Incidental Mutation 'R0467:Iba57'
| ID |
41703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iba57
|
| Ensembl Gene |
ENSMUSG00000049287 |
| Gene Name |
IBA57 homolog, iron-sulfur cluster assembly |
| Synonyms |
4930543L23Rik, A230051G13Rik |
| MMRRC Submission |
038667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R0467 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59046195-59054565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59054265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 85
(T85A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054523]
[ENSMUST00000069631]
[ENSMUST00000137433]
|
| AlphaFold |
Q8CAK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054523
AA Change: T85A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: T85A
| 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
AA Change: T85A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114501
Gene: ENSMUSG00000049287
AA Change: T85A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:GCV_T
|
50 |
148 |
7.7e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
98% (52/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,495 (GRCm39) |
I139T |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,317,471 (GRCm39) |
D333E |
probably benign |
Het |
| Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
| Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
| Ipo4 |
A |
T |
14: 55,872,983 (GRCm39) |
M1K |
probably null |
Het |
| Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
| Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
| Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
| Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
| Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
| Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
| Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
| Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
| Pgr |
C |
T |
9: 8,900,779 (GRCm39) |
A104V |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
| Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
| Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
| Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,715 (GRCm39) |
S683P |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
| Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
| Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTAGCGCAACCTGGATGCCTTC -3'
(R):5'- CTTTGGCCTTCTTGGCAGCAAC -3'
Sequencing Primer
(F):5'- CAAGGGTGTCTAGCCAGTATTCC -3'
(R):5'- CCTTCCTGTTGGGACTATCG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation