Incidental Mutation 'R6699:Rnf39'
| ID |
528702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf39
|
| Ensembl Gene |
ENSMUSG00000036492 |
| Gene Name |
ring finger protein 39 |
| Synonyms |
LIRF, LOC386454, LOC386465, LOC240094 |
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
130.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37253943-37258878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37258121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 96
(W96R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040402]
[ENSMUST00000040498]
[ENSMUST00000173072]
[ENSMUST00000173540]
[ENSMUST00000174669]
[ENSMUST00000174711]
|
| AlphaFold |
A2RT81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040402
|
| SMART Domains |
Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPI_Ypi1
|
22 |
87 |
8.7e-26 |
PFAM |
|
low complexity region
|
105 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040498
AA Change: W218R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037860
Gene: ENSMUSG00000036492
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
66 |
3.47e-4 |
SMART |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
PRY
|
159 |
212 |
6.23e-15 |
SMART |
|
Blast:SPRY
|
213 |
349 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173072
|
| SMART Domains |
Protein: ENSMUSP00000133710
Gene: ENSMUSG00000036492
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
66 |
3.47e-4 |
SMART |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173540
|
| SMART Domains |
Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPI_Ypi1
|
5 |
77 |
2e-24 |
PFAM |
|
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174669
AA Change: W96R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492
AA Change: W96R
| Domain | Start | End | E-Value | Type |
|---|
|
PRY
|
37 |
90 |
6.23e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174711
|
| SMART Domains |
Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPI_Ypi1
|
22 |
87 |
8.7e-26 |
PFAM |
|
low complexity region
|
105 |
128 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8536 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rnf39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01773:Rnf39
|
APN |
17 |
37,256,328 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02852:Rnf39
|
APN |
17 |
37,256,094 (GRCm39) |
unclassified |
probably benign |
|
|
R3771:Rnf39
|
UTSW |
17 |
37,258,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Rnf39
|
UTSW |
17 |
37,254,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Rnf39
|
UTSW |
17 |
37,256,426 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5294:Rnf39
|
UTSW |
17 |
37,258,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Rnf39
|
UTSW |
17 |
37,254,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Rnf39
|
UTSW |
17 |
37,257,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7436:Rnf39
|
UTSW |
17 |
37,254,241 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7536:Rnf39
|
UTSW |
17 |
37,254,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Rnf39
|
UTSW |
17 |
37,258,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8164:Rnf39
|
UTSW |
17 |
37,254,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:Rnf39
|
UTSW |
17 |
37,254,158 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTACCATGTGTTGTTCCC -3'
(R):5'- GTCATAGAAGGCCACACGAC -3'
Sequencing Primer
(F):5'- TTCTGCAGCTGACCTGACG -3'
(R):5'- GTCCAAGTCCACGCGAATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation