Incidental Mutation 'R4626:Iba57'
| ID |
348792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iba57
|
| Ensembl Gene |
ENSMUSG00000049287 |
| Gene Name |
IBA57 homolog, iron-sulfur cluster assembly |
| Synonyms |
4930543L23Rik, A230051G13Rik |
| MMRRC Submission |
041891-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R4626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59046195-59054565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59049287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 294
(V294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054523]
[ENSMUST00000069631]
[ENSMUST00000137433]
|
| AlphaFold |
Q8CAK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054523
AA Change: V294A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: V294A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
C |
11: 84,313,784 (GRCm39) |
*527G |
probably null |
Het |
| Abca17 |
A |
T |
17: 24,540,058 (GRCm39) |
I390N |
probably damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd49 |
A |
C |
9: 14,693,936 (GRCm39) |
L77R |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,621,837 (GRCm39) |
F255V |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,698,193 (GRCm39) |
N171I |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,863 (GRCm39) |
D953G |
probably damaging |
Het |
| Atxn1 |
T |
C |
13: 45,720,575 (GRCm39) |
Y440C |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,322,457 (GRCm39) |
Y268H |
possibly damaging |
Het |
| Brms1l |
C |
A |
12: 55,909,958 (GRCm39) |
P243T |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,927,605 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,358,294 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
A |
T |
1: 139,741,314 (GRCm39) |
N220K |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,903 (GRCm39) |
I831V |
possibly damaging |
Het |
| F2 |
T |
A |
2: 91,461,015 (GRCm39) |
N239I |
probably benign |
Het |
| Fbln5 |
T |
A |
12: 101,727,086 (GRCm39) |
D301V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,146,819 (GRCm39) |
C2692* |
probably null |
Het |
| Fhdc1 |
C |
T |
3: 84,381,557 (GRCm39) |
D34N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,747,878 (GRCm39) |
M253K |
probably damaging |
Het |
| Gpc6 |
C |
A |
14: 118,202,255 (GRCm39) |
Y488* |
probably null |
Het |
| Grm5 |
G |
T |
7: 87,779,361 (GRCm39) |
G934C |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,088,958 (GRCm39) |
L119S |
probably damaging |
Het |
| H2-T15 |
CTGGGTG |
CTG |
17: 36,368,788 (GRCm39) |
|
probably null |
Het |
| Htra4 |
T |
C |
8: 25,527,130 (GRCm39) |
N222D |
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lama5 |
G |
A |
2: 179,826,253 (GRCm39) |
T2330M |
probably damaging |
Het |
| Lrguk |
G |
A |
6: 34,106,158 (GRCm39) |
E728K |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
| Mettl18 |
T |
A |
1: 163,824,045 (GRCm39) |
V122E |
probably damaging |
Het |
| Mindy2 |
G |
A |
9: 70,534,063 (GRCm39) |
S378L |
probably damaging |
Het |
| Mis18bp1 |
G |
T |
12: 65,187,540 (GRCm39) |
F854L |
probably damaging |
Het |
| Mtdh |
C |
T |
15: 34,114,980 (GRCm39) |
R106* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,923,416 (GRCm39) |
V1315E |
possibly damaging |
Het |
| Nup58 |
A |
G |
14: 60,476,004 (GRCm39) |
V271A |
probably benign |
Het |
| Or1j1 |
A |
G |
2: 36,702,271 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4c101 |
T |
C |
2: 88,390,176 (GRCm39) |
V121A |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,359 (GRCm39) |
S109P |
probably damaging |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,140,051 (GRCm39) |
N560I |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,535,302 (GRCm39) |
F432Y |
probably benign |
Het |
| Peg10 |
GGATCC |
GGATCCCCATCAAGATCC |
6: 4,756,460 (GRCm39) |
|
probably benign |
Het |
| Poll |
C |
A |
19: 45,543,563 (GRCm39) |
M385I |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,144,424 (GRCm39) |
K737E |
possibly damaging |
Het |
| Prr16 |
C |
T |
18: 51,435,911 (GRCm39) |
T130I |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,510,873 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,460,571 (GRCm39) |
I1101T |
possibly damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
| Snx10 |
A |
G |
6: 51,565,270 (GRCm39) |
D129G |
probably damaging |
Het |
| Stub1 |
A |
G |
17: 26,050,845 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,779,186 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Ugt2b36 |
A |
C |
5: 87,239,947 (GRCm39) |
F146C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,160,172 (GRCm39) |
I692V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,091,800 (GRCm39) |
L513P |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,699 (GRCm39) |
V2619D |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,315,844 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,542,912 (GRCm39) |
F142L |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCATCCAAGCTACTTG -3'
(R):5'- TTGAATCCCACAGGCATCCC -3'
Sequencing Primer
(F):5'- CTACTTGGCAGCTGTGGGC -3'
(R):5'- AGGGAGTCTGTGATCTTCCCC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation