Mutagenetix > Incidental Mutation

Incidental Mutation 'R8028:Kel'

628862

Institutional Source

Beutler Lab

Gene Symbol

Kel

Ensembl Gene

ENSMUSG00000029866

Gene Name

Kell blood group

Synonyms

CD238

MMRRC Submission

067467-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41663263-41681268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41675958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 244 (S244N)

Ref Sequence

ENSEMBL: ENSMUSP00000031899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031899]

AlphaFold

Q9EQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000031899
AA Change: S244N

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: S244N

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.4%

Validation Efficiency

97% (35/36)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,626,671 (GRCm39)	R1500Q	probably benign	Het
Arhgap21	C	T	2: 20,885,216 (GRCm39)	V664M	probably benign	Het
Arhgef11	T	C	3: 87,642,859 (GRCm39)	V1464A	probably benign	Het
Ccdc121	G	T	5: 31,645,266 (GRCm39)	V340F	possibly damaging	Het
Ccdc158	G	T	5: 92,782,110 (GRCm39)	H836Q	probably damaging	Het
Clcn2	T	A	16: 20,527,512 (GRCm39)	Y584F	possibly damaging	Het
Csn1s2b	G	T	5: 87,966,951 (GRCm39)	M84I	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gimap4	A	T	6: 48,667,684 (GRCm39)	R146S	probably damaging	Het
Gm20671	T	C	5: 32,952,958 (GRCm39)	N184S	possibly damaging	Het
Gpr179	T	C	11: 97,228,627 (GRCm39)	E1176G	probably damaging	Het
Hif1a	T	C	12: 73,988,801 (GRCm39)	S589P	probably benign	Het
Kcna7	T	A	7: 45,058,947 (GRCm39)	C411*	probably null	Het
Lama2	A	T	10: 27,204,145 (GRCm39)	S498T	probably benign	Het
Map4	C	T	9: 109,897,812 (GRCm39)	T846I	probably damaging	Het
Myh8	T	C	11: 67,194,502 (GRCm39)	V1571A	possibly damaging	Het
Osbpl5	T	C	7: 143,269,472 (GRCm39)	T47A	probably benign	Het
Parl	T	C	16: 20,098,801 (GRCm39)	K353E	probably benign	Het
Pcdhb17	G	A	18: 37,620,502 (GRCm39)	S764N	probably benign	Het
Poglut1	A	G	16: 38,355,095 (GRCm39)	S244P	probably damaging	Het
Polq	C	T	16: 36,881,678 (GRCm39)	H1281Y	possibly damaging	Het
Rsf1	CG	CGACCGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sardh	C	T	2: 27,120,467 (GRCm39)	M438I	probably damaging	Het
Slc14a1	T	C	18: 78,159,727 (GRCm39)	I55M	probably benign	Het
Slc22a12	T	A	19: 6,588,469 (GRCm39)	T350S	probably benign	Het
Srrt	CACCTTCTCCCCAGAACCCCACACCTTACCTG	C	5: 137,300,760 (GRCm39)		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stk38l	T	C	6: 146,674,881 (GRCm39)	F382S	probably damaging	Het
Swt1	G	T	1: 151,260,248 (GRCm39)	T717K	probably benign	Het
Tmem230	A	G	2: 132,085,985 (GRCm39)	L59P	probably benign	Het
Vmn2r98	A	T	17: 19,273,912 (GRCm39)	Y53F	probably benign	Het
Zscan12	C	T	13: 21,553,022 (GRCm39)	S282L	probably benign	Het

Other mutations in Kel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7938:Kel	UTSW	6	41,675,310 (GRCm39)	missense	probably benign	0.06
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'- TTGAGAGACCATCAAGCACAG -3'
(R):5'- CTCTTGTGTCCAGATAGACCAGC -3'

Sequencing Primer
(F):5'- GAGTCCCCAGACCCTCAG -3'
(R):5'- TAGACCAGCCGGAGTTTGACATTC -3'

Posted On

2020-06-30