Incidental Mutation 'R6541:Iba57'
| ID |
520780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iba57
|
| Ensembl Gene |
ENSMUSG00000049287 |
| Gene Name |
IBA57 homolog, iron-sulfur cluster assembly |
| Synonyms |
4930543L23Rik, A230051G13Rik |
| MMRRC Submission |
044667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R6541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59046195-59054565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59049689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 219
(D219E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054523]
[ENSMUST00000069631]
[ENSMUST00000137433]
|
| AlphaFold |
Q8CAK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054523
AA Change: D219E
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: D219E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ass1 |
T |
C |
2: 31,400,245 (GRCm39) |
V321A |
probably damaging |
Het |
| BC028528 |
T |
A |
3: 95,795,530 (GRCm39) |
M91L |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,713,054 (GRCm39) |
T998A |
probably benign |
Het |
| Cdkl3 |
T |
G |
11: 51,913,571 (GRCm39) |
L220R |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,548,040 (GRCm39) |
D117G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,779 (GRCm39) |
V1776A |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,224 (GRCm39) |
F116S |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,084,648 (GRCm39) |
Y20F |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,799 (GRCm39) |
V179A |
probably benign |
Het |
| Gm28360 |
T |
C |
1: 117,758,047 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,614,210 (GRCm39) |
V385I |
probably damaging |
Het |
| Il36b |
T |
A |
2: 24,049,827 (GRCm39) |
V146D |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,910,734 (GRCm39) |
V176E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,571,517 (GRCm39) |
M1060V |
possibly damaging |
Het |
| Kif18b |
T |
C |
11: 102,805,092 (GRCm39) |
K351R |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,885,607 (GRCm39) |
F342L |
possibly damaging |
Het |
| Ndufa11 |
T |
A |
17: 57,024,867 (GRCm39) |
S10T |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,492 (GRCm39) |
N198Y |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,638 (GRCm39) |
F101S |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,410 (GRCm39) |
F47Y |
probably benign |
Het |
| Or7h8 |
T |
A |
9: 20,123,695 (GRCm39) |
F17I |
probably benign |
Het |
| Pacsin3 |
A |
G |
2: 91,093,129 (GRCm39) |
E207G |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,274,103 (GRCm39) |
L136Q |
probably damaging |
Het |
| Prr18 |
G |
T |
17: 8,560,168 (GRCm39) |
R108L |
possibly damaging |
Het |
| Rdh5 |
A |
G |
10: 128,753,977 (GRCm39) |
V44A |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,542,748 (GRCm39) |
T343A |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,913,268 (GRCm39) |
N480S |
probably benign |
Het |
| Spaca7b |
T |
A |
8: 11,712,613 (GRCm39) |
Q79L |
probably benign |
Het |
| Sval3 |
A |
T |
6: 41,949,380 (GRCm39) |
N73Y |
probably damaging |
Het |
| Taar7d |
T |
C |
10: 23,904,129 (GRCm39) |
I337T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,039 (GRCm39) |
Q24618L |
possibly damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,318 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,701,480 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,939 (GRCm39) |
S155P |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,090,842 (GRCm39) |
V169E |
probably damaging |
Het |
|
| Other mutations in Iba57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Iba57
|
APN |
11 |
59,049,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGTCCAGAGAGAAGAAC -3'
(R):5'- TCCATGTACAAGATCCGGCG -3'
Sequencing Primer
(F):5'- CAGGCCTGCAGTTTATAAAGC -3'
(R):5'- TCACCGTGGAGCCAAGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation