Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Kel'

389360

Institutional Source

Beutler Lab

Gene Symbol

Kel

Ensembl Gene

ENSMUSG00000029866

Gene Name

Kell blood group

Synonyms

CD238

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5033 (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 41675989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 234 (Y234N)

Ref Sequence

ENSEMBL: ENSMUSP00000031899 (fasta)

Gene Model

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

AlphaFold

Q9EQF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031899
AA Change: Y234N

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

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866
AA Change: Y234N

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: Y9N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192406

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,838,533 (GRCm39)	R685W	probably damaging	Het
Arhgap10	A	T	8: 78,109,386 (GRCm39)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,488,859 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,728,132 (GRCm39)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,458,044 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,105,838 (GRCm39)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,409,559 (GRCm39)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 179,892,580 (GRCm39)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,733,282 (GRCm39)		probably benign	Het
Cfap46	C	A	7: 139,183,776 (GRCm39)	L90F	probably benign	Het
Cndp2	A	G	18: 84,688,954 (GRCm39)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Daam1	C	A	12: 71,993,294 (GRCm39)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,824 (GRCm39)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,132,745 (GRCm39)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,477,544 (GRCm39)	H179R	probably damaging	Het
Dym	A	G	18: 75,252,232 (GRCm39)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 116,909,933 (GRCm39)	D156G	probably damaging	Het
Emc1	A	G	4: 139,099,007 (GRCm39)	D830G	probably damaging	Het
F13a1	A	C	13: 37,172,830 (GRCm39)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,277,043 (GRCm39)		probably benign	Het
Fdft1	C	A	14: 63,400,853 (GRCm39)	K93N	probably damaging	Het
Garre1	C	T	7: 33,945,237 (GRCm39)	G336S	probably benign	Het
Gcc2	A	G	10: 58,114,628 (GRCm39)	D959G	probably damaging	Het
Gp2	A	G	7: 119,053,514 (GRCm39)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,423,906 (GRCm39)	C587S	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,050,125 (GRCm39)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,332,684 (GRCm39)	C121W	probably damaging	Het
Inhca	A	G	9: 103,156,613 (GRCm39)	V149A	probably benign	Het
Jazf1	A	G	6: 52,754,525 (GRCm39)	Y184H	probably damaging	Het
Khk	G	A	5: 31,087,004 (GRCm39)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm39)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,519,706 (GRCm39)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,626,044 (GRCm39)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,347,841 (GRCm39)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,115,408 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lrrc2	A	T	9: 110,809,987 (GRCm39)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,046,662 (GRCm39)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,934,491 (GRCm39)		probably null	Het
Or10ag60	T	A	2: 87,438,055 (GRCm39)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,880,619 (GRCm39)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,235,779 (GRCm39)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,210,740 (GRCm39)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm39)	W969R	probably null	Het
Pigr	A	T	1: 130,772,436 (GRCm39)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 44,804,278 (GRCm39)		probably benign	Het
Pik3cg	A	T	12: 32,249,195 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,424,294 (GRCm39)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,141,084 (GRCm39)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,659,042 (GRCm39)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,552,449 (GRCm39)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,333,071 (GRCm39)	Q213*	probably null	Het
Prpf6	T	A	2: 181,291,899 (GRCm39)	C739S	possibly damaging	Het
Psmc3	T	A	2: 90,884,953 (GRCm39)	S40T	probably benign	Het
Psmd3	A	T	11: 98,573,650 (GRCm39)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,582,207 (GRCm39)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,397,666 (GRCm39)	S328A	probably benign	Het
Ros1	C	T	10: 52,004,512 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,602,140 (GRCm39)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,415,464 (GRCm39)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,309,661 (GRCm39)	V664A	probably benign	Het
Selenoo	T	A	15: 88,976,969 (GRCm39)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,147,962 (GRCm39)		probably null	Het
Slc28a2b	T	A	2: 122,353,395 (GRCm39)		probably null	Het
Slco2b1	G	T	7: 99,309,256 (GRCm39)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,077,623 (GRCm39)	D137V	probably damaging	Het
Srrm2	G	A	17: 24,039,592 (GRCm39)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,523,880 (GRCm39)	C692S	probably benign	Het
Sulf2	T	A	2: 165,923,542 (GRCm39)	D559V	probably benign	Het
Tbpl2	T	C	2: 23,977,170 (GRCm39)	I283V	probably benign	Het
Tmem19	A	G	10: 115,195,666 (GRCm39)	F46S	probably benign	Het
Trp63	T	A	16: 25,582,056 (GRCm39)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,716,786 (GRCm39)		probably benign	Het
Ube2z	A	T	11: 95,941,148 (GRCm39)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,742,478 (GRCm39)		probably null	Het
Vmn1r235	A	T	17: 21,482,550 (GRCm39)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,501 (GRCm39)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,167,220 (GRCm39)	V637A	probably benign	Het
Xpnpep1	C	A	19: 52,994,606 (GRCm39)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,084,759 (GRCm39)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,684,502 (GRCm39)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,479,921 (GRCm39)	S857P	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
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'- AGTTTGAGAGACCATCAAGCAC -3'
(R):5'- TTGTGTCCAGATAGACCAGCC -3'

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

Posted On

2016-06-06