Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Kel'

51348

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

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

41686330-41704339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41702409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 140 (D140G)

Ref Sequence

ENSEMBL: ENSMUSP00000031899 (fasta)

Gene Model

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

AlphaFold

Q9EQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000031899
AA Change: D140G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: D140G

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,755,148		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,574,001		noncoding transcript	Het
Alg3	T	C	16: 20,610,647	E31G	probably damaging	Het
Arhgap29	A	G	3: 122,009,863	E764G	probably damaging	Het
Atp5j2	C	A	5: 145,184,568	V68L	probably benign	Het
Birc6	T	A	17: 74,631,038	I2645K	probably benign	Het
Capn11	A	G	17: 45,639,132	S369P	probably benign	Het
Car4	A	T	11: 84,964,346		probably null	Het
Ccdc185	C	T	1: 182,748,657	V156I	probably benign	Het
Cpsf2	G	T	12: 101,988,706	E245D	probably damaging	Het
Dnah11	T	C	12: 118,050,695	D2019G	probably benign	Het
Dscc1	A	G	15: 55,082,325		probably benign	Het
Dzip3	T	C	16: 48,944,881	D490G	probably benign	Het
E2f8	G	A	7: 48,867,821	Q745*	probably null	Het
Fat3	T	A	9: 15,998,401	T2102S	probably benign	Het
Fgf7	C	T	2: 126,088,232		probably benign	Het
Fstl4	T	C	11: 52,814,637	F47L	probably benign	Het
Gm15097	A	T	X: 149,804,328	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,552,615	D200N	probably benign	Het
Itgb5	G	T	16: 33,919,989	D490Y	probably benign	Het
Kansl1	A	G	11: 104,335,596	S912P	probably benign	Het
Kcnq3	A	T	15: 66,005,977		probably benign	Het
Kctd6	A	G	14: 8,222,656	H166R	possibly damaging	Het
Lrif1	C	A	3: 106,735,664	S177*	probably null	Het
Lrp1	A	T	10: 127,583,853	C962*	probably null	Het
Lypd5	A	T	7: 24,351,551	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,975,944	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,511,710	V244G	probably damaging	Het
Olfr781	T	C	10: 129,332,935	I18T	probably benign	Het
Ptprd	A	T	4: 75,954,201		probably benign	Het
Rcan2	A	T	17: 44,017,884	I69L	probably damaging	Het
Rprd2	A	G	3: 95,776,550	L373P	probably damaging	Het
Slc10a4	T	C	5: 73,007,586	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,627,989	T160I	probably damaging	Het
Tbc1d19	T	A	5: 53,897,062	L464*	probably null	Het
Tmem45a2	C	T	16: 57,040,790	D225N	possibly damaging	Het
Unc79	G	A	12: 103,165,631	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,589,674	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,136,504	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Wdr70	T	C	15: 7,873,174	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,993,247	C555F	possibly 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
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
IGL02037:Kel	APN	6	41697474	missense	probably benign	0.01
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
R9726:Kel	UTSW	6	41702037	missense	probably damaging	1.00
R9769:Kel	UTSW	6	41702056	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

2013-06-21