Incidental Mutation 'IGL02537:Ciao3'
| ID |
297574 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ciao3
|
| Ensembl Gene |
ENSMUSG00000002280 |
| Gene Name |
cytosolic iron-sulfur assembly component 3 |
| Synonyms |
Narfl, 9030612I22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25992750-26002306 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 25997916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000077938]
[ENSMUST00000131458]
[ENSMUST00000133071]
[ENSMUST00000134108]
[ENSMUST00000150324]
[ENSMUST00000138759]
[ENSMUST00000140738]
|
| AlphaFold |
Q7TMW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002350
|
| SMART Domains |
Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fe_hyd_lg_C
|
110 |
406 |
8.5e-95 |
PFAM |
|
Fe_hyd_SSU
|
410 |
466 |
9.56e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077938
|
| SMART Domains |
Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
11 |
173 |
7.63e-25 |
SMART |
|
Pfam:HAGH_C
|
174 |
270 |
3.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131458
|
| SMART Domains |
Protein: ENSMUSP00000120281
Gene: ENSMUSG00000002280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133071
|
| SMART Domains |
Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
1 |
125 |
1.34e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134108
|
| SMART Domains |
Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fe_hyd_lg_C
|
110 |
422 |
4e-85 |
PFAM |
|
Fe_hyd_SSU
|
426 |
482 |
9.56e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150324
|
| SMART Domains |
Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
11 |
173 |
7.63e-25 |
SMART |
|
Pfam:HAGH_C
|
174 |
270 |
3.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138759
|
| SMART Domains |
Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
1 |
125 |
1.34e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140738
|
| SMART Domains |
Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
11 |
173 |
7.63e-25 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted knock-out die before E10.5. Mice heterozygous for a targeted allele exhibit partial lethality between E10.5 and birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Alx3 |
T |
A |
3: 107,512,175 (GRCm39) |
M271K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,749,565 (GRCm39) |
E488G |
probably damaging |
Het |
| Arsk |
T |
A |
13: 76,223,025 (GRCm39) |
R191* |
probably null |
Het |
| B230217C12Rik |
T |
C |
11: 97,733,011 (GRCm39) |
S111P |
possibly damaging |
Het |
| Bckdhb |
A |
G |
9: 83,871,194 (GRCm39) |
I158V |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,643,267 (GRCm39) |
Q1026* |
probably null |
Het |
| C8a |
A |
G |
4: 104,703,148 (GRCm39) |
M303T |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,274,596 (GRCm39) |
T905A |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,208,310 (GRCm39) |
K132* |
probably null |
Het |
| Depdc5 |
T |
A |
5: 33,125,131 (GRCm39) |
L531Q |
probably damaging |
Het |
| Dzip1 |
G |
A |
14: 119,146,988 (GRCm39) |
|
probably benign |
Het |
| F5 |
C |
A |
1: 164,020,686 (GRCm39) |
L1054I |
probably benign |
Het |
| Gm4353 |
A |
T |
7: 115,682,987 (GRCm39) |
I198N |
probably damaging |
Het |
| Il1a |
T |
A |
2: 129,150,996 (GRCm39) |
E9V |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
| Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,490,326 (GRCm39) |
V276A |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,424,549 (GRCm39) |
Y290N |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,439,739 (GRCm39) |
S236A |
possibly damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,020 (GRCm39) |
D52V |
possibly damaging |
Het |
| Palld |
T |
C |
8: 62,137,968 (GRCm39) |
S596G |
probably benign |
Het |
| Pdc |
A |
T |
1: 150,208,760 (GRCm39) |
D81V |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,595,209 (GRCm39) |
K361R |
possibly damaging |
Het |
| Plekhm1 |
T |
A |
11: 103,288,018 (GRCm39) |
D43V |
probably damaging |
Het |
| Prpf31 |
G |
T |
7: 3,641,750 (GRCm39) |
G356C |
probably damaging |
Het |
| Rbpj |
T |
A |
5: 53,799,485 (GRCm39) |
I100K |
probably damaging |
Het |
| Rufy3 |
A |
G |
5: 88,788,521 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,950,553 (GRCm39) |
V300I |
probably benign |
Het |
| Slc6a12 |
A |
T |
6: 121,337,473 (GRCm39) |
I386F |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,210 (GRCm39) |
R569H |
possibly damaging |
Het |
| Tep1 |
A |
T |
14: 51,073,570 (GRCm39) |
D1996E |
probably damaging |
Het |
| Tmem68 |
A |
G |
4: 3,569,649 (GRCm39) |
S14P |
possibly damaging |
Het |
| Trav12-1 |
C |
A |
14: 53,775,980 (GRCm39) |
C44* |
probably null |
Het |
| Uba1 |
G |
A |
X: 20,544,902 (GRCm39) |
R693H |
possibly damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,569,590 (GRCm39) |
T246A |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,249,564 (GRCm39) |
Y1427C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,496 (GRCm39) |
Y558F |
probably damaging |
Het |
| Wdr54 |
A |
G |
6: 83,130,372 (GRCm39) |
W221R |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,831,290 (GRCm39) |
T773A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,874 (GRCm39) |
S1268T |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,898,087 (GRCm39) |
D279G |
probably benign |
Het |
|
| Other mutations in Ciao3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02166:Ciao3
|
APN |
17 |
25,999,294 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02266:Ciao3
|
APN |
17 |
25,999,300 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02926:Ciao3
|
APN |
17 |
26,001,128 (GRCm39) |
missense |
probably benign |
|
|
napoleon
|
UTSW |
17 |
26,001,226 (GRCm39) |
makesense |
probably null |
|
|
R0097:Ciao3
|
UTSW |
17 |
25,995,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0097:Ciao3
|
UTSW |
17 |
25,995,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0723:Ciao3
|
UTSW |
17 |
26,000,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Ciao3
|
UTSW |
17 |
25,994,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Ciao3
|
UTSW |
17 |
25,995,962 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4737:Ciao3
|
UTSW |
17 |
26,000,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Ciao3
|
UTSW |
17 |
26,000,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Ciao3
|
UTSW |
17 |
26,000,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Ciao3
|
UTSW |
17 |
25,999,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4826:Ciao3
|
UTSW |
17 |
25,999,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Ciao3
|
UTSW |
17 |
25,995,894 (GRCm39) |
unclassified |
probably benign |
|
|
R5789:Ciao3
|
UTSW |
17 |
26,000,177 (GRCm39) |
missense |
probably benign |
|
|
R7275:Ciao3
|
UTSW |
17 |
25,994,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7576:Ciao3
|
UTSW |
17 |
25,997,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Ciao3
|
UTSW |
17 |
26,001,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7706:Ciao3
|
UTSW |
17 |
26,001,226 (GRCm39) |
makesense |
probably null |
|
|
R7911:Ciao3
|
UTSW |
17 |
25,999,372 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8103:Ciao3
|
UTSW |
17 |
25,996,395 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9322:Ciao3
|
UTSW |
17 |
25,998,548 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation