Mutagenetix > Incidental Mutation

Incidental Mutation 'R1272:Kel'

151340

Institutional Source

Beutler Lab

Gene Symbol

Kel

Ensembl Gene

ENSMUSG00000029866

Gene Name

Kell blood group

Synonyms

CD238

MMRRC Submission

039338-MU

Accession Numbers

Essential gene?

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

Stock #

R1272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41663263-41681268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41680404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 19 (W19R)

Ref Sequence

ENSEMBL: ENSMUSP00000031899 (fasta)

Gene Model

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

AlphaFold

Q9EQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000031899
AA Change: W19R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: W19R

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: ENSMUST00000192118

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,313,977 (GRCm39)	L567P	probably damaging	Het
Aldh3b1	A	G	19: 3,971,746 (GRCm39)	L75P	probably damaging	Het
Ap1m2	A	T	9: 21,217,006 (GRCm39)	V110E	possibly damaging	Het
Bzw1	T	C	1: 58,436,979 (GRCm39)	L70P	probably damaging	Het
Cacna1e	T	C	1: 154,320,714 (GRCm39)	K1347R	probably damaging	Het
Cd320	T	C	17: 34,067,138 (GRCm39)	V209A	possibly damaging	Het
Cmya5	T	C	13: 93,231,620 (GRCm39)	E1156G	possibly damaging	Het
Dop1a	A	G	9: 86,403,477 (GRCm39)	D1559G	probably damaging	Het
Ksr1	G	A	11: 79,036,904 (GRCm39)	Q68*	probably null	Het
Leo1	G	A	9: 75,357,795 (GRCm39)	D397N	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mapre3	T	A	5: 31,019,232 (GRCm39)	N25K	probably damaging	Het
Mki67	T	A	7: 135,302,143 (GRCm39)	K964*	probably null	Het
Nav3	G	C	10: 109,572,860 (GRCm39)	H1600D	probably damaging	Het
Rdh10	C	A	1: 16,178,240 (GRCm39)	H171N	probably damaging	Het
Ric8a	T	C	7: 140,442,289 (GRCm39)	M513T	probably benign	Het
Rnf20	A	G	4: 49,651,496 (GRCm39)	E654G	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfcp2l1	C	A	1: 118,560,043 (GRCm39)	P45Q	probably damaging	Het
Usp54	C	T	14: 20,611,178 (GRCm39)	V1213I	probably damaging	Het
Zfp616	A	T	11: 73,976,062 (GRCm39)	Q777L	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
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
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'- CAGACCTTAGGACTTGTTGCCTGC -3'
(R):5'- TAAGTGGCCTCTGCCATCACACTG -3'

Sequencing Primer
(F):5'- TAGATCCCCAGGGACCATGAAG -3'
(R):5'- AGTCCTGAAAATCCTGTTTGATCC -3'

Posted On

2014-01-29