Incidental Mutation 'R7675:Unc119'
| ID |
592426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc119
|
| Ensembl Gene |
ENSMUSG00000002058 |
| Gene Name |
unc-119 lipid binding chaperone |
| Synonyms |
MRG4, Rtg4, Rg4, UNC119, HRG4, Unc119h |
| MMRRC Submission |
045706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78234321-78239990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78234423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 11
(G11R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002127]
[ENSMUST00000048073]
[ENSMUST00000100755]
[ENSMUST00000108295]
|
| AlphaFold |
Q9Z2R6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002127
AA Change: G11R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: G11R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
54 |
N/A |
INTRINSIC |
|
Pfam:GMP_PDE_delta
|
78 |
237 |
1.6e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048073
|
| SMART Domains |
Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-S
|
22 |
547 |
3.3e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100755
|
| SMART Domains |
Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GMP_PDE_delta
|
13 |
172 |
1.6e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108295
AA Change: G11R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: G11R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
54 |
N/A |
INTRINSIC |
|
Pfam:GMP_PDE_delta
|
80 |
212 |
1.3e-60 |
PFAM |
|
Pfam:GMP_PDE_delta
|
218 |
258 |
1.5e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.0754 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (28/29) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is multifunctional, affecting trafficking of transducin in rod photoreceptors, interacting with src-type tyrosine kinases through SH2 and SH3 interacting domains, and aiding the uptake of bacteria through endocytosis. In addition, the encoded protein acts as a lipid-binding chaperone to help localize some myristoylated proteins correctly. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
| Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
| Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
| Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
| Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
| Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
| Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
| Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
| Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
| Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
| Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
| Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
probably null |
Het |
|
| Other mutations in Unc119 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Unc119
|
APN |
11 |
78,239,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01317:Unc119
|
APN |
11 |
78,238,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03164:Unc119
|
APN |
11 |
78,239,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2166:Unc119
|
UTSW |
11 |
78,238,161 (GRCm39) |
splice site |
probably null |
|
|
R4298:Unc119
|
UTSW |
11 |
78,238,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5584:Unc119
|
UTSW |
11 |
78,239,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Unc119
|
UTSW |
11 |
78,238,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Unc119
|
UTSW |
11 |
78,239,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7322:Unc119
|
UTSW |
11 |
78,239,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7401:Unc119
|
UTSW |
11 |
78,238,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8700:Unc119
|
UTSW |
11 |
78,238,137 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGACCTGGGCTGAAGTC -3'
(R):5'- AGAGATTTCAGGCTTGGAGGC -3'
Sequencing Primer
(F):5'- GAGAGGTATTCGGTAACTACATTGTC -3'
(R):5'- TGGACTCTGAGCCTCGTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation