Incidental Mutation 'R5789:Ciao3'
ID |
448236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ciao3
|
Ensembl Gene |
ENSMUSG00000002280 |
Gene Name |
cytosolic iron-sulfur assembly component 3 |
Synonyms |
Narfl, 9030612I22Rik |
MMRRC Submission |
043383-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5789 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25992750-26002306 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26000177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 303
(C303R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000077938]
[ENSMUST00000131458]
[ENSMUST00000133071]
[ENSMUST00000134108]
[ENSMUST00000140738]
[ENSMUST00000138759]
[ENSMUST00000150324]
[ENSMUST00000145053]
|
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
AA Change: C303R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117136 Gene: ENSMUSG00000002280 AA Change: C303R
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: ENSMUST00000143248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137587
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
97% (61/63) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
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 |
R4826:Ciao3
|
UTSW |
17 |
25,999,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R5382:Ciao3
|
UTSW |
17 |
25,995,894 (GRCm39) |
unclassified |
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'- GGGGACTGAGAAACCTTACTTGG -3'
(R):5'- TTGATAGGTGACTTCAGCCAC -3'
Sequencing Primer
(F):5'- ACCTTACTTGGGATCAGATGC -3'
(R):5'- CACGTGGATTCCAAAGAGCTCTTG -3'
|
Posted On |
2016-12-15 |