Incidental Mutation 'R2309:Ulbp1'
| ID |
244710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulbp1
|
| Ensembl Gene |
ENSMUSG00000079685 |
| Gene Name |
UL16 binding protein 1 |
| Synonyms |
A430108B07Rik, MULT1 |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R2309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
7394873-7423643 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7397388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 239
(T239I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169796]
[ENSMUST00000177585]
[ENSMUST00000218087]
|
| AlphaFold |
Q8HWA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169796
AA Change: T239I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128204
Gene: ENSMUSG00000079685
AA Change: T239I
| Domain | Start | End | E-Value | Type |
|---|
|
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: T239I
|
| SMART Domains |
Protein: ENSMUSP00000136637
Gene: ENSMUSG00000079685
AA Change: T239I
| Domain | Start | End | E-Value | Type |
|---|
|
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: T154I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218736
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,073,783 (GRCm39) |
C224F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
| Cldn24 |
T |
G |
8: 48,275,774 (GRCm39) |
Y199* |
probably null |
Het |
| Il1rl1 |
A |
G |
1: 40,481,817 (GRCm39) |
D175G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,118,445 (GRCm39) |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,166,997 (GRCm39) |
S87P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
| Vmn1r230 |
A |
G |
17: 21,067,492 (GRCm39) |
H227R |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
| Other mutations in Ulbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1463:Ulbp1
|
UTSW |
10 |
7,396,557 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- CAATACTCACCTCTAACATTGCTG -3'
(R):5'- CAGGGTTTGGTAAATAGTTCTCAC -3'
Sequencing Primer
(F):5'- CTCACCTCTAACATTGCTGTGAAGAG -3'
(R):5'- GGTTTGGTAAATAGTTCTCACAAAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation