Incidental Mutation 'R5978:Kel'
| ID |
481248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kel
|
| Ensembl Gene |
ENSMUSG00000029866 |
| Gene Name |
Kell blood group |
| Synonyms |
CD238 |
| MMRRC Submission |
044160-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41686330-41704339 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41688045 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 595
(H595L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031899]
[ENSMUST00000031900]
[ENSMUST00000194597]
|
| AlphaFold |
Q9EQF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031899
AA Change: H595L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: H595L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: H277L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192406
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194597
|
| SMART Domains |
Protein: ENSMUSP00000142058
Gene: ENSMUSG00000029866
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M13
|
16 |
68 |
3.6e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks6 |
T |
A |
4: 47,049,252 (GRCm38) |
S218C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 119,749,875 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
T |
G |
5: 21,316,968 (GRCm38) |
I353L |
probably benign |
Het |
| Cst3 |
A |
T |
2: 148,872,821 (GRCm38) |
M112K |
probably benign |
Het |
| Cst3 |
T |
G |
2: 148,872,822 (GRCm38) |
M112L |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,319,352 (GRCm38) |
L242R |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 37,998,280 (GRCm38) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,315,774 (GRCm38) |
I1253M |
possibly damaging |
Het |
| Fstl5 |
C |
T |
3: 76,145,085 (GRCm38) |
H41Y |
probably damaging |
Het |
| Gm11011 |
T |
C |
2: 169,584,441 (GRCm38) |
K84R |
unknown |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,997,940 (GRCm38) |
|
probably benign |
Het |
| Heatr5b |
C |
A |
17: 78,806,036 (GRCm38) |
V923F |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,034,191 (GRCm38) |
T473M |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,722,993 (GRCm38) |
Y845N |
probably damaging |
Het |
| Il34 |
T |
A |
8: 110,742,685 (GRCm38) |
D166V |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,862,928 (GRCm38) |
I313M |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,530,230 (GRCm38) |
E274G |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 72,090,188 (GRCm38) |
Y818C |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,315,393 (GRCm38) |
Y1046F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,117,443 (GRCm38) |
D1429V |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,424,671 (GRCm38) |
M325T |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,540,419 (GRCm38) |
I1902N |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,485,026 (GRCm38) |
|
probably null |
Het |
| Nlrc5 |
A |
T |
8: 94,488,593 (GRCm38) |
N940Y |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,557,278 (GRCm38) |
I107K |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,694,013 (GRCm38) |
S328P |
possibly damaging |
Het |
| Or1j17 |
A |
C |
2: 36,688,682 (GRCm38) |
K227Q |
probably benign |
Het |
| Parp8 |
A |
C |
13: 116,895,732 (GRCm38) |
S302A |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,295,258 (GRCm38) |
E27* |
probably null |
Het |
| Rnf115 |
T |
A |
3: 96,788,666 (GRCm38) |
I256N |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,672,269 (GRCm38) |
H3515L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,529,254 (GRCm38) |
|
probably null |
Het |
| Slc4a5 |
T |
A |
6: 83,277,536 (GRCm38) |
S572T |
probably benign |
Het |
| Slc4a9 |
T |
G |
18: 36,535,403 (GRCm38) |
I705S |
probably damaging |
Het |
| Spint4 |
C |
T |
2: 164,700,332 (GRCm38) |
P101L |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,436,413 (GRCm38) |
D212E |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,591,030 (GRCm38) |
M449K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,808,799 (GRCm38) |
T13877A |
possibly damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,577,127 (GRCm38) |
N20S |
probably benign |
Het |
| Vmn1r14 |
C |
T |
6: 57,233,944 (GRCm38) |
S169F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 145,122,611 (GRCm38) |
H2410R |
probably benign |
Het |
| Wdr81 |
G |
A |
11: 75,444,398 (GRCm38) |
L1781F |
probably damaging |
Het |
| Zfp91 |
A |
G |
19: 12,770,151 (GRCm38) |
I536T |
probably benign |
Het |
|
| Other mutations in Kel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Kel
|
APN |
6 |
41,688,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00792:Kel
|
APN |
6 |
41,702,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00972:Kel
|
APN |
6 |
41,688,066 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL01121:Kel
|
APN |
6 |
41,702,409 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01286:Kel
|
APN |
6 |
41,688,117 (GRCm38) |
splice site |
probably null |
|
|
IGL01461:Kel
|
APN |
6 |
41,701,911 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01836:Kel
|
APN |
6 |
41,697,438 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02037:Kel
|
APN |
6 |
41,697,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02103:Kel
|
APN |
6 |
41,702,389 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02604:Kel
|
APN |
6 |
41,687,582 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03102:Kel
|
APN |
6 |
41,702,983 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03274:Kel
|
APN |
6 |
41,687,995 (GRCm38) |
splice site |
probably null |
|
|
IGL03355:Kel
|
APN |
6 |
41,698,887 (GRCm38) |
critical splice donor site |
probably null |
|
|
A4554:Kel
|
UTSW |
6 |
41,697,419 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0121:Kel
|
UTSW |
6 |
41,702,064 (GRCm38) |
unclassified |
probably benign |
|
|
R0153:Kel
|
UTSW |
6 |
41,701,943 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0535:Kel
|
UTSW |
6 |
41,690,838 (GRCm38) |
missense |
probably null |
0.21 |
|
R0658:Kel
|
UTSW |
6 |
41,703,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1005:Kel
|
UTSW |
6 |
41,688,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1199:Kel
|
UTSW |
6 |
41,688,591 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1272:Kel
|
UTSW |
6 |
41,703,470 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1531:Kel
|
UTSW |
6 |
41,688,626 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1880:Kel
|
UTSW |
6 |
41,687,545 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2102:Kel
|
UTSW |
6 |
41,686,484 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2118:Kel
|
UTSW |
6 |
41,689,300 (GRCm38) |
missense |
probably benign |
|
|
R2571:Kel
|
UTSW |
6 |
41,688,067 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4209:Kel
|
UTSW |
6 |
41,698,425 (GRCm38) |
nonsense |
probably null |
|
|
R4210:Kel
|
UTSW |
6 |
41,698,425 (GRCm38) |
nonsense |
probably null |
|
|
R4260:Kel
|
UTSW |
6 |
41,686,423 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4382:Kel
|
UTSW |
6 |
41,698,400 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5023:Kel
|
UTSW |
6 |
41,688,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5033:Kel
|
UTSW |
6 |
41,699,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5239:Kel
|
UTSW |
6 |
41,688,114 (GRCm38) |
nonsense |
probably null |
|
|
R5431:Kel
|
UTSW |
6 |
41,698,420 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5742:Kel
|
UTSW |
6 |
41,699,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5745:Kel
|
UTSW |
6 |
41,699,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5746:Kel
|
UTSW |
6 |
41,699,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6023:Kel
|
UTSW |
6 |
41,697,475 (GRCm38) |
missense |
probably benign |
|
|
R6109:Kel
|
UTSW |
6 |
41,688,862 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6125:Kel
|
UTSW |
6 |
41,690,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6319:Kel
|
UTSW |
6 |
41,702,447 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6368:Kel
|
UTSW |
6 |
41,688,851 (GRCm38) |
nonsense |
probably null |
|
|
R6864:Kel
|
UTSW |
6 |
41,703,760 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6956:Kel
|
UTSW |
6 |
41,687,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7644:Kel
|
UTSW |
6 |
41,690,808 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7938:Kel
|
UTSW |
6 |
41,698,376 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8028:Kel
|
UTSW |
6 |
41,699,024 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8082:Kel
|
UTSW |
6 |
41,703,490 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8465:Kel
|
UTSW |
6 |
41,689,538 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9158:Kel
|
UTSW |
6 |
41,687,971 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9518:Kel
|
UTSW |
6 |
41,702,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9726:Kel
|
UTSW |
6 |
41,702,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9769:Kel
|
UTSW |
6 |
41,702,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Kel
|
UTSW |
6 |
41,698,351 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Kel
|
UTSW |
6 |
41,687,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Kel
|
UTSW |
6 |
41,689,559 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCAGAAAGCTATGCAACC -3'
(R):5'- TCATGGCCCATGAATTGTTGC -3'
Sequencing Primer
(F):5'- GAAAGCTATGCAACCACATTTCTG -3'
(R):5'- GGCCCATGAATTGTTGCATATC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation