Incidental Mutation 'R6864:Kel'
ID 535803
Institutional Source Beutler Lab
Gene Symbol Kel
Ensembl Gene ENSMUSG00000029866
Gene Name Kell blood group
Synonyms CD238
MMRRC Submission 044964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6864 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 41663263-41681268 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 41680694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899]
AlphaFold Q9EQF2
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 benign
Transcript: ENSMUST00000192118
Meta Mutation Damage Score 0.9373 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Anln A T 9: 22,293,545 (GRCm39) S33T probably benign Het
Anxa6 T C 11: 54,877,011 (GRCm39) T541A probably benign Het
Atxn2 C T 5: 121,917,557 (GRCm39) R334W probably damaging Het
AU040320 T A 4: 126,741,612 (GRCm39) V940D probably damaging Het
Bcl2 A T 1: 106,471,011 (GRCm39) Y232N probably damaging Het
Bmp7 A G 2: 172,781,855 (GRCm39) V3A probably benign Het
Calr A T 8: 85,571,557 (GRCm39) H145Q probably damaging Het
Camta2 T A 11: 70,562,792 (GRCm39) T976S probably benign Het
Ccnk G A 12: 108,168,473 (GRCm39) probably benign Het
Cntln T C 4: 85,015,029 (GRCm39) S1107P probably damaging Het
Cradd T C 10: 95,011,789 (GRCm39) D117G probably damaging Het
Dcaf7 C T 11: 105,937,647 (GRCm39) T90I probably damaging Het
Defb30 T A 14: 63,273,552 (GRCm39) probably null Het
Dock4 T A 12: 40,795,745 (GRCm39) I854N probably damaging Het
Dym T A 18: 75,189,809 (GRCm39) Y132* probably null Het
Eef1a2 T C 2: 180,791,477 (GRCm39) T341A probably benign Het
Eml2 T C 7: 18,930,206 (GRCm39) V309A probably damaging Het
Flnb C T 14: 7,905,640 (GRCm38) P1130L possibly damaging Het
Hivep3 C A 4: 119,952,085 (GRCm39) Q134K possibly damaging Het
Kbtbd2 T A 6: 56,757,011 (GRCm39) K242* probably null Het
Lcorl T A 5: 45,904,546 (GRCm39) K177N probably damaging Het
Mbd3l2 A G 9: 18,354,795 (GRCm39) probably benign Het
Mcm3ap A G 10: 76,343,313 (GRCm39) D1735G probably damaging Het
Ms4a1 C A 19: 11,230,542 (GRCm39) probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mylk C A 16: 34,694,520 (GRCm39) P193Q probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or2y16 G T 11: 49,334,767 (GRCm39) A30S probably benign Het
Or2y17 A T 11: 49,231,580 (GRCm39) T74S probably damaging Het
Or4d10b A T 19: 12,036,777 (GRCm39) F113Y probably damaging Het
Or4f52 C T 2: 111,061,542 (GRCm39) V199I probably benign Het
Otogl C T 10: 107,663,667 (GRCm39) S968N probably damaging Het
Oxr1 T G 15: 41,686,783 (GRCm39) V555G probably damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Peg3 T C 7: 6,715,761 (GRCm39) Y103C probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Prkacb T C 3: 146,451,133 (GRCm39) Y204C probably damaging Het
Prkch A G 12: 73,806,391 (GRCm39) E546G probably damaging Het
Prss12 C A 3: 123,241,033 (GRCm39) H76N probably benign Het
Rai14 G T 15: 10,633,254 (GRCm39) S45R possibly damaging Het
Samd9l T A 6: 3,374,750 (GRCm39) D837V probably benign Het
Slc22a6 G T 19: 8,595,805 (GRCm39) C49F probably damaging Het
Slc2a2 T A 3: 28,775,874 (GRCm39) I328N probably damaging Het
Slc35f4 T C 14: 49,556,310 (GRCm39) I148V possibly damaging Het
Stk32b A T 5: 37,606,149 (GRCm39) probably null Het
Tasor T A 14: 27,183,115 (GRCm39) F525I probably damaging Het
Tktl2 T C 8: 66,964,991 (GRCm39) I183T probably damaging Het
Tmem175 A C 5: 108,793,845 (GRCm39) H325P probably damaging Het
Tns3 A G 11: 8,443,196 (GRCm39) V389A probably damaging Het
Trappc9 A T 15: 72,809,011 (GRCm39) probably null Het
Trim28 T A 7: 12,763,385 (GRCm39) F509I possibly damaging Het
Vmn1r210 T A 13: 23,011,713 (GRCm39) Q191L probably benign Het
Vmn2r24 A T 6: 123,756,117 (GRCm39) D63V possibly damaging Het
Zfp536 A G 7: 37,267,940 (GRCm39) L492P probably damaging Het
Zfp831 C A 2: 174,488,533 (GRCm39) N1069K possibly damaging Het
Zfp943 T A 17: 22,211,593 (GRCm39) H226Q probably damaging 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
IGL01836:Kel APN 6 41,674,372 (GRCm39) missense possibly damaging 0.50
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
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
Predicted Primers PCR Primer
(F):5'- TGGAGAACTCTAGTCAGGGAAC -3'
(R):5'- GCTTCATTCGGGAAATGGCC -3'

Sequencing Primer
(F):5'- AAAAACATCACAAAGAAGTTTGGG -3'
(R):5'- CTTCATTCGGGAAATGGCCTTAAG -3'
Posted On 2018-10-18