Incidental Mutation 'RF011:Iba57'
| ID |
603220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iba57
|
| Ensembl Gene |
ENSMUSG00000049287 |
| Gene Name |
IBA57 homolog, iron-sulfur cluster assembly |
| Synonyms |
4930543L23Rik, A230051G13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
RF011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59046195-59054565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59054438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 27
(A27E)
|
| 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: A27E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: A27E
| 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: A27E
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114501
Gene: ENSMUSG00000049287
AA Change: A27E
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGCTG |
TGCTGTGGCGGCTG |
1: 82,891,307 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
| Aqp2 |
T |
C |
15: 99,481,753 (GRCm39) |
S216P |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,721,009 (GRCm39) |
K672R |
possibly damaging |
Het |
| Cacna1f |
GGA |
GGAAGA |
X: 7,486,295 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
CCA |
CCAGCA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
| Cela2a |
T |
C |
4: 141,549,026 (GRCm39) |
N117D |
probably benign |
Het |
| Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
A |
T |
7: 107,350,375 (GRCm39) |
S235R |
probably benign |
Het |
| Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TT |
TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT |
9: 20,821,440 (GRCm39) |
|
probably null |
Het |
| E4f1 |
CCG |
CCGTCG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
TCCAGCA |
TCCAGCACCAGCA |
2: 83,643,217 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
| Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
| Flii |
G |
A |
11: 60,607,069 (GRCm39) |
A969V |
probably benign |
Het |
| Fscb |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
12: 64,519,768 (GRCm39) |
|
probably benign |
Het |
| Gas1 |
G |
GAAA |
13: 60,324,345 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,767,220 (GRCm39) |
D115G |
probably null |
Het |
| Guca2b |
G |
T |
4: 119,514,044 (GRCm39) |
T89N |
possibly damaging |
Het |
| Hcn4 |
T |
A |
9: 58,767,198 (GRCm39) |
S920T |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,422,425 (GRCm39) |
M484V |
probably benign |
Het |
| Ifi207 |
G |
C |
1: 173,556,687 (GRCm39) |
L684V |
not run |
Het |
| Ints13 |
T |
C |
6: 146,457,738 (GRCm39) |
H380R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,055,978 (GRCm39) |
T466I |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Kif12 |
C |
CCTCCACCCGGCGGGG |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,543,457 (GRCm39) |
D1399E |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,367,648 (GRCm39) |
L2371Q |
probably damaging |
Het |
| Mbd1 |
GTCTTCGTCTGCATCTGCATCTGCATCT |
GTCT |
18: 74,406,681 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
| Mgam |
C |
A |
6: 40,734,370 (GRCm39) |
Q1472K |
probably damaging |
Het |
| Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CGCCGC |
CGCCGCAGCCGC |
X: 98,864,967 (GRCm39) |
|
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,824,156 (GRCm39) |
N167D |
probably damaging |
Het |
| Or4d10c |
C |
T |
19: 12,065,611 (GRCm39) |
V182I |
probably benign |
Het |
| Or5be3 |
T |
A |
2: 86,864,385 (GRCm39) |
Y60F |
probably damaging |
Het |
| Osbpl3 |
CCTGCA |
C |
6: 50,325,118 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCCCCC |
CCCCCCCCCCCCCCCC |
2: 156,146,540 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCCCC |
CCCCCCCCCCCCCCC |
2: 156,146,541 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
| Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,281,878 (GRCm39) |
F445S |
probably damaging |
Het |
| S100a10 |
TTTTTTTA |
T |
3: 93,471,541 (GRCm39) |
|
probably benign |
Het |
| Sbp |
AA |
AAAATGCTGACAACGGA |
17: 24,164,328 (GRCm39) |
|
probably benign |
Het |
| Sec14l3 |
A |
C |
11: 4,017,963 (GRCm39) |
Q81P |
possibly damaging |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,515 (GRCm39) |
|
probably benign |
Het |
| Six3 |
CGG |
CGGGGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
A |
G |
2: 163,067,484 (GRCm39) |
I68V |
probably benign |
Het |
| Triml2 |
G |
T |
8: 43,636,201 (GRCm39) |
|
probably benign |
Het |
| Tspan33 |
A |
G |
6: 29,716,729 (GRCm39) |
Y162C |
probably damaging |
Het |
| Zfp384 |
GGCCCAGGCCCA |
GGCCCAGGCCCAAGCCCAGGCCCA |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
T |
C |
17: 21,808,574 (GRCm39) |
Y589H |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,383 (GRCm39) |
I230V |
probably benign |
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 |
|
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 |
|
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'- TCAGGAAATGGGCATACGC -3'
(R):5'- TTTATCTGGGCTTGCGCAC -3'
Sequencing Primer
(F):5'- ACGCGCAGAGGGCTGAG -3'
(R):5'- ACCCATCCACTGGCTGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation