Incidental Mutation 'IGL03398:Xkr4'
ID421319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkr4
Ensembl Gene ENSMUSG00000051951
Gene NameX-linked Kx blood group related 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03398
Quality Score
Status
Chromosome1
Chromosomal Location3205901-3671498 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3216575 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 464 (E464G)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
Predicted Effect probably damaging
Transcript: ENSMUST00000070533
AA Change: E464G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: E464G

DomainStartEndE-ValueType
low complexity region 49 99 N/A INTRINSIC
Pfam:XK-related 111 513 2.6e-128 PFAM
low complexity region 573 586 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162897
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A T 3: 108,461,221 V818D possibly damaging Het
Aasdh T A 5: 76,891,719 I248L probably benign Het
Ackr2 C T 9: 121,908,588 L10F probably damaging Het
Ankhd1 A G 18: 36,656,837 probably benign Het
Arhgap5 A G 12: 52,517,311 E355G probably damaging Het
Arhgef12 A G 9: 42,978,226 V1031A probably damaging Het
Ash1l T A 3: 89,007,220 V1719E probably benign Het
Chd5 A G 4: 152,377,082 N1284D probably damaging Het
Dennd4a A G 9: 64,871,882 D549G probably benign Het
Dhx32 A G 7: 133,759,525 Y60H probably damaging Het
Fcamr A G 1: 130,803,248 I79M probably damaging Het
Filip1 A G 9: 79,818,943 V798A probably benign Het
Gm13119 A G 4: 144,363,491 D367G probably damaging Het
Ifi208 A C 1: 173,683,251 N324T probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nsl1 T C 1: 191,082,164 probably benign Het
Parp6 T C 9: 59,641,053 I483T probably damaging Het
Ppp2r5e A C 12: 75,462,405 W367G possibly damaging Het
Serpini2 G A 3: 75,259,545 T135I probably benign Het
Sgsm1 T A 5: 113,255,316 N955I possibly damaging Het
Tenm2 A G 11: 36,024,543 Y2055H probably damaging Het
Tex2 T C 11: 106,568,272 N111D probably damaging Het
Ttc5 T C 14: 50,781,507 E51G possibly damaging Het
Usp47 A T 7: 112,074,503 E334V probably damaging Het
Wdfy4 T C 14: 33,047,290 K2227E probably benign Het
Other mutations in Xkr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Xkr4 UTSW 1 3670663 missense probably benign 0.00
R0829:Xkr4 UTSW 1 3671246 missense possibly damaging 0.59
R0830:Xkr4 UTSW 1 3670745 missense possibly damaging 0.48
R0959:Xkr4 UTSW 1 3216674 missense probably damaging 1.00
R1242:Xkr4 UTSW 1 3216137 missense probably damaging 1.00
R1257:Xkr4 UTSW 1 3216813 missense probably benign 0.29
R2002:Xkr4 UTSW 1 3671095 missense probably benign
R3896:Xkr4 UTSW 1 3216191 missense probably damaging 0.99
R4006:Xkr4 UTSW 1 3421775 missense probably benign 0.01
R4173:Xkr4 UTSW 1 3216488 missense probably damaging 1.00
R4770:Xkr4 UTSW 1 3216491 missense probably damaging 1.00
R4868:Xkr4 UTSW 1 3216851 missense probably damaging 1.00
R5103:Xkr4 UTSW 1 3670688 missense probably benign
R5548:Xkr4 UTSW 1 3216930 missense probably damaging 1.00
R5602:Xkr4 UTSW 1 3216528 missense probably benign 0.18
R5608:Xkr4 UTSW 1 3671380 start gained probably benign
R5668:Xkr4 UTSW 1 3671035 missense probably damaging 1.00
R5901:Xkr4 UTSW 1 3216678 missense probably damaging 0.99
R6296:Xkr4 UTSW 1 3216570 missense probably benign 0.01
R6302:Xkr4 UTSW 1 3216738 missense probably damaging 0.99
R6326:Xkr4 UTSW 1 3671038 missense possibly damaging 0.75
R6341:Xkr4 UTSW 1 3670778 missense probably benign
R6911:Xkr4 UTSW 1 3671321 missense possibly damaging 0.91
R7086:Xkr4 UTSW 1 3216962 missense probably damaging 1.00
R7249:Xkr4 UTSW 1 3216810 missense probably damaging 1.00
R7571:Xkr4 UTSW 1 3670688 missense probably benign 0.00
R7881:Xkr4 UTSW 1 3216264 missense probably damaging 1.00
R7952:Xkr4 UTSW 1 3670619 missense possibly damaging 0.94
R8332:Xkr4 UTSW 1 3421899 missense probably damaging 1.00
Z1176:Xkr4 UTSW 1 3670981 missense probably damaging 1.00
Z1176:Xkr4 UTSW 1 3670982 missense probably damaging 1.00
Posted On2016-08-02