Incidental Mutation 'R2166:Unc119'
| ID |
235501 |
| 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 |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78234321-78239990 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 78238161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002127]
[ENSMUST00000002127]
[ENSMUST00000048073]
[ENSMUST00000100755]
[ENSMUST00000100755]
[ENSMUST00000108295]
[ENSMUST00000108295]
|
| AlphaFold |
Q9Z2R6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002127
|
| SMART Domains |
Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
| 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 null
Transcript: ENSMUST00000002127
|
| SMART Domains |
Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
| 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 null
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 null
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 null
Transcript: ENSMUST00000108295
|
| SMART Domains |
Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108295
|
| SMART Domains |
Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155471
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
| Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
probably damaging |
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 |
|
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 |
|
R7675:Unc119
|
UTSW |
11 |
78,234,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Unc119
|
UTSW |
11 |
78,238,137 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGGGATCATTGGAGCG -3'
(R):5'- AGGGCTCACAAGATGTCCAC -3'
Sequencing Primer
(F):5'- GGTCCCACTGAAACTGAAGTGAC -3'
(R):5'- GATGTCCACCCTGAGAAACAGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation