Incidental Mutation 'R6388:Ciao1'
| ID |
515626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciao1
|
| Ensembl Gene |
ENSMUSG00000003662 |
| Gene Name |
cytosolic iron-sulfur protein assembly 1 |
| Synonyms |
Wdr39 |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127082858-127089736 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 127088396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 142
(C142*)
|
| 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 null
Transcript: ENSMUST00000003759
AA Change: C142*
|
| SMART Domains |
Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
AA Change: C142*
| 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 null
Transcript: ENSMUST00000174030
AA Change: C142*
|
| SMART Domains |
Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662
AA Change: C142*
| 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 null
Transcript: ENSMUST00000174863
AA Change: C142*
|
| SMART Domains |
Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662
AA Change: C142*
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
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 |
|
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 |
|
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'- GTTCCCATATCAAACCCTGTCAGAG -3'
(R):5'- AGGTCAAGTCAGTGGCTTGG -3'
Sequencing Primer
(F):5'- TGTCAGAGCAGGACAGTCC -3'
(R):5'- CCATCTGGCAACCTCTTGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation