Incidental Mutation 'R8823:Xkr9'
ID 673254
Institutional Source Beutler Lab
Gene Symbol Xkr9
Ensembl Gene ENSMUSG00000067813
Gene Name X-linked Kx blood group related 9
Synonyms LOC381246
MMRRC Submission 068656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8823 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 13738995-13771947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13742832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
Ref Sequence ENSEMBL: ENSMUSP00000085900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088542]
AlphaFold Q5GH62
Predicted Effect probably benign
Transcript: ENSMUST00000088542
AA Change: V39A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: V39A

DomainStartEndE-ValueType
Pfam:XK-related 9 346 2.8e-87 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 T A 8: 41,133,228 (GRCm39) I232K probably benign Het
Ap5z1 T C 5: 142,460,191 (GRCm39) L506P probably benign Het
Atg5lrt A T 10: 95,972,633 (GRCm39) I57F possibly damaging Het
Ceacam20 A T 7: 19,705,429 (GRCm39) Y140F probably damaging Het
Chfr G A 5: 110,300,258 (GRCm39) R334H probably damaging Het
Emx2 A G 19: 59,447,880 (GRCm39) H78R probably damaging Het
Etnppl G A 3: 130,420,195 (GRCm39) G204R probably damaging Het
Fah A G 7: 84,254,925 (GRCm39) F3L possibly damaging Het
Galnt12 G T 4: 47,091,928 (GRCm39) probably benign Het
Gbx1 A G 5: 24,710,051 (GRCm39) S265P probably damaging Het
Gm17087 A G 17: 8,785,233 (GRCm39) *157R probably null Het
Grin2a T A 16: 9,487,758 (GRCm39) N380I possibly damaging Het
Grip1 C T 10: 119,811,856 (GRCm39) T269I Het
Hace1 T C 10: 45,524,956 (GRCm39) Y241H probably damaging Het
Hrc A G 7: 44,985,722 (GRCm39) D291G possibly damaging Het
Ifi208 A G 1: 173,511,102 (GRCm39) Y419C probably damaging Het
Ighv8-5 A G 12: 115,031,267 (GRCm39) S91P probably damaging Het
Igkv15-103 T C 6: 68,414,855 (GRCm39) L98P probably damaging Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Ipo9 A G 1: 135,347,077 (GRCm39) W138R probably damaging Het
Kank4 A T 4: 98,668,240 (GRCm39) L69Q probably damaging Het
Kcnd3 T C 3: 105,574,330 (GRCm39) I505T probably benign Het
Lrtm2 T A 6: 119,294,193 (GRCm39) I313F probably damaging Het
Mug2 A T 6: 122,040,648 (GRCm39) I733F possibly damaging Het
Myh2 A T 11: 67,076,300 (GRCm39) R800S probably damaging Het
Myo1d A T 11: 80,492,571 (GRCm39) I728N possibly damaging Het
Or10a3n A G 7: 108,493,155 (GRCm39) I158T probably benign Het
Pdcd1 T C 1: 93,969,220 (GRCm39) R33G probably benign Het
Polr1b T C 2: 128,967,457 (GRCm39) F950S probably damaging Het
Prpf8 T A 11: 75,384,282 (GRCm39) M697K probably benign Het
Psmc2 T A 5: 22,005,574 (GRCm39) D218E probably damaging Het
Ptpn12 A G 5: 21,203,621 (GRCm39) Y386H probably damaging Het
Rilpl2 C T 5: 124,606,716 (GRCm39) R166K possibly damaging Het
Rtn4 T A 11: 29,656,609 (GRCm39) N254K probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sesn3 T A 9: 14,221,536 (GRCm39) probably benign Het
Slc35b2 T A 17: 45,877,894 (GRCm39) H291Q probably damaging Het
Slc38a3 A C 9: 107,533,150 (GRCm39) Y308D probably damaging Het
Snrpd2 T C 7: 18,886,535 (GRCm39) V106A probably benign Het
Sybu C A 15: 44,540,998 (GRCm39) A355S possibly damaging Het
Tes3-ps A T 13: 49,647,692 (GRCm39) R189S probably benign Het
Trmo T C 4: 46,382,604 (GRCm39) D164G probably damaging Het
Vmn1r225 A G 17: 20,722,823 (GRCm39) Q88R probably benign Het
Xpo1 A T 11: 23,217,752 (GRCm39) M73L probably benign Het
Zbtb21 G A 16: 97,752,516 (GRCm39) T589I probably damaging Het
Zbtb41 A G 1: 139,350,892 (GRCm39) K2E probably damaging Het
Zfp105 A G 9: 122,759,568 (GRCm39) K413R possibly damaging Het
Other mutations in Xkr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Xkr9 APN 1 13,771,203 (GRCm39) missense probably benign 0.00
IGL02090:Xkr9 APN 1 13,771,600 (GRCm39) missense probably damaging 1.00
IGL02405:Xkr9 APN 1 13,742,997 (GRCm39) splice site probably benign
IGL02523:Xkr9 APN 1 13,754,474 (GRCm39) missense probably benign 0.01
IGL02792:Xkr9 APN 1 13,771,027 (GRCm39) missense probably damaging 1.00
IGL02820:Xkr9 APN 1 13,771,173 (GRCm39) missense probably benign
IGL02821:Xkr9 APN 1 13,742,799 (GRCm39) missense probably damaging 1.00
IGL03170:Xkr9 APN 1 13,771,036 (GRCm39) missense possibly damaging 0.72
IGL03222:Xkr9 APN 1 13,771,505 (GRCm39) nonsense probably null
R0044:Xkr9 UTSW 1 13,754,286 (GRCm39) nonsense probably null
R0044:Xkr9 UTSW 1 13,754,286 (GRCm39) nonsense probably null
R0595:Xkr9 UTSW 1 13,771,008 (GRCm39) missense probably benign 0.02
R1337:Xkr9 UTSW 1 13,771,348 (GRCm39) missense possibly damaging 0.94
R1670:Xkr9 UTSW 1 13,771,167 (GRCm39) missense probably damaging 0.97
R5007:Xkr9 UTSW 1 13,771,387 (GRCm39) missense probably damaging 0.98
R6133:Xkr9 UTSW 1 13,754,359 (GRCm39) missense probably benign 0.01
R6302:Xkr9 UTSW 1 13,742,726 (GRCm39) missense probably damaging 1.00
R8153:Xkr9 UTSW 1 13,754,363 (GRCm39) missense probably benign 0.10
R8440:Xkr9 UTSW 1 13,771,603 (GRCm39) missense probably benign 0.31
R8520:Xkr9 UTSW 1 13,771,603 (GRCm39) missense probably benign 0.31
R8985:Xkr9 UTSW 1 13,770,990 (GRCm39) missense probably benign
R9084:Xkr9 UTSW 1 13,742,733 (GRCm39) missense probably benign 0.15
R9441:Xkr9 UTSW 1 13,771,587 (GRCm39) missense possibly damaging 0.94
R9658:Xkr9 UTSW 1 13,771,318 (GRCm39) missense probably damaging 1.00
X0025:Xkr9 UTSW 1 13,742,858 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- ACTAGTATCCATTGTGGCATTTTCC -3'
(R):5'- ACCTTCTGCTTGGATAAAATGGC -3'

Sequencing Primer
(F):5'- CCCCTATTTTTGTATCTGAAAAGGAG -3'
(R):5'- CTTGGATAAAATGGCGGTGC -3'
Posted On 2021-07-15