Incidental Mutation 'R5568:Ulbp1'
ID 437041
Institutional Source Beutler Lab
Gene Symbol Ulbp1
Ensembl Gene ENSMUSG00000079685
Gene Name UL16 binding protein 1
Synonyms A430108B07Rik, MULT1
MMRRC Submission 043125-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5568 (G1)
Quality Score 111
Status Not validated
Chromosome 10
Chromosomal Location 7394873-7423643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 7423281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 21 (S21A)
Ref Sequence ENSEMBL: ENSMUSP00000151680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169796] [ENSMUST00000177585] [ENSMUST00000218087]
AlphaFold Q8HWA3
Predicted Effect unknown
Transcript: ENSMUST00000169796
AA Change: S21A
SMART Domains Protein: ENSMUSP00000128204
Gene: ENSMUSG00000079685
AA Change: S21A

signal peptide 1 25 N/A INTRINSIC
PDB:1KCG|C 31 119 2e-7 PDB
transmembrane domain 124 146 N/A INTRINSIC
internal_repeat_1 148 174 1.72e-7 PROSPERO
internal_repeat_1 193 219 1.72e-7 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000177585
AA Change: S21A
SMART Domains Protein: ENSMUSP00000136637
Gene: ENSMUSG00000079685
AA Change: S21A

signal peptide 1 25 N/A INTRINSIC
PDB:1KCG|C 46 204 7e-10 PDB
transmembrane domain 209 231 N/A INTRINSIC
internal_repeat_1 233 259 5.4e-7 PROSPERO
internal_repeat_1 278 304 5.4e-7 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000218087
AA Change: S21A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218736
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,349,364 (GRCm39) V207A probably benign Het
Abcc10 C A 17: 46,614,834 (GRCm39) probably null Het
Abcc9 A C 6: 142,634,742 (GRCm39) V174G possibly damaging Het
Abl1 C T 2: 31,669,086 (GRCm39) A155V probably damaging Het
Aco2 T A 15: 81,787,787 (GRCm39) D212E probably damaging Het
Adam26b A T 8: 43,973,529 (GRCm39) M491K probably benign Het
Anapc5 G A 5: 122,929,988 (GRCm39) probably benign Het
Atf7 A G 15: 102,471,757 (GRCm39) I46T probably damaging Het
Cacna1b A G 2: 24,497,612 (GRCm39) S2100P probably damaging Het
Capn5 T A 7: 97,775,137 (GRCm39) D501V probably damaging Het
Cc2d2a A G 5: 43,866,433 (GRCm39) M748V probably damaging Het
Cd300c2 T C 11: 114,891,662 (GRCm39) T71A probably damaging Het
Chmp2a T C 7: 12,767,758 (GRCm39) M56V probably benign Het
Cilp A C 9: 65,187,515 (GRCm39) R1203S probably benign Het
Clp1 T A 2: 84,556,322 (GRCm39) K53* probably null Het
Crhbp T A 13: 95,578,737 (GRCm39) D128V probably damaging Het
Crispld1 T A 1: 17,820,495 (GRCm39) I292N probably benign Het
Cyp2c68 A T 19: 39,677,526 (GRCm39) I488N probably benign Het
Cyp3a57 A T 5: 145,307,456 (GRCm39) M149L probably benign Het
Ddx24 T A 12: 103,390,547 (GRCm39) Q59L possibly damaging Het
Ddx27 A G 2: 166,871,439 (GRCm39) H512R possibly damaging Het
Dlgap4 T A 2: 156,604,821 (GRCm39) *993K probably null Het
Dmxl2 A T 9: 54,330,643 (GRCm39) probably null Het
Dus4l A T 12: 31,696,712 (GRCm39) F88L probably damaging Het
Ep400 A T 5: 110,904,071 (GRCm39) V176E probably damaging Het
Fat3 T A 9: 16,288,219 (GRCm39) K435* probably null Het
Fsip2 T C 2: 82,816,908 (GRCm39) C4214R probably benign Het
Garin5a T G 7: 44,150,428 (GRCm39) S207A probably damaging Het
Gfral T C 9: 76,072,087 (GRCm39) *394W probably null Het
Glis1 T C 4: 107,476,832 (GRCm39) S518P probably damaging Het
H2-T10 A G 17: 36,430,079 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,278,679 (GRCm39) T35A possibly damaging Het
Ighv5-12 A G 12: 113,665,837 (GRCm39) F87S probably damaging Het
Ints13 A C 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kbtbd12 C T 6: 88,595,609 (GRCm39) D74N probably damaging Het
Klrb1c A G 6: 128,765,877 (GRCm39) probably benign Het
Kmt5b A T 19: 3,836,538 (GRCm39) H25L probably benign Het
Krt28 A T 11: 99,262,210 (GRCm39) M260K probably damaging Het
Krt79 A G 15: 101,838,220 (GRCm39) S512P probably damaging Het
Lama1 A T 17: 68,075,293 (GRCm39) probably null Het
Maneal T C 4: 124,750,937 (GRCm39) E273G possibly damaging Het
Map4k3 T A 17: 80,971,427 (GRCm39) Y80F possibly damaging Het
Mbd6 A G 10: 127,119,297 (GRCm39) V946A possibly damaging Het
Mfsd14b A T 13: 65,219,936 (GRCm39) probably null Het
Mrpl46 C G 7: 78,430,242 (GRCm39) W176S probably damaging Het
Muc19 A G 15: 91,768,468 (GRCm39) noncoding transcript Het
Mup3 T G 4: 62,002,809 (GRCm39) E184A possibly damaging Het
Myo9a A G 9: 59,781,911 (GRCm39) H1699R probably benign Het
Ndrg2 T A 14: 52,144,420 (GRCm39) T269S probably damaging Het
Nfatc1 A T 18: 80,693,037 (GRCm39) V688D probably benign Het
Ninj2 T C 6: 120,175,670 (GRCm39) I101T probably benign Het
Nlrp10 T A 7: 108,523,468 (GRCm39) M671L probably benign Het
Npsr1 T A 9: 24,224,510 (GRCm39) L296I probably damaging Het
Or10d5 A G 9: 39,861,983 (GRCm39) L28P probably benign Het
Or52r1b G T 7: 102,691,517 (GRCm39) R272L possibly damaging Het
Pacsin1 T A 17: 27,927,022 (GRCm39) D242E probably damaging Het
Pcdh1 T C 18: 38,330,420 (GRCm39) Y861C probably damaging Het
Pcdha12 T C 18: 37,153,443 (GRCm39) L54P probably damaging Het
Pcdhb18 T A 18: 37,624,853 (GRCm39) S728T probably benign Het
Phyhd1 T A 2: 30,167,022 (GRCm39) H108Q probably damaging Het
Plcb1 A T 2: 135,212,513 (GRCm39) I1035F probably damaging Het
Plcl1 T C 1: 55,735,309 (GRCm39) S217P possibly damaging Het
Plppr2 G A 9: 21,852,425 (GRCm39) R103H probably damaging Het
Plxnb2 G A 15: 89,041,638 (GRCm39) T1722I probably damaging Het
Pole3 T C 4: 62,442,668 (GRCm39) N53S probably damaging Het
Ptk6 A T 2: 180,841,488 (GRCm39) N140K possibly damaging Het
Rab12 C T 17: 66,804,418 (GRCm39) R180H probably damaging Het
Rab36 G T 10: 74,888,311 (GRCm39) V252L probably benign Het
Ranbp3 T C 17: 57,008,543 (GRCm39) probably null Het
Rapgef2 A G 3: 79,011,308 (GRCm39) L259P probably damaging Het
Rigi T A 4: 40,222,140 (GRCm39) M380L probably benign Het
Scd2 T C 19: 44,288,142 (GRCm39) F178S probably damaging Het
Shmt2 A G 10: 127,356,250 (GRCm39) S87P probably damaging Het
Slf1 T A 13: 77,194,823 (GRCm39) D834V probably damaging Het
Sorcs2 A C 5: 36,203,874 (GRCm39) Y540* probably null Het
Srpk2 T A 5: 23,730,697 (GRCm39) Q274L possibly damaging Het
Stradb T A 1: 59,031,901 (GRCm39) M271K possibly damaging Het
Tfec T A 6: 16,867,592 (GRCm39) Q16L possibly damaging Het
Tfg T C 16: 56,521,450 (GRCm39) T63A probably benign Het
Ticrr G A 7: 79,339,715 (GRCm39) probably null Het
Ticrr T A 7: 79,345,044 (GRCm39) C1636* probably null Het
Tln2 A G 9: 67,219,147 (GRCm39) I266T probably damaging Het
Tmcc1 G C 6: 115,999,071 (GRCm39) R323G possibly damaging Het
Tnnt3 A G 7: 142,065,777 (GRCm39) E138G probably damaging Het
Tpm2 C A 4: 43,522,692 (GRCm39) E75* probably null Het
Ttn T G 2: 76,580,922 (GRCm39) T23324P probably damaging Het
Ubr4 T G 4: 139,119,349 (GRCm39) L176R probably damaging Het
Uhrf2 G T 19: 30,016,488 (GRCm39) D46Y probably damaging Het
Usp17lb C T 7: 104,490,415 (GRCm39) G170R probably damaging Het
Utp15 T C 13: 98,394,433 (GRCm39) N153S probably benign Het
Vcan T A 13: 89,836,790 (GRCm39) E2918V probably damaging Het
Vmn1r174 T A 7: 23,453,919 (GRCm39) I195K probably damaging Het
Vmn1r76 C T 7: 11,665,062 (GRCm39) V16I probably benign Het
Xdh T C 17: 74,250,880 (GRCm39) D24G possibly damaging Het
Xylb T A 9: 119,190,198 (GRCm39) H68Q probably benign Het
Other mutations in Ulbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1463:Ulbp1 UTSW 10 7,396,557 (GRCm39) splice site probably benign
R2309:Ulbp1 UTSW 10 7,397,388 (GRCm39) missense probably benign 0.03
R4486:Ulbp1 UTSW 10 7,397,397 (GRCm39) missense probably benign 0.03
R4542:Ulbp1 UTSW 10 7,406,570 (GRCm39) missense probably damaging 1.00
R4977:Ulbp1 UTSW 10 7,397,391 (GRCm39) missense probably benign 0.31
R7705:Ulbp1 UTSW 10 7,395,685 (GRCm39) missense unknown
R7943:Ulbp1 UTSW 10 7,407,053 (GRCm39) missense probably damaging 0.98
R9177:Ulbp1 UTSW 10 7,396,392 (GRCm39) missense unknown
R9268:Ulbp1 UTSW 10 7,396,392 (GRCm39) missense unknown
R9495:Ulbp1 UTSW 10 7,406,371 (GRCm39) missense probably benign 0.03
R9502:Ulbp1 UTSW 10 7,423,260 (GRCm39) missense probably benign 0.19
RF009:Ulbp1 UTSW 10 7,397,405 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24