Incidental Mutation 'IGL01921:Ciao1'
| ID |
180113 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ciao1
|
| Ensembl Gene |
ENSMUSG00000003662 |
| Gene Name |
cytosolic iron-sulfur protein assembly 1 |
| Synonyms |
Wdr39 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
IGL01921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127082858-127089736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127084755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 328
(V328I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003759]
[ENSMUST00000103220]
[ENSMUST00000172636]
[ENSMUST00000174030]
[ENSMUST00000174863]
|
| AlphaFold |
Q99KN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003759
AA Change: V328I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
AA Change: V328I
| 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: ENSMUST00000103220
|
| SMART Domains |
Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
DEXDc
|
477 |
690 |
2.63e-30 |
SMART |
|
AAA
|
495 |
680 |
5.77e-2 |
SMART |
|
HELICc
|
768 |
860 |
3.76e-17 |
SMART |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
Sec63
|
981 |
1286 |
2.62e-128 |
SMART |
|
DEXDc
|
1324 |
1528 |
1.43e-31 |
SMART |
|
AAA
|
1342 |
1533 |
2.39e0 |
SMART |
|
HELICc
|
1607 |
1695 |
1.26e-9 |
SMART |
|
Sec63
|
1812 |
2124 |
1.39e-118 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143481
|
| 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 benign
Transcript: ENSMUST00000174030
|
| SMART Domains |
Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662
| 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: ENSMUST00000174863
|
| SMART Domains |
Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
| Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
| Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
| Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
| Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
| Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
| Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
| Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
| Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
| Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
| Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ciao1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2427:Ciao1
|
UTSW |
2 |
127,088,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation