Incidental Mutation 'R7706:Ciao3'
| ID |
594306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciao3
|
| Ensembl Gene |
ENSMUSG00000002280 |
| Gene Name |
cytosolic iron-sulfur assembly component 3 |
| Synonyms |
Narfl, 9030612I22Rik |
| MMRRC Submission |
045767-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25992750-26002306 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 26001226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 493
(*493Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002350]
[ENSMUST00000077938]
[ENSMUST00000095500]
[ENSMUST00000131458]
[ENSMUST00000133071]
[ENSMUST00000134108]
[ENSMUST00000138759]
[ENSMUST00000140738]
[ENSMUST00000145053]
[ENSMUST00000150324]
|
| AlphaFold |
Q7TMW6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002350
AA Change: *477Q
|
| SMART Domains |
Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
AA Change: *477Q
| 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 |
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 null
Transcript: ENSMUST00000134108
AA Change: *493Q
|
| SMART Domains |
Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: *493Q
| 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 |
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 |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.9040 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
G |
A |
17: 46,044,583 (GRCm39) |
T46I |
unknown |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,719 (GRCm39) |
D109G |
probably damaging |
Het |
| B4galnt3 |
C |
A |
6: 120,195,913 (GRCm39) |
V305L |
probably benign |
Het |
| C9 |
T |
A |
15: 6,488,402 (GRCm39) |
N85K |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,305,867 (GRCm39) |
I1941V |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,183,125 (GRCm39) |
V518A |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,905,106 (GRCm39) |
Y200N |
probably damaging |
Het |
| Cir1 |
A |
G |
2: 73,142,823 (GRCm39) |
S4P |
probably damaging |
Het |
| Cish |
G |
A |
9: 107,177,840 (GRCm39) |
R172Q |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,422,506 (GRCm39) |
N693K |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,538,939 (GRCm39) |
D249G |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,447 (GRCm39) |
D528G |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,174,489 (GRCm39) |
T484S |
possibly damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,138,596 (GRCm39) |
V259A |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,519,589 (GRCm39) |
S39C |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,623,695 (GRCm39) |
M60K |
|
Het |
| Eml2 |
T |
A |
7: 18,920,035 (GRCm39) |
V113D |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,406,325 (GRCm39) |
I1141F |
probably benign |
Het |
| Gm7298 |
T |
A |
6: 121,712,570 (GRCm39) |
S127R |
probably damaging |
Het |
| Hcn2 |
G |
A |
10: 79,570,017 (GRCm39) |
R622Q |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,423,723 (GRCm39) |
W746* |
probably null |
Het |
| Irs1 |
A |
G |
1: 82,265,412 (GRCm39) |
Y935H |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,936,827 (GRCm39) |
I183V |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lalba |
T |
C |
15: 98,379,474 (GRCm39) |
D103G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,747,210 (GRCm39) |
L822P |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,076,845 (GRCm39) |
C36Y |
probably damaging |
Het |
| Ly6e |
T |
C |
15: 74,830,183 (GRCm39) |
S46P |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,244,067 (GRCm39) |
I2098T |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,381,010 (GRCm39) |
E594G |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,853 (GRCm39) |
H97Q |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,117 (GRCm39) |
D432G |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,704,793 (GRCm39) |
S836P |
probably damaging |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,868 (GRCm39) |
R282C |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,328,490 (GRCm39) |
I425T |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,085,081 (GRCm39) |
|
probably null |
Het |
| Sars1 |
C |
T |
3: 108,338,780 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
G |
9: 59,645,121 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
| Srr |
T |
G |
11: 74,803,961 (GRCm39) |
|
probably null |
Het |
| Steap2 |
T |
A |
5: 5,732,967 (GRCm39) |
N19I |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,806,433 (GRCm39) |
Y168C |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,760,281 (GRCm39) |
Q275R |
probably damaging |
Het |
| Trim56 |
T |
C |
5: 137,143,510 (GRCm39) |
N2S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,988,426 (GRCm39) |
H849L |
probably benign |
Het |
| Uevld |
A |
G |
7: 46,597,775 (GRCm39) |
I72T |
possibly damaging |
Het |
| Ybx1 |
A |
G |
4: 119,136,164 (GRCm39) |
*323Q |
probably null |
Het |
| Zfp354b |
C |
T |
11: 50,819,390 (GRCm39) |
|
probably null |
Het |
| Zfp36l2 |
A |
T |
17: 84,494,346 (GRCm39) |
L97Q |
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,771,612 (GRCm39) |
R78S |
possibly 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 |
|
|
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 |
|
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'- AGCTGGAAAGACTGTACAGC -3'
(R):5'- TGGGCTGCAGGCAACATTAC -3'
Sequencing Primer
(F):5'- CTGTACAGCATGGTGAGGACTG -3'
(R):5'- TTACCAGCCAGAGACATGGGTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation