Incidental Mutation 'R2427:Ciao1'
| ID |
250260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciao1
|
| Ensembl Gene |
ENSMUSG00000003662 |
| Gene Name |
cytosolic iron-sulfur protein assembly 1 |
| Synonyms |
Wdr39 |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127082858-127089736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127088611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 104
(H104R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003759]
[ENSMUST00000035871]
[ENSMUST00000172636]
[ENSMUST00000174030]
[ENSMUST00000174288]
[ENSMUST00000174503]
[ENSMUST00000174863]
|
| AlphaFold |
Q99KN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003759
AA Change: H104R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
AA Change: H104R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
WD40
|
49 |
89 |
4.27e-8 |
SMART |
|
WD40
|
94 |
133 |
5.22e-12 |
SMART |
|
WD40
|
139 |
178 |
6.04e-8 |
SMART |
|
WD40
|
183 |
222 |
9.22e-13 |
SMART |
|
WD40
|
240 |
280 |
8.04e-4 |
SMART |
|
WD40
|
291 |
332 |
5.26e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035871
|
| SMART Domains |
Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Blast:Sec63
|
37 |
179 |
3e-98 |
BLAST |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172636
|
| SMART Domains |
Protein: ENSMUSP00000134199
Gene: ENSMUSG00000003662
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174030
AA Change: H104R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662
AA Change: H104R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
WD40
|
49 |
89 |
4.27e-8 |
SMART |
|
WD40
|
94 |
133 |
5.22e-12 |
SMART |
|
WD40
|
139 |
178 |
6.04e-8 |
SMART |
|
WD40
|
183 |
222 |
9.22e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174288
|
| SMART Domains |
Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Sec63
|
1 |
95 |
1e-60 |
BLAST |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174503
|
| SMART Domains |
Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Blast:Sec63
|
37 |
124 |
8e-37 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174863
AA Change: H104R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662
AA Change: H104R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
WD40
|
49 |
89 |
4.27e-8 |
SMART |
|
WD40
|
94 |
133 |
5.22e-12 |
SMART |
|
WD40
|
139 |
176 |
1.38e1 |
SMART |
|
| Meta Mutation Damage Score |
0.9464 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
| Other mutations in Ciao1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01921:Ciao1
|
APN |
2 |
127,084,755 (GRCm39) |
missense |
probably benign |
|
|
R1662:Ciao1
|
UTSW |
2 |
127,086,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1703:Ciao1
|
UTSW |
2 |
127,087,739 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1935:Ciao1
|
UTSW |
2 |
127,088,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1940:Ciao1
|
UTSW |
2 |
127,088,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5891:Ciao1
|
UTSW |
2 |
127,089,054 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6295:Ciao1
|
UTSW |
2 |
127,088,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6388:Ciao1
|
UTSW |
2 |
127,088,396 (GRCm39) |
nonsense |
probably null |
|
|
R7211:Ciao1
|
UTSW |
2 |
127,088,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7448:Ciao1
|
UTSW |
2 |
127,087,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7572:Ciao1
|
UTSW |
2 |
127,088,631 (GRCm39) |
nonsense |
probably null |
|
|
R8145:Ciao1
|
UTSW |
2 |
127,087,726 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8245:Ciao1
|
UTSW |
2 |
127,088,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Ciao1
|
UTSW |
2 |
127,088,599 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9229:Ciao1
|
UTSW |
2 |
127,089,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Ciao1
|
UTSW |
2 |
127,087,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9503:Ciao1
|
UTSW |
2 |
127,084,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9605:Ciao1
|
UTSW |
2 |
127,087,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGGAGGAACAAATTAGACCC -3'
(R):5'- CCCCAGGGCTTGGTCATATTAG -3'
Sequencing Primer
(F):5'- CCAGAGGTGACCAGTCAGG -3'
(R):5'- GTTCATGACTGTAATGCCAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation