Incidental Mutation 'R4486:Ulbp1'
ID 331621
Institutional Source Beutler Lab
Gene Symbol Ulbp1
Ensembl Gene ENSMUSG00000079685
Gene Name UL16 binding protein 1
Synonyms A430108B07Rik, MULT1
MMRRC Submission 041742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4486 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 7394873-7423643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7397397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 151 (H151L)
Ref Sequence ENSEMBL: ENSMUSP00000151680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169796] [ENSMUST00000177585] [ENSMUST00000218087]
AlphaFold Q8HWA3
Predicted Effect probably benign
Transcript: ENSMUST00000169796
AA Change: H236L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128204
Gene: ENSMUSG00000079685
AA Change: H236L

DomainStartEndE-ValueType
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: H236L
SMART Domains Protein: ENSMUSP00000136637
Gene: ENSMUSG00000079685
AA Change: H236L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000218087
AA Change: H151L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218736
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 94% (45/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adam22 A T 5: 8,230,227 (GRCm39) probably benign Het
Adamts18 G T 8: 114,439,825 (GRCm39) P923T probably benign Het
Ank3 C T 10: 69,837,804 (GRCm39) T1604I possibly damaging Het
Armc10 A G 5: 21,858,432 (GRCm39) Q159R probably damaging Het
Arnt2 T A 7: 83,924,553 (GRCm39) T425S probably benign Het
B4galt3 A G 1: 171,099,343 (GRCm39) T36A possibly damaging Het
Bbx A G 16: 50,020,777 (GRCm39) V799A probably damaging Het
Bud23 T C 5: 135,092,779 (GRCm39) probably null Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp4f39 T A 17: 32,702,428 (GRCm39) D308E probably damaging Het
Dnah6 A G 6: 73,015,729 (GRCm39) V3584A probably damaging Het
Ecpas A G 4: 58,820,086 (GRCm39) probably benign Het
Frk T C 10: 34,484,377 (GRCm39) I450T probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hyi G A 4: 118,219,674 (GRCm39) G237D probably damaging Het
Jrkl T C 9: 13,245,376 (GRCm39) N95S probably benign Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Nanog T C 6: 122,689,676 (GRCm39) probably null Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Or6c76b T C 10: 129,692,567 (GRCm39) F60S probably damaging Het
Pcdha3 T C 18: 37,080,404 (GRCm39) V382A probably damaging Het
Pla2g4c T A 7: 13,071,676 (GRCm39) N165K probably benign Het
Rexo5 T C 7: 119,424,800 (GRCm39) I362T probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rpusd2 T C 2: 118,865,705 (GRCm39) V134A probably damaging Het
Serpina1c T A 12: 103,863,259 (GRCm39) probably null Het
Slc6a19 A T 13: 73,829,836 (GRCm39) I606N probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Tas2r143 A G 6: 42,377,628 (GRCm39) M153V probably benign Het
Thrb G T 14: 17,925,640 (GRCm38) M1I probably null Het
Trbc2 A G 6: 41,523,814 (GRCm39) probably benign Het
Trim37 T A 11: 87,087,651 (GRCm39) S587R probably benign Het
Vmn2r54 A T 7: 12,366,199 (GRCm39) L245* probably null Het
Vmn2r78 A C 7: 86,569,959 (GRCm39) probably null Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null Het
Xrcc4 A C 13: 90,140,707 (GRCm39) S167R possibly damaging Het
Zfp994 C T 17: 22,420,541 (GRCm39) C136Y probably damaging 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
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
R5568:Ulbp1 UTSW 10 7,423,281 (GRCm39) missense unknown
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
(F):5'- CCTTCTCTGATTGTAGACTTAGGCTG -3'
(R):5'- GGTAAATAGTTCTCACAAAGGAGTTCC -3'

Sequencing Primer
(F):5'- CTCACCTCTAACATTGCTGTGAAGAG -3'
(R):5'- CTTGGTTTACCTAGGGAGAGAATTTG -3'
Posted On 2015-07-21