Incidental Mutation 'R5431:Kel'
ID 428045
Institutional Source Beutler Lab
Gene Symbol Kel
Ensembl Gene ENSMUSG00000029866
Gene Name Kell blood group
Synonyms CD238
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 41663263-41681268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41675354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 299 (S299F)
Ref Sequence ENSEMBL: ENSMUSP00000031899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899]
AlphaFold Q9EQF2
Predicted Effect probably benign
Transcript: ENSMUST00000031899
AA Change: S299F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: S299F

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly 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
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
Predicted Primers PCR Primer
(F):5'- ATGTCACAGGTGCCTTCCAC -3'
(R):5'- CTGTGGGACTTTAGGCAGAAATG -3'

Sequencing Primer
(F):5'- ACTCACGGTGCCCCTGATAC -3'
(R):5'- GCCTTCTACCATATAGGCTAGGAG -3'
Posted On 2016-09-01