139 C A 15: 58,900,032 D635E probably benign Het
Sar1a T C 10: 61,684,939 V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 S56A probably benign Het
Scn3a T C 2: 65,460,568 K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 G118R unknown Het
Sgce T A 6: 4,689,738 Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 Y277* probably null Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Sphkap A T 1: 83,280,503 I173N probably damaging Het
Spred3 C T 7: 29,161,572 C394Y unknown Het
Stra6l A G 4: 45,873,689 D283G probably benign Het
Tipin A T 9: 64,288,124 Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 I380F probably benign Het
Tymp T C 15: 89,375,016 D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 S1024P possibly 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
IGL00972:Kel APN 6 41688066 missense possibly damaging 0.62
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
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 On2016-08-02