Incidental Mutation 'IGL01625:Iba57'
| ID |
92768 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iba57
|
| Ensembl Gene |
ENSMUSG00000049287 |
| Gene Name |
IBA57 homolog, iron-sulfur cluster assembly |
| Synonyms |
4930543L23Rik, A230051G13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
IGL01625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59046195-59054565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59049775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 191
(R191W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054523]
[ENSMUST00000069631]
[ENSMUST00000137433]
|
| AlphaFold |
Q8CAK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054523
AA Change: R191W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: R191W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:GCV_T_C
|
259 |
352 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069631
|
| SMART Domains |
Protein: ENSMUSP00000065882
Gene: ENSMUSG00000049287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137433
|
| SMART Domains |
Protein: ENSMUSP00000114501
Gene: ENSMUSG00000049287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:GCV_T
|
50 |
148 |
7.7e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
| Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
| Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
| Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
| Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
| Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
| Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
| Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
| Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
| Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
| Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
| Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
| Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Iba57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02496:Iba57
|
APN |
11 |
59,049,772 (GRCm39) |
missense |
probably benign |
0.26 |
|
FR4737:Iba57
|
UTSW |
11 |
59,052,331 (GRCm39) |
frame shift |
probably null |
|
|
R0052:Iba57
|
UTSW |
11 |
59,049,727 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0103:Iba57
|
UTSW |
11 |
59,054,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0467:Iba57
|
UTSW |
11 |
59,054,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4540:Iba57
|
UTSW |
11 |
59,053,904 (GRCm39) |
intron |
probably benign |
|
|
R4626:Iba57
|
UTSW |
11 |
59,049,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6344:Iba57
|
UTSW |
11 |
59,049,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6541:Iba57
|
UTSW |
11 |
59,049,689 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6711:Iba57
|
UTSW |
11 |
59,049,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Iba57
|
UTSW |
11 |
59,049,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Iba57
|
UTSW |
11 |
59,052,288 (GRCm39) |
missense |
unknown |
|
|
R8065:Iba57
|
UTSW |
11 |
59,054,086 (GRCm39) |
intron |
probably benign |
|
|
R8067:Iba57
|
UTSW |
11 |
59,054,086 (GRCm39) |
intron |
probably benign |
|
|
R8959:Iba57
|
UTSW |
11 |
59,052,461 (GRCm39) |
missense |
probably benign |
0.35 |
|
RF011:Iba57
|
UTSW |
11 |
59,054,438 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1186:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1186:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1186:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
Z1186:Iba57
|
UTSW |
11 |
59,052,332 (GRCm39) |
frame shift |
probably null |
|
|
Z1186:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1187:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
Z1187:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Iba57
|
UTSW |
11 |
59,052,330 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1188:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1188:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1188:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1188:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
Z1189:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1189:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1189:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1189:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
Z1190:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1190:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1190:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
Z1191:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1191:Iba57
|
UTSW |
11 |
59,052,332 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
Z1191:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1192:Iba57
|
UTSW |
11 |
59,052,384 (GRCm39) |
missense |
unknown |
|
|
Z1192:Iba57
|
UTSW |
11 |
59,052,381 (GRCm39) |
missense |
unknown |
|
|
Z1192:Iba57
|
UTSW |
11 |
59,052,329 (GRCm39) |
frame shift |
probably null |
|
|
Z1192:Iba57
|
UTSW |
11 |
59,053,865 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation