Incidental Mutation 'R1596:Frrs1'
ID |
175791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frrs1
|
Ensembl Gene |
ENSMUSG00000033386 |
Gene Name |
ferric-chelate reductase 1 |
Synonyms |
Sdfr2 |
MMRRC Submission |
039633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R1596 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 116676848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000199626]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040260
|
SMART Domains |
Protein: ENSMUSP00000039487 Gene: ENSMUSG00000033386
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
|
SMART Domains |
Protein: ENSMUSP00000143255 Gene: ENSMUSG00000033386
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 |
probably benign
Transcript: ENSMUST00000199626
|
SMART Domains |
Protein: ENSMUSP00000143546 Gene: ENSMUSG00000033386
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.7%
|
Validation Efficiency |
97% (70/72) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
A |
G |
15: 37,426,018 (GRCm39) |
|
probably benign |
Het |
Abca8a |
T |
A |
11: 109,958,886 (GRCm39) |
Y745F |
possibly damaging |
Het |
Abl1 |
A |
G |
2: 31,680,350 (GRCm39) |
N316S |
probably damaging |
Het |
Ackr2 |
T |
C |
9: 121,738,278 (GRCm39) |
F218L |
probably damaging |
Het |
Adam6b |
T |
A |
12: 113,454,646 (GRCm39) |
Y488N |
probably damaging |
Het |
Arhgap10 |
A |
G |
8: 78,177,326 (GRCm39) |
I103T |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,364,678 (GRCm39) |
V2669A |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,126,594 (GRCm39) |
K1117E |
probably damaging |
Het |
Brinp3 |
T |
C |
1: 146,390,520 (GRCm39) |
V22A |
probably benign |
Het |
Casp8 |
G |
T |
1: 58,870,833 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
T |
A |
18: 22,153,930 (GRCm39) |
K626N |
possibly damaging |
Het |
Clcn6 |
T |
A |
4: 148,107,836 (GRCm39) |
S193C |
probably damaging |
Het |
Col11a1 |
C |
T |
3: 113,946,262 (GRCm39) |
|
probably benign |
Het |
Csn1s2b |
T |
A |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
Cst5 |
T |
C |
2: 149,247,329 (GRCm39) |
V15A |
unknown |
Het |
Cttnbp2 |
A |
G |
6: 18,408,591 (GRCm39) |
F1010S |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
Dsg1c |
A |
G |
18: 20,415,104 (GRCm39) |
Y667C |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,856,727 (GRCm39) |
|
probably benign |
Het |
Fam83c |
C |
T |
2: 155,672,982 (GRCm39) |
|
probably null |
Het |
Fbxw20 |
C |
T |
9: 109,050,368 (GRCm39) |
C419Y |
probably damaging |
Het |
Fgd2 |
G |
A |
17: 29,595,904 (GRCm39) |
V521I |
probably benign |
Het |
Gli3 |
C |
A |
13: 15,900,056 (GRCm39) |
Q1148K |
possibly damaging |
Het |
Hdac5 |
G |
T |
11: 102,095,482 (GRCm39) |
|
probably null |
Het |
Ice1 |
C |
T |
13: 70,753,014 (GRCm39) |
R1024H |
possibly damaging |
Het |
Irak3 |
A |
T |
10: 120,018,451 (GRCm39) |
I99N |
probably damaging |
Het |
Klhl31 |
A |
G |
9: 77,557,356 (GRCm39) |
D24G |
probably damaging |
Het |
Lrba |
C |
T |
3: 86,257,611 (GRCm39) |
Q1292* |
probably null |
Het |
Map1a |
C |
T |
2: 121,120,246 (GRCm39) |
A44V |
probably benign |
Het |
Mbd2 |
T |
A |
18: 70,749,703 (GRCm39) |
M306K |
probably damaging |
Het |
Mrc1 |
C |
T |
2: 14,253,701 (GRCm39) |
H241Y |
possibly damaging |
Het |
Mrgprg |
A |
G |
7: 143,318,431 (GRCm39) |
F227S |
possibly damaging |
Het |
Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
Ncf4 |
G |
A |
15: 78,134,637 (GRCm39) |
E30K |
probably damaging |
Het |
Nlrp4c |
C |
A |
7: 6,069,777 (GRCm39) |
D559E |
probably benign |
Het |
Nxpe4 |
T |
A |
9: 48,307,855 (GRCm39) |
W320R |
probably damaging |
Het |
Or10a3n |
T |
A |
7: 108,493,086 (GRCm39) |
H176L |
probably damaging |
Het |
Or52n4b |
T |
A |
7: 108,144,290 (GRCm39) |
M184K |
possibly damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,514 (GRCm39) |
L135P |
probably damaging |
Het |
Pdzrn3 |
A |
G |
6: 101,127,966 (GRCm39) |
V900A |
probably benign |
Het |
Prcp |
T |
C |
7: 92,567,042 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
A |
T |
4: 104,893,526 (GRCm39) |
D474E |
probably damaging |
Het |
Prl3a1 |
A |
G |
13: 27,443,600 (GRCm39) |
|
probably benign |
Het |
Ptpra |
T |
A |
2: 130,386,872 (GRCm39) |
Y624N |
probably damaging |
Het |
Ramp1 |
T |
C |
1: 91,151,022 (GRCm39) |
V129A |
possibly damaging |
Het |
Reep1 |
G |
T |
6: 71,733,421 (GRCm39) |
|
probably null |
Het |
Robo3 |
C |
T |
9: 37,335,928 (GRCm39) |
|
probably null |
Het |
Sapcd2 |
T |
A |
2: 25,266,422 (GRCm39) |
I403N |
probably damaging |
Het |
Sdk2 |
T |
A |
11: 113,729,435 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
T |
C |
1: 106,974,904 (GRCm39) |
M210V |
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,909,267 (GRCm39) |
I488N |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,648,867 (GRCm39) |
P1513S |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,195,358 (GRCm39) |
H1127Q |
possibly damaging |
Het |
Trim67 |
T |
C |
8: 125,552,878 (GRCm39) |
V660A |
probably damaging |
Het |
Ubash3b |
A |
G |
9: 40,942,793 (GRCm39) |
I233T |
probably benign |
Het |
Unkl |
A |
G |
17: 25,424,707 (GRCm39) |
R245G |
probably null |
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 |
|
IGL01395:Frrs1
|
APN |
3 |
116,694,654 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCGTTAGAGACTTGCTCCACGC -3'
(R):5'- CTGCATGACCGAAGAGGGCATC -3'
Sequencing Primer
(F):5'- AGACTTGCTCCACGCATGAG -3'
(R):5'- GGCATCAGACAAAAAAAGAGCATC -3'
|
Posted On |
2014-04-24 |