Incidental Mutation 'R7705:Ulbp1'
ID 594245
Institutional Source Beutler Lab
Gene Symbol Ulbp1
Ensembl Gene ENSMUSG00000079685
Gene Name UL16 binding protein 1
Synonyms A430108B07Rik, MULT1
MMRRC Submission 045766-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7705 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 7394873-7423643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7395685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 291 (S291P)
Ref Sequence ENSEMBL: ENSMUSP00000136637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169796] [ENSMUST00000177585] [ENSMUST00000218087]
AlphaFold Q8HWA3
Predicted Effect probably benign
Transcript: ENSMUST00000169796
SMART Domains Protein: ENSMUSP00000128204
Gene: ENSMUSG00000079685

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: S291P
SMART Domains Protein: ENSMUSP00000136637
Gene: ENSMUSG00000079685
AA Change: S291P

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 unknown
Transcript: ENSMUST00000218087
AA Change: S206P
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 G A 3: 59,784,168 (GRCm39) A214T probably benign Het
Abcb9 G T 5: 124,220,018 (GRCm39) Y342* probably null Het
Acad9 C T 3: 36,142,675 (GRCm39) T470M probably benign Het
Ankmy2 A G 12: 36,245,107 (GRCm39) E379G probably benign Het
Cand1 A G 10: 119,048,343 (GRCm39) probably null Het
Ccdc171 A G 4: 83,476,193 (GRCm39) T203A possibly damaging Het
Cpeb4 A G 11: 31,822,327 (GRCm39) T14A probably damaging Het
Cplane1 T G 15: 8,211,736 (GRCm39) F359V probably damaging Het
Crtap A T 9: 114,210,747 (GRCm39) C276S probably damaging Het
Csf2rb2 T C 15: 78,168,774 (GRCm39) I794V probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T A 5: 122,007,736 (GRCm39) M642L probably benign Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Dytn A G 1: 63,717,948 (GRCm39) L29P probably damaging Het
E2f3 G A 13: 30,169,306 (GRCm39) R116C probably benign Het
Edc3 T C 9: 57,647,197 (GRCm39) V282A probably benign Het
Epha1 A G 6: 42,339,602 (GRCm39) V630A probably damaging Het
Erc1 A G 6: 119,801,564 (GRCm39) I151T probably benign Het
Fam83h C T 15: 75,875,699 (GRCm39) R546H probably damaging Het
Fbxl14 A T 6: 119,457,742 (GRCm39) K308* probably null Het
Fbxw24 A T 9: 109,437,516 (GRCm39) probably null Het
Gldn T A 9: 54,245,976 (GRCm39) M509K probably benign Het
Gpr139 T C 7: 118,743,866 (GRCm39) I240V probably benign Het
Herc1 G T 9: 66,347,116 (GRCm39) M1990I possibly damaging Het
Hmgcr A G 13: 96,793,231 (GRCm39) I467T probably benign Het
Isl2 T C 9: 55,449,685 (GRCm39) F85L probably benign Het
Lat T C 7: 125,963,612 (GRCm39) N197D probably damaging Het
Marchf1 T C 8: 66,921,169 (GRCm39) V282A probably benign Het
Meiosin T A 7: 18,835,044 (GRCm39) D393V unknown Het
Mrpl9 A G 3: 94,351,075 (GRCm39) H85R possibly damaging Het
Mterf2 G T 10: 84,956,381 (GRCm39) A81E probably damaging Het
Mtr A G 13: 12,264,782 (GRCm39) C107R probably benign Het
Nlrp4c T A 7: 6,075,635 (GRCm39) V642E probably damaging Het
Or5b12b A G 19: 12,861,871 (GRCm39) I209V probably benign Het
Or6c212 T A 10: 129,559,018 (GRCm39) I132F probably benign Het
Pdik1l A G 4: 134,006,804 (GRCm39) S112P unknown Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Rest T A 5: 77,416,119 (GRCm39) L111Q probably damaging Het
Slc28a2b A C 2: 122,352,110 (GRCm39) probably null Het
Spg7 A C 8: 123,800,617 (GRCm39) D169A possibly damaging Het
Syt3 T C 7: 44,042,083 (GRCm39) V314A possibly damaging Het
Tbc1d20 G C 2: 152,150,004 (GRCm39) G144R probably damaging Het
Tlk1 A T 2: 70,617,016 (GRCm39) probably null Het
Tmem147 T G 7: 30,427,716 (GRCm39) probably null Het
Trip12 A T 1: 84,755,170 (GRCm39) D401E probably damaging Het
Usp19 A G 9: 108,379,112 (GRCm39) D1286G possibly damaging Het
Usp49 T C 17: 47,989,873 (GRCm39) F553L probably damaging Het
Zfp352 A G 4: 90,113,512 (GRCm39) T551A possibly 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
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
R5568:Ulbp1 UTSW 10 7,423,281 (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'- GCTTGATCTCCACAGCACTATC -3'
(R):5'- ACTAGAGCTTACAGTGGTTGAAAG -3'

Sequencing Primer
(F):5'- ACAGCCTAGTGCACTCTGATG -3'
(R):5'- AACCGAGTTCTGTGGTCT -3'
Posted On 2019-11-12