Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:Kel'

184540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kel

Ensembl Gene

ENSMUSG00000029866

Gene Name

Kell blood group

Synonyms

CD238

Accession Numbers

Genbank: NM_032540; MGI: 1346053

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02037

Quality Score

Status

Chromosome

Chromosomal Location

41686330-41704339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41697474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 341 (S341G)

Ref Sequence

ENSEMBL: ENSMUSP00000031899 (fasta)

Gene Model

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

AlphaFold

Q9EQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000031899
AA Change: S341G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: S341G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192406

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	A	6: 92,828,016		probably benign	Het
Ace2	T	A	X: 164,164,000	V293D	probably damaging	Het
Adgrg6	T	C	10: 14,441,441	Y545C	probably damaging	Het
Arhgap40	A	G	2: 158,534,822	T293A	probably damaging	Het
Arhgef19	A	G	4: 141,246,396	T65A	probably damaging	Het
Brf1	A	G	12: 112,993,062		probably null	Het
Cbfb	T	C	8: 105,178,620	S65P	possibly damaging	Het
Chsy1	T	C	7: 66,171,828	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,361,162	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Csmd2	T	C	4: 128,477,470		probably benign	Het
D430041D05Rik	A	G	2: 104,208,214		probably benign	Het
Dsg1c	A	G	18: 20,276,950	T492A	probably benign	Het
Fam160a1	T	G	3: 85,730,632	K120T	probably damaging	Het
Fam3a	G	A	X: 74,386,635	T156I	probably damaging	Het
Fbn2	A	T	18: 58,096,015	C708S	probably damaging	Het
Fgf5	G	A	5: 98,261,972	G127R	probably damaging	Het
Fn3k	A	T	11: 121,435,083	Y32F	probably benign	Het
Frem3	T	C	8: 80,611,489	I137T	probably benign	Het
Hc	T	C	2: 35,013,519	D1041G	probably benign	Het
Heatr6	T	A	11: 83,764,882		probably benign	Het
Hivep1	G	A	13: 42,156,077	A598T	probably benign	Het
Ifngr1	T	C	10: 19,607,259	S254P	probably benign	Het
Klra6	A	C	6: 130,013,476	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,136,748		probably null	Het
Mpeg1	C	T	19: 12,463,296	T706I	probably benign	Het
Mrpl41	T	C	2: 24,974,417	D81G	possibly damaging	Het
Olfr1043	G	T	2: 86,162,837	F37L	probably benign	Het
Palld	T	C	8: 61,525,114	R881G	probably damaging	Het
Pdha2	A	T	3: 141,210,901	V282E	probably damaging	Het
Pga5	C	T	19: 10,676,701	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,368,697	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,731,653	T527A	probably benign	Het
Rplp0	G	A	5: 115,561,115	R73Q	probably benign	Het
Smco3	A	G	6: 136,831,199	*226R	probably null	Het
Sugp2	T	C	8: 70,259,674		probably benign	Het
Tsga10	T	C	1: 37,807,017	I343V	probably benign	Het
Ube2q2	A	G	9: 55,168,218	K104E	probably damaging	Het
Ube3a	C	T	7: 59,275,758		probably benign	Het
Usp11	T	C	X: 20,719,142	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,649,067	C137S	probably damaging	Het
Zfp281	T	C	1: 136,627,447	V721A	possibly damaging	Het
Zfp946	T	C	17: 22,453,488	S23P	probably damaging	Het
Zfyve1	A	G	12: 83,547,920	V766A	probably damaging	Het

Other mutations in Kel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Kel	APN	6	41688575	missense	probably damaging	1.00
IGL00792:Kel	APN	6	41702012	missense	probably damaging	1.00
IGL00972:Kel	APN	6	41688066	missense	possibly damaging	0.62
IGL01121:Kel	APN	6	41702409	missense	probably benign	0.00
IGL01286:Kel	APN	6	41688117	splice site	probably null
IGL01461:Kel	APN	6	41701911	critical splice donor site	probably null
IGL01836:Kel	APN	6	41697438	missense	possibly damaging	0.50
IGL02103:Kel	APN	6	41702389	missense	probably benign	0.18
IGL02604:Kel	APN	6	41687582	missense	probably damaging	0.98
IGL03102:Kel	APN	6	41702983	missense	probably benign	0.00
IGL03274:Kel	APN	6	41687995	splice site	probably null
IGL03355:Kel	APN	6	41698887	critical splice donor site	probably null
A4554:Kel	UTSW	6	41697419	missense	possibly damaging	0.95
R0121:Kel	UTSW	6	41702064	unclassified	probably benign
R0153:Kel	UTSW	6	41701943	missense	probably benign	0.08
R0535:Kel	UTSW	6	41690838	missense	probably null	0.21
R0658:Kel	UTSW	6	41703031	missense	probably damaging	1.00
R1005:Kel	UTSW	6	41688617	missense	probably damaging	1.00
R1199:Kel	UTSW	6	41688591	missense	possibly damaging	0.95
R1272:Kel	UTSW	6	41703470	missense	probably benign	0.00
R1531:Kel	UTSW	6	41688626	missense	probably damaging	0.99
R1880:Kel	UTSW	6	41687545	missense	possibly damaging	0.95
R2102:Kel	UTSW	6	41686484	missense	possibly damaging	0.86
R2118:Kel	UTSW	6	41689300	missense	probably benign
R2571:Kel	UTSW	6	41688067	missense	possibly damaging	0.62
R4209:Kel	UTSW	6	41698425	nonsense	probably null
R4210:Kel	UTSW	6	41698425	nonsense	probably null
R4260:Kel	UTSW	6	41686423	utr 3 prime	probably benign
R4382:Kel	UTSW	6	41698400	missense	probably benign	0.13
R5023:Kel	UTSW	6	41688111	missense	probably damaging	1.00
R5033:Kel	UTSW	6	41699055	missense	probably damaging	1.00
R5239:Kel	UTSW	6	41688114	nonsense	probably null
R5431:Kel	UTSW	6	41698420	missense	probably benign	0.23
R5742:Kel	UTSW	6	41699027	missense	probably damaging	1.00
R5745:Kel	UTSW	6	41699027	missense	probably damaging	1.00
R5746:Kel	UTSW	6	41699027	missense	probably damaging	1.00
R5978:Kel	UTSW	6	41688045	missense	probably benign	0.00
R6023:Kel	UTSW	6	41697475	missense	probably benign
R6109:Kel	UTSW	6	41688862	missense	probably benign	0.06
R6125:Kel	UTSW	6	41690786	missense	probably damaging	1.00
R6319:Kel	UTSW	6	41702447	missense	probably benign	0.05
R6368:Kel	UTSW	6	41688851	nonsense	probably null
R6864:Kel	UTSW	6	41703760	critical splice donor site	probably null
R6956:Kel	UTSW	6	41687973	missense	probably damaging	1.00
R7644:Kel	UTSW	6	41690808	missense	probably benign	0.03
R7938:Kel	UTSW	6	41698376	missense	probably benign	0.06
R8028:Kel	UTSW	6	41699024	missense	probably benign	0.21
R8082:Kel	UTSW	6	41703490	missense	possibly damaging	0.94
R8465:Kel	UTSW	6	41689538	critical splice donor site	probably null
R9158:Kel	UTSW	6	41687971	missense	probably benign	0.10
R9518:Kel	UTSW	6	41702400	missense	probably damaging	1.00
X0028:Kel	UTSW	6	41698351	missense	probably damaging	0.99
Z1176:Kel	UTSW	6	41687572	missense	probably damaging	1.00
Z1177:Kel	UTSW	6	41689559	missense	probably benign

Posted On

2014-05-07