Incidental Mutation 'IGL02926:Ciao3'
| ID |
363883 |
| 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 # |
IGL02926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25992750-26002306 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26001128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 460
(H460R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000077938]
[ENSMUST00000095500]
[ENSMUST00000131458]
[ENSMUST00000133071]
[ENSMUST00000134108]
[ENSMUST00000140738]
[ENSMUST00000138759]
[ENSMUST00000150324]
[ENSMUST00000145053]
|
| AlphaFold |
Q7TMW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002350
AA Change: H444R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
AA Change: H444R
| 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 |
probably benign
Transcript: ENSMUST00000095500
|
| SMART Domains |
Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4472
|
63 |
190 |
5.5e-23 |
PFAM |
|
coiled coil region
|
364 |
408 |
N/A |
INTRINSIC |
|
| 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
AA Change: H460R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: H460R
| 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: ENSMUST00000138100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148986
|
| 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 |
|
| 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: 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: ENSMUST00000145053
|
| SMART Domains |
Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lactamase_B
|
7 |
113 |
3.3e-16 |
PFAM |
|
| 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 |
|---|
| Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
| Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
| C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,685,326 (GRCm39) |
K399R |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
| Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
| Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
| Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 35,007,694 (GRCm39) |
D122G |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,972,568 (GRCm39) |
|
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
| Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
| Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
| Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,376,439 (GRCm39) |
N320K |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
| Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
| Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
| Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
| Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
| Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
| Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
probably damaging |
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 |
|
IGL02537:Ciao3
|
APN |
17 |
25,997,916 (GRCm39) |
unclassified |
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 |
2015-12-18 |
Incidental Mutation