Incidental Mutation 'R9636:Rnf180'
| ID |
725805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf180
|
| Ensembl Gene |
ENSMUSG00000021720 |
| Gene Name |
ring finger protein 180 |
| Synonyms |
3110001E11Rik, Rines |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
105267075-105431406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105386819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 164
(H164L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069686]
[ENSMUST00000224011]
[ENSMUST00000224662]
[ENSMUST00000224749]
[ENSMUST00000226044]
|
| AlphaFold |
Q3U827 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069686
AA Change: H164L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000064624
Gene: ENSMUSG00000021720
AA Change: H164L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
395 |
N/A |
INTRINSIC |
|
RING
|
432 |
473 |
1.65e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224011
AA Change: H164L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224662
AA Change: H164L
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224749
AA Change: H163L
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226044
AA Change: H163L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Knock-out mice show impaired stress responses, enhanced anxiety, and affiliative behavior. Norepinephrine and serotonin levels are decreased in the locus ceruleus, prefrontal cortex, and amygdala and MAO-A enzyme activity is enhanced in the locus ceruleus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,068,312 (GRCm39) |
I48M |
probably benign |
Het |
| Arnt2 |
T |
G |
7: 83,993,042 (GRCm39) |
E177A |
probably benign |
Het |
| Atad3a |
T |
C |
4: 155,833,616 (GRCm39) |
T421A |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,057,655 (GRCm39) |
L222P |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,394,580 (GRCm39) |
H304R |
possibly damaging |
Het |
| Ces1a |
T |
C |
8: 93,759,263 (GRCm39) |
E291G |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,688,406 (GRCm39) |
W390* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,820,563 (GRCm39) |
Q5432L |
possibly damaging |
Het |
| Gm12830 |
T |
C |
4: 114,698,859 (GRCm39) |
S73P |
|
Het |
| Hyal5 |
A |
G |
6: 24,876,656 (GRCm39) |
I176M |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,733 (GRCm39) |
I90T |
possibly damaging |
Het |
| Klhl3 |
T |
C |
13: 58,198,863 (GRCm39) |
T259A |
probably damaging |
Het |
| Kpna3 |
A |
G |
14: 61,624,903 (GRCm39) |
S147P |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,956,500 (GRCm39) |
D1141G |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,083,719 (GRCm39) |
I171V |
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,706,611 (GRCm39) |
Q602L |
possibly damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,395,786 (GRCm39) |
M1K |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,564,688 (GRCm39) |
V18A |
unknown |
Het |
| Prkdc |
G |
A |
16: 15,548,341 (GRCm39) |
R1983H |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,994 (GRCm39) |
R695G |
probably benign |
Het |
| Rbbp6 |
AAAGAAGAAGAAGAAGAAG |
AAAGAAGAAGAAGAAG |
7: 122,601,175 (GRCm39) |
|
probably benign |
Het |
| Riok1 |
T |
C |
13: 38,242,719 (GRCm39) |
|
probably null |
Het |
| Slc2a3 |
A |
G |
6: 122,709,362 (GRCm39) |
S346P |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,594,088 (GRCm39) |
D1426V |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,332,505 (GRCm39) |
N54D |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,388 (GRCm39) |
V197A |
possibly damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,047,899 (GRCm39) |
R1802L |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,456 (GRCm39) |
R1380G |
probably benign |
Het |
|
| Other mutations in Rnf180 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Rnf180
|
APN |
13 |
105,386,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0270:Rnf180
|
UTSW |
13 |
105,388,774 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1660:Rnf180
|
UTSW |
13 |
105,407,499 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3881:Rnf180
|
UTSW |
13 |
105,386,915 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6007:Rnf180
|
UTSW |
13 |
105,317,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6740:Rnf180
|
UTSW |
13 |
105,318,014 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6824:Rnf180
|
UTSW |
13 |
105,318,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Rnf180
|
UTSW |
13 |
105,407,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7655:Rnf180
|
UTSW |
13 |
105,304,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Rnf180
|
UTSW |
13 |
105,304,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Rnf180
|
UTSW |
13 |
105,318,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Rnf180
|
UTSW |
13 |
105,318,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Rnf180
|
UTSW |
13 |
105,386,781 (GRCm39) |
small insertion |
probably benign |
|
|
R9396:Rnf180
|
UTSW |
13 |
105,318,027 (GRCm39) |
nonsense |
probably null |
|
|
R9409:Rnf180
|
UTSW |
13 |
105,386,781 (GRCm39) |
small insertion |
probably benign |
|
|
R9410:Rnf180
|
UTSW |
13 |
105,386,781 (GRCm39) |
small insertion |
probably benign |
|
|
Z1177:Rnf180
|
UTSW |
13 |
105,318,121 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGTTCAGGTCCAAACTGTGTG -3'
(R):5'- CCAAAATGTTCCTGTGGCCAG -3'
Sequencing Primer
(F):5'- CCAAACTGTGTGACTTTCTGTGAGAC -3'
(R):5'- GCTTGCAGCTGTACATCTCTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation