Incidental Mutation 'IGL01395:Frrs1'
ID |
79405 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Frrs1
|
Ensembl Gene |
ENSMUSG00000033386 |
Gene Name |
ferric-chelate reductase 1 |
Synonyms |
Sdfr2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL01395
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116694654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 492
(I492V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000199030]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040260
AA Change: I492V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000039487 Gene: ENSMUSG00000033386 AA Change: I492V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Reeler
|
32 |
155 |
1.1e-34 |
PFAM |
low complexity region
|
171 |
184 |
N/A |
INTRINSIC |
DoH
|
242 |
331 |
7.72e-9 |
SMART |
B561
|
372 |
501 |
1.87e-42 |
SMART |
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
transmembrane domain
|
570 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195905
AA Change: I492V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000143255 Gene: ENSMUSG00000033386 AA Change: I492V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Reeler
|
31 |
156 |
4.6e-40 |
PFAM |
low complexity region
|
171 |
184 |
N/A |
INTRINSIC |
DoH
|
242 |
331 |
7.72e-9 |
SMART |
B561
|
372 |
501 |
1.87e-42 |
SMART |
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
transmembrane domain
|
570 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197323
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199030
|
SMART Domains |
Protein: ENSMUSP00000142793 Gene: ENSMUSG00000033386
Domain | Start | End | E-Value | Type |
B561
|
1 |
99 |
1.5e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199584
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,575,880 (GRCm39) |
R52H |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,383 (GRCm39) |
Y84N |
possibly damaging |
Het |
B3gnt4 |
T |
A |
5: 123,649,131 (GRCm39) |
F165L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,198,919 (GRCm39) |
I157V |
probably benign |
Het |
Clpx |
T |
C |
9: 65,209,133 (GRCm39) |
S83P |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,812,980 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
G |
7: 144,011,464 (GRCm39) |
V115A |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,361 (GRCm39) |
V770I |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,717,164 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,338,056 (GRCm39) |
Y175* |
probably null |
Het |
Dhx58 |
C |
T |
11: 100,594,752 (GRCm39) |
G48D |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,854,979 (GRCm39) |
F178I |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,339 (GRCm39) |
I629T |
probably damaging |
Het |
Gm16505 |
G |
A |
13: 3,411,242 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
G |
A |
9: 118,364,441 (GRCm39) |
G259D |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,371,534 (GRCm39) |
H668R |
unknown |
Het |
Gucy2c |
G |
T |
6: 136,675,027 (GRCm39) |
Q1019K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,544 (GRCm39) |
|
probably null |
Het |
Jph2 |
T |
C |
2: 163,181,847 (GRCm39) |
N439S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,047 (GRCm39) |
D1249E |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,687 (GRCm39) |
V246A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,639,444 (GRCm39) |
D1295G |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,922,792 (GRCm39) |
M599K |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,635,477 (GRCm39) |
S193P |
possibly damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,165 (GRCm39) |
Q33L |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,350,225 (GRCm39) |
M514K |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,713 (GRCm39) |
F73L |
probably damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,460 (GRCm39) |
T110S |
possibly damaging |
Het |
Or9i2 |
A |
T |
19: 13,816,316 (GRCm39) |
S74T |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,216,368 (GRCm39) |
V569A |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,490,943 (GRCm39) |
H324R |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,847,374 (GRCm39) |
H155R |
possibly damaging |
Het |
Prpf19 |
C |
T |
19: 10,878,375 (GRCm39) |
T287I |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Pygb |
C |
A |
2: 150,643,503 (GRCm39) |
Q97K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,118,288 (GRCm39) |
K210E |
probably benign |
Het |
Rttn |
T |
G |
18: 89,147,894 (GRCm39) |
N2182K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,728 (GRCm39) |
Q18R |
probably damaging |
Het |
Stat4 |
C |
T |
1: 52,051,033 (GRCm39) |
R31W |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,846 (GRCm39) |
C128* |
probably null |
Het |
Tm9sf3 |
T |
C |
19: 41,244,715 (GRCm39) |
E54G |
probably damaging |
Het |
Tmx1 |
A |
T |
12: 70,507,251 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,613,939 (GRCm39) |
V859E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,194,158 (GRCm39) |
D1360G |
probably damaging |
Het |
|
Other mutations in Frrs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00577:Frrs1
|
APN |
3 |
116,696,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00792:Frrs1
|
APN |
3 |
116,678,944 (GRCm39) |
splice site |
probably null |
|
IGL01504:Frrs1
|
APN |
3 |
116,694,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01548:Frrs1
|
APN |
3 |
116,678,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Frrs1
|
APN |
3 |
116,678,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Frrs1
|
APN |
3 |
116,696,116 (GRCm39) |
unclassified |
probably benign |
|
IGL03104:Frrs1
|
APN |
3 |
116,675,431 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03143:Frrs1
|
APN |
3 |
116,692,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R0023:Frrs1
|
UTSW |
3 |
116,690,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R0023:Frrs1
|
UTSW |
3 |
116,690,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Frrs1
|
UTSW |
3 |
116,678,946 (GRCm39) |
splice site |
probably benign |
|
R0051:Frrs1
|
UTSW |
3 |
116,678,946 (GRCm39) |
splice site |
probably benign |
|
R0107:Frrs1
|
UTSW |
3 |
116,690,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R0138:Frrs1
|
UTSW |
3 |
116,675,456 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0532:Frrs1
|
UTSW |
3 |
116,676,813 (GRCm39) |
missense |
probably benign |
|
R0646:Frrs1
|
UTSW |
3 |
116,696,070 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1534:Frrs1
|
UTSW |
3 |
116,672,057 (GRCm39) |
missense |
probably benign |
0.14 |
R1596:Frrs1
|
UTSW |
3 |
116,676,848 (GRCm39) |
intron |
probably benign |
|
R1880:Frrs1
|
UTSW |
3 |
116,690,444 (GRCm39) |
critical splice donor site |
probably null |
|
R2193:Frrs1
|
UTSW |
3 |
116,671,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R2851:Frrs1
|
UTSW |
3 |
116,678,778 (GRCm39) |
missense |
probably benign |
0.00 |
R3177:Frrs1
|
UTSW |
3 |
116,692,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R3277:Frrs1
|
UTSW |
3 |
116,692,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R3772:Frrs1
|
UTSW |
3 |
116,672,036 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4457:Frrs1
|
UTSW |
3 |
116,690,377 (GRCm39) |
missense |
probably benign |
0.10 |
R4887:Frrs1
|
UTSW |
3 |
116,696,065 (GRCm39) |
makesense |
probably null |
|
R4957:Frrs1
|
UTSW |
3 |
116,678,897 (GRCm39) |
missense |
probably benign |
0.00 |
R5015:Frrs1
|
UTSW |
3 |
116,672,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R5080:Frrs1
|
UTSW |
3 |
116,696,585 (GRCm39) |
missense |
probably benign |
0.02 |
R5256:Frrs1
|
UTSW |
3 |
116,696,749 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5280:Frrs1
|
UTSW |
3 |
116,674,545 (GRCm39) |
missense |
probably benign |
0.00 |
R5597:Frrs1
|
UTSW |
3 |
116,671,887 (GRCm39) |
start gained |
probably benign |
|
R5887:Frrs1
|
UTSW |
3 |
116,690,399 (GRCm39) |
missense |
probably benign |
0.32 |
R6210:Frrs1
|
UTSW |
3 |
116,672,080 (GRCm39) |
missense |
probably benign |
0.19 |
R6268:Frrs1
|
UTSW |
3 |
116,696,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R6378:Frrs1
|
UTSW |
3 |
116,694,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7165:Frrs1
|
UTSW |
3 |
116,671,920 (GRCm39) |
missense |
probably benign |
0.18 |
R7220:Frrs1
|
UTSW |
3 |
116,674,425 (GRCm39) |
nonsense |
probably null |
|
R7301:Frrs1
|
UTSW |
3 |
116,689,212 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7312:Frrs1
|
UTSW |
3 |
116,675,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R7862:Frrs1
|
UTSW |
3 |
116,685,529 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8032:Frrs1
|
UTSW |
3 |
116,672,009 (GRCm39) |
missense |
probably benign |
0.00 |
R8114:Frrs1
|
UTSW |
3 |
116,675,425 (GRCm39) |
missense |
probably damaging |
0.97 |
R8283:Frrs1
|
UTSW |
3 |
116,671,952 (GRCm39) |
missense |
probably benign |
0.01 |
R8353:Frrs1
|
UTSW |
3 |
116,692,822 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8923:Frrs1
|
UTSW |
3 |
116,696,070 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9302:Frrs1
|
UTSW |
3 |
116,692,899 (GRCm39) |
critical splice donor site |
probably null |
|
R9336:Frrs1
|
UTSW |
3 |
116,684,582 (GRCm39) |
missense |
probably benign |
|
R9455:Frrs1
|
UTSW |
3 |
116,695,972 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0063:Frrs1
|
UTSW |
3 |
116,696,071 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1177:Frrs1
|
UTSW |
3 |
116,675,467 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2013-11-05 |