Incidental Mutation 'R4826:Ciao3'
ID |
374167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ciao3
|
Ensembl Gene |
ENSMUSG00000002280 |
Gene Name |
cytosolic iron-sulfur assembly component 3 |
Synonyms |
Narfl, 9030612I22Rik |
MMRRC Submission |
042442-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4826 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25992750-26002306 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25999306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 240
(H240R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000077938]
[ENSMUST00000131458]
[ENSMUST00000133071]
[ENSMUST00000134108]
[ENSMUST00000140738]
[ENSMUST00000150324]
[ENSMUST00000138759]
[ENSMUST00000145053]
|
AlphaFold |
Q7TMW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002350
AA Change: H240R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000002350 Gene: ENSMUSG00000002280 AA Change: H240R
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 damaging
Transcript: ENSMUST00000134108
AA Change: H240R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117136 Gene: ENSMUSG00000002280 AA Change: H240R
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: ENSMUST00000183975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137587
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143248
|
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: 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: ENSMUST00000145053
|
SMART Domains |
Protein: ENSMUSP00000114961 Gene: ENSMUSG00000061046
Domain | Start | End | E-Value | Type |
Pfam:Lactamase_B
|
7 |
113 |
3.3e-16 |
PFAM |
|
Meta Mutation Damage Score |
0.9539 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (72/72) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
Acin1 |
A |
G |
14: 54,902,074 (GRCm39) |
S573P |
probably damaging |
Het |
Acta2 |
A |
T |
19: 34,229,223 (GRCm39) |
Y55* |
probably null |
Het |
Aifm2 |
T |
C |
10: 61,561,768 (GRCm39) |
M38T |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,650 (GRCm39) |
V460L |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,968,043 (GRCm39) |
S185P |
probably benign |
Het |
Arsj |
A |
G |
3: 126,232,451 (GRCm39) |
Y399C |
probably damaging |
Het |
Clec2d |
T |
C |
6: 129,161,122 (GRCm39) |
V73A |
probably benign |
Het |
Cntln |
T |
G |
4: 84,923,281 (GRCm39) |
M582R |
probably benign |
Het |
Cyp4a10 |
C |
T |
4: 115,375,541 (GRCm39) |
P8L |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,067,162 (GRCm39) |
N555D |
probably damaging |
Het |
Dusp4 |
T |
A |
8: 35,285,671 (GRCm39) |
F311I |
probably damaging |
Het |
Eif4g3 |
T |
C |
4: 137,905,256 (GRCm39) |
V1245A |
possibly damaging |
Het |
Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
Ext2 |
T |
C |
2: 93,592,975 (GRCm39) |
T410A |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,593,875 (GRCm39) |
E124G |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,037,106 (GRCm39) |
V3586E |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,606,108 (GRCm39) |
S611P |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,731,752 (GRCm39) |
T956A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,603,838 (GRCm39) |
T107K |
unknown |
Het |
Herc6 |
T |
A |
6: 57,624,072 (GRCm39) |
M614K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,292,706 (GRCm39) |
C4095R |
probably damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,575 (GRCm39) |
I463T |
possibly damaging |
Het |
Icam5 |
C |
T |
9: 20,949,099 (GRCm39) |
A817V |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,920,240 (GRCm39) |
D1366E |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,344,018 (GRCm39) |
V553I |
probably damaging |
Het |
Iqgap2 |
T |
A |
13: 95,899,783 (GRCm39) |
I92F |
probably damaging |
Het |
Itgb1 |
T |
A |
8: 129,446,789 (GRCm39) |
C435S |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,650,615 (GRCm39) |
M216V |
probably benign |
Het |
Mgam |
T |
C |
6: 40,657,582 (GRCm39) |
V979A |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Myh9 |
A |
T |
15: 77,673,146 (GRCm39) |
Y400* |
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,290,501 (GRCm39) |
R1033G |
possibly damaging |
Het |
Nit1 |
T |
C |
1: 171,173,166 (GRCm39) |
|
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,133,343 (GRCm39) |
|
noncoding transcript |
Het |
Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
Or12k5 |
A |
G |
2: 36,895,345 (GRCm39) |
Y94H |
probably damaging |
Het |
Or13a18 |
T |
A |
7: 140,190,232 (GRCm39) |
M51K |
probably benign |
Het |
Or1a1b |
A |
G |
11: 74,097,157 (GRCm39) |
M295T |
possibly damaging |
Het |
Or56a5 |
G |
T |
7: 104,793,175 (GRCm39) |
N108K |
probably damaging |
Het |
Or9m1 |
T |
A |
2: 87,733,693 (GRCm39) |
D109V |
probably damaging |
Het |
Pde4a |
T |
A |
9: 21,103,676 (GRCm39) |
|
probably null |
Het |
Pkn2 |
T |
C |
3: 142,515,270 (GRCm39) |
K640R |
probably damaging |
Het |
Pla2g6 |
A |
G |
15: 79,192,879 (GRCm39) |
S263P |
possibly damaging |
Het |
Prkg1 |
A |
G |
19: 31,742,006 (GRCm39) |
S73P |
possibly damaging |
Het |
Prr27 |
A |
C |
5: 87,998,825 (GRCm39) |
|
probably benign |
Het |
Rad54b |
G |
T |
4: 11,599,753 (GRCm39) |
W319L |
probably damaging |
Het |
Rassf8 |
T |
A |
6: 145,762,276 (GRCm39) |
L349H |
probably damaging |
Het |
Rmc1 |
G |
T |
18: 12,318,836 (GRCm39) |
|
probably benign |
Het |
Rnf113a2 |
T |
A |
12: 84,464,388 (GRCm39) |
N93K |
probably benign |
Het |
Sapcd2 |
C |
T |
2: 25,262,768 (GRCm39) |
A109V |
probably benign |
Het |
Slamf9 |
C |
A |
1: 172,304,008 (GRCm39) |
H118N |
probably benign |
Het |
Slc37a1 |
A |
G |
17: 31,541,147 (GRCm39) |
Y213C |
probably damaging |
Het |
Slc5a1 |
A |
G |
5: 33,316,494 (GRCm39) |
D580G |
probably benign |
Het |
Slc7a2 |
T |
A |
8: 41,364,083 (GRCm39) |
I432N |
probably damaging |
Het |
Tas2r114 |
A |
T |
6: 131,666,800 (GRCm39) |
L76Q |
probably damaging |
Het |
Tcerg1 |
C |
T |
18: 42,668,180 (GRCm39) |
P391L |
unknown |
Het |
Tdrd12 |
A |
C |
7: 35,203,582 (GRCm39) |
V314G |
probably benign |
Het |
Zbtb7b |
A |
G |
3: 89,288,080 (GRCm39) |
L246S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAAAGGCAGTGAGAACTTAATC -3'
(R):5'- AGCTGTGTCTGACTCCAGTG -3'
Sequencing Primer
(F):5'- CAGTGAGAACTTAATCTCCTGGGC -3'
(R):5'- GTTGTAAGGACACAGTCC -3'
|
Posted On |
2016-03-01 |