Mutagenetix > Incidental Mutation

Incidental Mutation 'R5745:Kel'

445746

Institutional Source

Beutler Lab

Gene Symbol

Kel

Ensembl Gene

ENSMUSG00000029866

Gene Name

Kell blood group

Synonyms

CD238

MMRRC Submission

043198-MU

Accession Numbers

Essential gene?

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

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41663263-41681268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41675961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 243 (G243E)

Ref Sequence

ENSEMBL: ENSMUSP00000031899 (fasta)

Gene Model

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

AlphaFold

Q9EQF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031899
AA Change: G243E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: G243E

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

unknown
Transcript: ENSMUST00000192118
AA Change: G18E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192406

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,828 (GRCm39)	R74W	probably damaging	Het
4933407L21Rik	T	G	1: 85,858,995 (GRCm39)		probably null	Het
Adcy8	A	T	15: 64,792,320 (GRCm39)	I212N	possibly damaging	Het
Cobll1	T	C	2: 64,928,801 (GRCm39)	T879A	probably damaging	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Dgcr8	A	T	16: 18,098,307 (GRCm39)	N361K	probably benign	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dock8	T	A	19: 25,107,761 (GRCm39)	N830K	probably benign	Het
Ephb1	C	T	9: 102,072,633 (GRCm39)	D49N	probably benign	Het
Fer1l6	A	G	15: 58,443,238 (GRCm39)	I514V	probably benign	Het
Fpr1	A	G	17: 18,097,344 (GRCm39)	I215T	probably benign	Het
Hectd4	G	A	5: 121,491,565 (GRCm39)	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,388 (GRCm39)	I68L	probably benign	Het
Intu	A	G	3: 40,647,402 (GRCm39)		probably null	Het
Mycbp2	A	C	14: 103,393,889 (GRCm39)	S2781A	possibly damaging	Het
Myom2	T	A	8: 15,172,705 (GRCm39)	S1211T	probably benign	Het
Nrp1	A	T	8: 129,194,929 (GRCm39)	I462F	probably benign	Het
Or10d3	T	C	9: 39,461,987 (GRCm39)	Y60C	probably damaging	Het
Or6c5c	T	A	10: 129,299,307 (GRCm39)	I254N	probably damaging	Het
Pcsk1	A	C	13: 75,280,079 (GRCm39)	S635R	probably benign	Het
Pms1	A	T	1: 53,246,861 (GRCm39)	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Sema3b	C	A	9: 107,478,628 (GRCm39)	A356S	probably damaging	Het
Shoc2	C	A	19: 54,018,323 (GRCm39)	T485K	probably benign	Het
Slc7a7	G	A	14: 54,615,292 (GRCm39)	S235L	possibly damaging	Het
Smcr8	A	T	11: 60,674,977 (GRCm39)	T918S	probably benign	Het
Tafa1	G	A	6: 96,626,146 (GRCm39)	R128Q	probably damaging	Het
Tle3	C	A	9: 61,322,133 (GRCm39)	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	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
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'- AGTTTGAGAGACCATCAAGCACAG -3'
(R):5'- TTGTGTCCAGATAGACCAGCC -3'

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

Posted On

2016-11-21