Incidental Mutation 'R5584:Unc119'
| ID |
438624 |
| 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 |
043138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5584 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78234321-78239990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78239396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 217
(D217G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002127]
[ENSMUST00000100755]
[ENSMUST00000108295]
|
| AlphaFold |
Q9Z2R6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002127
AA Change: D217G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
AA Change: D217G
| 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 damaging
Transcript: ENSMUST00000100755
AA Change: D152G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098318
Gene: ENSMUSG00000002058
AA Change: D152G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GMP_PDE_delta
|
13 |
172 |
1.6e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108295
AA Change: D239G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
AA Change: D239G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,553,386 (GRCm39) |
G5496D |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,293,031 (GRCm39) |
Q262H |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,661,457 (GRCm39) |
T1070A |
possibly damaging |
Het |
| Efcab14 |
T |
C |
4: 115,621,794 (GRCm39) |
V358A |
possibly damaging |
Het |
| Epb41l4a |
G |
T |
18: 33,987,324 (GRCm39) |
T351N |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,406 (GRCm39) |
V237E |
possibly damaging |
Het |
| Ezh2 |
A |
T |
6: 47,508,950 (GRCm39) |
N684K |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,627 (GRCm39) |
T946A |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,229,574 (GRCm39) |
I125N |
probably damaging |
Het |
| Gcsam |
A |
C |
16: 45,440,226 (GRCm39) |
I90L |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,995,341 (GRCm39) |
I87N |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,313,593 (GRCm39) |
N1944K |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,281,632 (GRCm39) |
D3913G |
probably damaging |
Het |
| Ltb4r1 |
T |
A |
14: 56,004,844 (GRCm39) |
M49K |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,382,647 (GRCm39) |
I273T |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,550 (GRCm39) |
S384T |
probably damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,602 (GRCm39) |
I363S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,818 (GRCm39) |
D482E |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,286 (GRCm39) |
Y262C |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,678,366 (GRCm39) |
K284E |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,958,289 (GRCm39) |
N124S |
probably benign |
Het |
| Rbm46 |
C |
A |
3: 82,771,465 (GRCm39) |
M383I |
probably benign |
Het |
| Rfx1 |
G |
A |
8: 84,814,706 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,615,975 (GRCm39) |
V493A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,620,954 (GRCm39) |
V520A |
possibly damaging |
Het |
| Sis |
C |
G |
3: 72,817,748 (GRCm39) |
W1488C |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,469,753 (GRCm39) |
F411S |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,651 (GRCm39) |
N405K |
probably damaging |
Het |
| Thnsl1 |
C |
T |
2: 21,218,223 (GRCm39) |
P138L |
probably damaging |
Het |
| Trim27 |
T |
A |
13: 21,376,719 (GRCm39) |
I489N |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,852,332 (GRCm39) |
V829I |
possibly damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,843,623 (GRCm39) |
T272A |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,965,933 (GRCm39) |
N806I |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,236,218 (GRCm39) |
E164G |
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 |
|
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 |
|
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'- TGGATCACTTTCCTACCCGG -3'
(R):5'- TAGGGATGCTGGACACCTTTC -3'
Sequencing Primer
(F):5'- TTTCCTACCCGGCACCAGG -3'
(R):5'- TTCCTCTCGAGACTGACTCAGGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation