Incidental Mutation 'R7938:Kel'
ID 648861
Institutional Source Beutler Lab
Gene Symbol Kel
Ensembl Gene ENSMUSG00000029866
Gene Name Kell blood group
Synonyms CD238
MMRRC Submission 045984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7938 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 41663263-41681268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 41675310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 314 (Q314K)
Ref Sequence ENSEMBL: ENSMUSP00000031899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899]
AlphaFold Q9EQF2
Predicted Effect probably benign
Transcript: ENSMUST00000031899
AA Change: Q314K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: Q314K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Bcam T G 7: 19,490,738 (GRCm39) E586D probably benign Het
Bmp7 A C 2: 172,721,283 (GRCm39) I264S probably benign Het
Casz1 G A 4: 149,028,943 (GRCm39) M1129I probably benign Het
Ccdc59 T A 10: 105,677,455 (GRCm39) N31K probably benign Het
Cfap61 A G 2: 145,887,376 (GRCm39) Y607C probably benign Het
Cnga1 T C 5: 72,761,597 (GRCm39) E639G probably benign Het
Coch T A 12: 51,643,366 (GRCm39) probably null Het
Col6a6 A C 9: 105,657,883 (GRCm39) Y776* probably null Het
Cyp1a1 T G 9: 57,609,073 (GRCm39) L318R probably damaging Het
Cyp3a16 T A 5: 145,389,666 (GRCm39) Y233F probably benign Het
Dgkz G T 2: 91,795,817 (GRCm39) R42S probably damaging Het
Dner A G 1: 84,673,218 (GRCm39) Y78H possibly damaging Het
Fat2 T C 11: 55,163,922 (GRCm39) N3111S probably damaging Het
Frmpd2 T C 14: 33,260,246 (GRCm39) S768P probably benign Het
Gm45861 T A 8: 28,071,990 (GRCm39) N1269K unknown Het
Gpr12 T A 5: 146,520,094 (GRCm39) Y276F possibly damaging Het
Hace1 C T 10: 45,562,792 (GRCm39) P769L probably benign Het
Hapln1 G A 13: 89,753,347 (GRCm39) R171H probably damaging Het
Hlx T G 1: 184,464,125 (GRCm39) T72P probably benign Het
Iqcm G T 8: 76,304,596 (GRCm39) C119F probably benign Het
Katna1 G T 10: 7,637,075 (GRCm39) A409S probably benign Het
Kcnip2 A T 19: 45,782,729 (GRCm39) I204N probably damaging Het
Klf5 T C 14: 99,536,444 (GRCm39) V5A probably damaging Het
Lax1 A T 1: 133,607,896 (GRCm39) C282S probably benign Het
Lyar A G 5: 38,388,295 (GRCm39) T274A probably benign Het
Mboat1 A G 13: 30,415,959 (GRCm39) H306R possibly damaging Het
Morn5 A T 2: 35,947,082 (GRCm39) Y120F probably benign Het
Mrgprx2 T C 7: 48,132,240 (GRCm39) T193A probably benign Het
Myh10 T A 11: 68,583,327 (GRCm39) W8R unknown Het
Nfasc A G 1: 132,533,269 (GRCm39) V644A probably damaging Het
Nup153 G T 13: 46,842,855 (GRCm39) probably null Het
Nup50l T C 6: 96,141,866 (GRCm39) K393E possibly damaging Het
Or1o4 T A 17: 37,590,991 (GRCm39) M107L probably benign Het
Or4x6 A T 2: 89,949,173 (GRCm39) Y256* probably null Het
Or5h19 A T 16: 58,856,325 (GRCm39) Y258* probably null Het
Orc4 A T 2: 48,800,203 (GRCm39) V315E possibly damaging Het
Pcsk5 T A 19: 17,443,549 (GRCm39) probably null Het
Pif1 A G 9: 65,502,073 (GRCm39) D635G probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppfia2 A G 10: 106,310,648 (GRCm39) T52A probably damaging Het
Ppp1r36 A T 12: 76,485,180 (GRCm39) D301V probably damaging Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Qser1 A C 2: 104,619,312 (GRCm39) V410G probably damaging Het
Reln A C 5: 22,155,870 (GRCm39) N2207K probably damaging Het
Rimkla A G 4: 119,327,810 (GRCm39) V180A probably benign Het
Rpa1 CA C 11: 75,198,050 (GRCm39) probably null Het
Rsph3a G T 17: 8,165,050 (GRCm39) E137* probably null Het
Spata31f1a A G 4: 42,850,765 (GRCm39) S464P possibly damaging Het
Sqle C A 15: 59,196,315 (GRCm39) H369Q probably damaging Het
Srebf2 T A 15: 82,057,016 (GRCm39) D250E probably damaging Het
Svs3b A T 2: 164,097,567 (GRCm39) C251* probably null Het
Tdrd9 A T 12: 111,997,649 (GRCm39) N713Y possibly damaging Het
Terf2ip T C 8: 112,738,717 (GRCm39) S202P possibly damaging Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trav8-1 T G 14: 53,707,688 (GRCm39) D109E possibly damaging Het
Trem2 T A 17: 48,658,777 (GRCm39) S181T probably benign Het
Trim37 A G 11: 87,037,863 (GRCm39) N199S probably benign Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ubxn8 A G 8: 34,111,712 (GRCm39) M227T probably damaging Het
Uggt2 T A 14: 119,296,519 (GRCm39) I448F possibly damaging Het
Usp47 T A 7: 111,687,132 (GRCm39) L697M probably damaging Het
Vmn2r52 T C 7: 9,893,300 (GRCm39) D613G probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Zfp423 T C 8: 88,622,304 (GRCm39) Y11C unknown Het
Zw10 T A 9: 48,982,933 (GRCm39) D521E 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
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
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
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'- TCCATGTCACAGGTGCCTTC -3'
(R):5'- TGGGACTTTAGGCAGAAATGTG -3'

Sequencing Primer
(F):5'- ACAGGTGCCTTCCACTCACG -3'
(R):5'- GCCTTCTACCATATAGGCTAGGAG -3'
Posted On 2020-09-15