Incidental Mutation 'R9455:Frrs1'
ID |
714520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frrs1
|
Ensembl Gene |
ENSMUSG00000033386 |
Gene Name |
ferric-chelate reductase 1 |
Synonyms |
Sdfr2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R9455 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116695972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 497
(M497K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000199030]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040260
AA Change: M497K
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039487 Gene: ENSMUSG00000033386 AA Change: M497K
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 |
possibly damaging
Transcript: ENSMUST00000195905
AA Change: M497K
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143255 Gene: ENSMUSG00000033386 AA Change: M497K
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: ENSMUST00000199030
AA Change: N93K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000142793 Gene: ENSMUSG00000033386 AA Change: N93K
Domain | Start | End | E-Value | Type |
B561
|
1 |
99 |
1.5e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,353,897 (GRCm39) |
Y3740H |
probably damaging |
Het |
Acsl6 |
G |
T |
11: 54,210,752 (GRCm39) |
|
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,667,017 (GRCm39) |
D492N |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,219,296 (GRCm39) |
E1218G |
probably damaging |
Het |
Bcl2l15 |
C |
T |
3: 103,743,369 (GRCm39) |
T90I |
unknown |
Het |
Bsn |
A |
G |
9: 107,988,531 (GRCm39) |
V2407A |
unknown |
Het |
Casp8ap2 |
T |
C |
4: 32,643,924 (GRCm39) |
M999T |
possibly damaging |
Het |
Ccdc66 |
G |
A |
14: 27,208,872 (GRCm39) |
P461S |
probably benign |
Het |
Cd46 |
G |
A |
1: 194,744,704 (GRCm39) |
L345F |
possibly damaging |
Het |
Cep295 |
A |
T |
9: 15,245,046 (GRCm39) |
S1137T |
possibly damaging |
Het |
Chd7 |
A |
G |
4: 8,752,061 (GRCm39) |
Y186C |
unknown |
Het |
Clca3b |
T |
A |
3: 144,529,023 (GRCm39) |
T884S |
unknown |
Het |
Cndp2 |
T |
A |
18: 84,690,246 (GRCm39) |
Y232F |
probably benign |
Het |
Cx3cr1 |
A |
T |
9: 119,880,659 (GRCm39) |
Y248N |
probably damaging |
Het |
Dnm3 |
A |
T |
1: 162,148,524 (GRCm39) |
N282K |
possibly damaging |
Het |
Emilin2 |
T |
C |
17: 71,581,485 (GRCm39) |
I414V |
probably benign |
Het |
F3 |
A |
T |
3: 121,527,866 (GRCm39) |
N288I |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,945,412 (GRCm39) |
L1435P |
|
Het |
Fbxw14 |
A |
T |
9: 109,103,567 (GRCm39) |
N371K |
probably benign |
Het |
Firrm |
G |
T |
1: 163,781,721 (GRCm39) |
T902K |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,647,112 (GRCm39) |
E1559D |
probably benign |
Het |
Gm45861 |
C |
T |
8: 28,041,394 (GRCm39) |
Q1000* |
probably null |
Het |
Gpr152 |
T |
C |
19: 4,193,844 (GRCm39) |
S462P |
probably benign |
Het |
Irgq |
A |
G |
7: 24,231,217 (GRCm39) |
N136S |
probably benign |
Het |
Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
Klf12 |
A |
T |
14: 100,347,226 (GRCm39) |
L35H |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Ksr1 |
A |
T |
11: 78,911,602 (GRCm39) |
C727S |
possibly damaging |
Het |
Lpin3 |
G |
T |
2: 160,737,259 (GRCm39) |
R102L |
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,058,117 (GRCm39) |
E229G |
probably damaging |
Het |
Ly6f |
T |
A |
15: 75,141,648 (GRCm39) |
Y30* |
probably null |
Het |
Map2k7 |
C |
G |
8: 4,293,957 (GRCm39) |
R168G |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,805,867 (GRCm39) |
E100G |
probably benign |
Het |
Mrgpra6 |
T |
A |
7: 46,838,967 (GRCm39) |
Y46F |
probably damaging |
Het |
Mroh6 |
C |
A |
15: 75,759,905 (GRCm39) |
R143L |
probably benign |
Het |
Myom2 |
T |
A |
8: 15,156,293 (GRCm39) |
H713Q |
probably benign |
Het |
Ndn |
C |
T |
7: 61,998,337 (GRCm39) |
P61L |
possibly damaging |
Het |
Or51b6 |
G |
T |
7: 103,556,200 (GRCm39) |
V182F |
|
Het |
Pear1 |
T |
A |
3: 87,666,488 (GRCm39) |
T72S |
possibly damaging |
Het |
Sel1l3 |
T |
A |
5: 53,289,157 (GRCm39) |
N888I |
probably damaging |
Het |
Sell |
A |
T |
1: 163,894,218 (GRCm39) |
T171S |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,585,907 (GRCm39) |
M1K |
probably null |
Het |
Sin3b |
G |
T |
8: 73,450,681 (GRCm39) |
A37S |
possibly damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,434,399 (GRCm39) |
F723S |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,863,588 (GRCm39) |
T724A |
probably damaging |
Het |
Slc51a |
T |
G |
16: 32,305,013 (GRCm39) |
N25H |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,668,612 (GRCm39) |
F752L |
probably benign |
Het |
Slco4a1 |
A |
C |
2: 180,115,370 (GRCm39) |
D649A |
probably benign |
Het |
Tax1bp1 |
T |
A |
6: 52,743,029 (GRCm39) |
H805Q |
probably damaging |
Het |
Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
Tsg101 |
A |
T |
7: 46,563,151 (GRCm39) |
D34E |
probably damaging |
Het |
Tspoap1 |
T |
C |
11: 87,661,359 (GRCm39) |
S604P |
probably damaging |
Het |
Ttll2 |
C |
A |
17: 7,619,692 (GRCm39) |
W78C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,749,334 (GRCm39) |
F3905S |
possibly damaging |
Het |
Txnrd2 |
G |
T |
16: 18,248,615 (GRCm39) |
C57F |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,837,452 (GRCm39) |
D2697E |
probably damaging |
Het |
Vwa8 |
G |
A |
14: 79,300,115 (GRCm39) |
V983I |
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 |
|
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 |
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 |
|
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'- GACCAAATAATCTTAGCCCTAAAGAT -3'
(R):5'- CTCACAGGCACACATGGGG -3'
Sequencing Primer
(F):5'- GCCCTAAAGattattttttcataaa -3'
(R):5'- TCACTGAACTTCAAGCTGGG -3'
|
Posted On |
2022-06-15 |