Incidental Mutation 'R1531:Kel'
ID 166194
Institutional Source Beutler Lab
Gene Symbol Kel
Ensembl Gene ENSMUSG00000029866
Gene Name Kell blood group
Synonyms CD238
MMRRC Submission 039570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R1531 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 41663263-41681268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41665560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 520 (V520A)
Ref Sequence ENSEMBL: ENSMUSP00000031899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899] [ENSMUST00000031900] [ENSMUST00000194597]
AlphaFold Q9EQF2
Predicted Effect probably damaging
Transcript: ENSMUST00000031899
AA Change: V520A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: V520A

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: ENSMUST00000031900
SMART Domains Protein: ENSMUSP00000031900
Gene: ENSMUSG00000029867

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:DUF4717 37 107 7.8e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153760
Predicted Effect unknown
Transcript: ENSMUST00000192118
AA Change: V202A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192406
Predicted Effect probably benign
Transcript: ENSMUST00000194597
SMART Domains Protein: ENSMUSP00000142058
Gene: ENSMUSG00000029866

DomainStartEndE-ValueType
Pfam:Peptidase_M13 16 68 3.6e-10 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T A 13: 59,648,448 (GRCm39) probably null Het
Aldh3b2 T G 19: 4,027,543 (GRCm39) F28C probably damaging Het
Apaf1 T C 10: 90,890,383 (GRCm39) N540S probably damaging Het
Apob T C 12: 8,047,880 (GRCm39) I953T possibly damaging Het
Arhgef1 A G 7: 24,624,423 (GRCm39) T816A probably damaging Het
Arid4a T A 12: 71,122,779 (GRCm39) F1053L probably benign Het
Atxn1l A C 8: 110,458,691 (GRCm39) F524V probably damaging Het
Cad T A 5: 31,233,563 (GRCm39) M1874K probably benign Het
Ccdc40 G A 11: 119,154,015 (GRCm39) V1096I probably benign Het
Ccdc93 A G 1: 121,408,551 (GRCm39) D358G probably benign Het
Cd96 T C 16: 45,938,169 (GRCm39) T99A probably benign Het
Cdc42ep3 A T 17: 79,642,473 (GRCm39) M149K probably benign Het
Cgas A G 9: 78,349,763 (GRCm39) Y200H probably damaging Het
Cog4 A G 8: 111,606,353 (GRCm39) E613G probably benign Het
Crebbp A T 16: 3,902,381 (GRCm39) I2286N probably benign Het
Csf1 T C 3: 107,655,654 (GRCm39) E459G possibly damaging Het
Csrp2 A T 10: 110,771,066 (GRCm39) Y57F probably benign Het
Ctdspl C T 9: 118,869,650 (GRCm39) P244L probably damaging Het
Cyp2c29 A G 19: 39,313,412 (GRCm39) R303G probably damaging Het
Cyp4a10 C A 4: 115,375,632 (GRCm39) Y38* probably null Het
Dmgdh T A 13: 93,880,919 (GRCm39) I783N probably damaging Het
Efcc1 G A 6: 87,708,148 (GRCm39) E92K probably benign Het
Eif2ak4 T A 2: 118,273,691 (GRCm39) L872H probably damaging Het
Elp2 T A 18: 24,764,461 (GRCm39) S603T probably benign Het
Eml2 T A 7: 18,930,179 (GRCm39) L300H probably damaging Het
Esp3 A G 17: 40,946,827 (GRCm39) K50R possibly damaging Het
Esrp1 A G 4: 11,379,375 (GRCm39) F136L probably damaging Het
Exoc1 T A 5: 76,707,011 (GRCm39) D497E probably damaging Het
Fat3 A G 9: 15,908,761 (GRCm39) S2414P probably damaging Het
Foxj3 C T 4: 119,477,398 (GRCm39) P369S unknown Het
Gkn2 G T 6: 87,352,921 (GRCm39) probably null Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gm21905 A T 5: 68,103,724 (GRCm39) probably benign Het
Grhl1 T A 12: 24,632,962 (GRCm39) probably null Het
Grk6 A G 13: 55,599,967 (GRCm39) Y221C probably damaging Het
Hcrtr1 T A 4: 130,024,720 (GRCm39) K389* probably null Het
Hk1 G A 10: 62,120,563 (GRCm39) R545C probably damaging Het
Hsp90b1 A T 10: 86,532,659 (GRCm39) I339N probably benign Het
Ikzf3 T C 11: 98,381,272 (GRCm39) R103G probably damaging Het
Itgad A C 7: 127,777,542 (GRCm39) I141L probably benign Het
Jmjd6 T A 11: 116,733,266 (GRCm39) Y137F probably benign Het
Kcna1 A G 6: 126,619,030 (GRCm39) V430A probably benign Het
Klhl41 G A 2: 69,501,084 (GRCm39) V182I probably benign Het
Ldhb C A 6: 142,447,121 (GRCm39) M64I probably benign Het
Lrrc23 A G 6: 124,753,077 (GRCm39) S190P possibly damaging Het
Mboat2 T C 12: 25,009,029 (GRCm39) V445A probably benign Het
Mlycd G A 8: 120,128,258 (GRCm39) W188* probably null Het
Mpp3 C T 11: 101,899,475 (GRCm39) E349K probably benign Het
Mtres1 A G 10: 43,401,316 (GRCm39) V211A probably benign Het
Myh4 A G 11: 67,141,366 (GRCm39) M780V probably benign Het
Myh6 G A 14: 55,193,963 (GRCm39) R809C probably damaging Het
Mylip G A 13: 45,560,046 (GRCm39) V161M possibly damaging Het
Nrp1 G A 8: 129,152,450 (GRCm39) V220I probably null Het
Nup210 A T 6: 91,011,823 (GRCm39) N455K probably benign Het
Or14j10 A T 17: 37,935,243 (GRCm39) Y94* probably null Het
Or51f1d C A 7: 102,700,795 (GRCm39) Q97K probably benign Het
Pbld2 G T 10: 62,889,732 (GRCm39) probably null Het
Pclo C G 5: 14,571,917 (GRCm39) P434R probably damaging Het
Pdlim3 A G 8: 46,349,800 (GRCm39) K37E probably damaging Het
Prkdc T A 16: 15,589,970 (GRCm39) I2611N probably benign Het
Prr12 T C 7: 44,677,954 (GRCm39) D2019G unknown Het
Rab27a A G 9: 73,002,685 (GRCm39) T205A probably benign Het
Rcan3 A G 4: 135,152,595 (GRCm39) L42P probably damaging Het
Rchy1 T C 5: 92,103,474 (GRCm39) probably null Het
Sema6a T C 18: 47,382,066 (GRCm39) H827R probably damaging Het
Sertad4 A G 1: 192,533,258 (GRCm39) probably null Het
Smarcd1 T A 15: 99,605,264 (GRCm39) C282S probably damaging Het
Speg A G 1: 75,377,866 (GRCm39) T769A possibly damaging Het
Syne1 T A 10: 5,297,875 (GRCm39) K1141* probably null Het
Synpo2 T C 3: 122,911,315 (GRCm39) E110G probably benign Het
Tg T A 15: 66,722,351 (GRCm39) D333E probably benign Het
Tmem132c A G 5: 127,436,955 (GRCm39) Y148C probably damaging Het
Tmem215 T A 4: 40,473,965 (GRCm39) V14E probably damaging Het
Tmem229b A G 12: 79,011,685 (GRCm39) L82P probably damaging Het
Togaram1 A G 12: 65,013,039 (GRCm39) T97A probably benign Het
Trappc9 G A 15: 72,565,397 (GRCm39) R965* probably null Het
Trio T C 15: 27,833,071 (GRCm39) I104V probably benign Het
Trp73 A G 4: 154,148,352 (GRCm39) F354S probably benign Het
Ttyh2 T C 11: 114,577,278 (GRCm39) L63P probably damaging Het
Ulk4 G C 9: 120,873,841 (GRCm39) P1197A probably damaging Het
Vmn1r176 T C 7: 23,534,536 (GRCm39) M206V possibly damaging Het
Vps8 T A 16: 21,285,226 (GRCm39) Y402* probably null Het
Zbtb41 A G 1: 139,350,931 (GRCm39) I15V probably benign Het
Zc3hav1 T C 6: 38,284,170 (GRCm39) I982V possibly damaging Het
Zmynd19 T A 2: 24,848,123 (GRCm39) N106K 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
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
Predicted Primers PCR Primer
(F):5'- GCGCCAAAGTTCACAGCTCTAAAG -3'
(R):5'- TGCATCAAATGACCTGCTGCCTC -3'

Sequencing Primer
(F):5'- TCACAGCTCTAAAGAGATGAGATCTG -3'
(R):5'- CCAGAAATGTCCAGAGCTTCTTG -3'
Posted On 2014-04-13