Incidental Mutation 'IGL02166:Ciao3'
| ID |
282707 |
| 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 # |
IGL02166
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25992750-26002306 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25999294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000077938]
[ENSMUST00000131458]
[ENSMUST00000133071]
[ENSMUST00000134108]
[ENSMUST00000140738]
[ENSMUST00000150324]
[ENSMUST00000145053]
[ENSMUST00000138759]
|
| AlphaFold |
Q7TMW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002350
AA Change: D236G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
AA Change: D236G
| 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 |
possibly damaging
Transcript: ENSMUST00000134108
AA Change: D236G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: D236G
| 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: ENSMUST00000148986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183975
|
| 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: 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 |
|
| 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 |
|
| 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 |
|---|
| Aopep |
A |
G |
13: 63,163,267 (GRCm39) |
H96R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,917,083 (GRCm39) |
D344G |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,594,914 (GRCm39) |
I1399V |
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,294,509 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
C |
T |
7: 80,327,147 (GRCm39) |
G60R |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,594,999 (GRCm39) |
V701M |
probably damaging |
Het |
| Eif3b |
T |
A |
5: 140,425,705 (GRCm39) |
C632S |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,039,499 (GRCm39) |
R417Q |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,190,726 (GRCm39) |
|
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,678,149 (GRCm39) |
V104A |
probably damaging |
Het |
| Ighv1-55 |
T |
C |
12: 115,171,840 (GRCm39) |
S76G |
probably benign |
Het |
| Ikbip |
T |
C |
10: 90,931,652 (GRCm39) |
S99P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,360,061 (GRCm39) |
E318G |
probably damaging |
Het |
| Lrrc66 |
G |
A |
5: 73,764,634 (GRCm39) |
T803M |
probably damaging |
Het |
| Nxf2 |
C |
A |
X: 133,857,878 (GRCm39) |
W89L |
possibly damaging |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,022 (GRCm39) |
I38F |
probably damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,782 (GRCm39) |
I43F |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,667,983 (GRCm39) |
C5S |
probably damaging |
Het |
| Ovol2 |
T |
C |
2: 144,147,650 (GRCm39) |
N200S |
possibly damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,120,487 (GRCm39) |
D207G |
probably benign |
Het |
| Prdm11 |
C |
T |
2: 92,843,208 (GRCm39) |
V84M |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,275 (GRCm39) |
E17V |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,620 (GRCm39) |
N357D |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,323,447 (GRCm39) |
D1447E |
possibly damaging |
Het |
| Sdad1 |
G |
A |
5: 92,439,621 (GRCm39) |
T433I |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,918,093 (GRCm39) |
N149S |
probably damaging |
Het |
| Sigirr |
T |
C |
7: 140,672,140 (GRCm39) |
I268M |
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,246,162 (GRCm39) |
F282S |
probably damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,245,159 (GRCm39) |
M596K |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,017,797 (GRCm39) |
E494K |
probably damaging |
Het |
| Stk32b |
C |
A |
5: 37,656,374 (GRCm39) |
|
probably benign |
Het |
| Tex13b |
T |
C |
X: 139,713,475 (GRCm39) |
E122G |
probably damaging |
Het |
| Tmem35a |
A |
G |
X: 133,205,357 (GRCm39) |
N91S |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,313 (GRCm39) |
V841A |
possibly damaging |
Het |
| Trdv2-1 |
A |
G |
14: 54,184,068 (GRCm39) |
D100G |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,346 (GRCm39) |
S112P |
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,623,938 (GRCm39) |
M82T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,562,723 (GRCm39) |
S28744P |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,405 (GRCm39) |
S55P |
probably damaging |
Het |
| Zmat5 |
T |
A |
11: 4,687,363 (GRCm39) |
Y139N |
possibly damaging |
Het |
| Zswim2 |
G |
A |
2: 83,745,750 (GRCm39) |
Q563* |
probably null |
Het |
|
| Other mutations in Ciao3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02266:Ciao3
|
APN |
17 |
25,999,300 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02537:Ciao3
|
APN |
17 |
25,997,916 (GRCm39) |
unclassified |
probably benign |
|
|
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