Incidental Mutation 'R8353:Frrs1'
| ID |
660519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frrs1
|
| Ensembl Gene |
ENSMUSG00000033386 |
| Gene Name |
ferric-chelate reductase 1 |
| Synonyms |
Sdfr2 |
| MMRRC Submission |
067805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R8353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116692822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 32
(M32K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142793
(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: M416K
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: M416K
| 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: M416K
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: M416K
| 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 |
possibly damaging
Transcript: ENSMUST00000199030
AA Change: M32K
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386
AA Change: M32K
| 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: 99.4%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,310,659 (GRCm39) |
T752A |
probably damaging |
Het |
| Adar |
A |
G |
3: 89,657,569 (GRCm39) |
T508A |
possibly damaging |
Het |
| Atxn3 |
T |
A |
12: 101,912,159 (GRCm39) |
K85I |
probably benign |
Het |
| Atxn7l1 |
G |
T |
12: 33,197,882 (GRCm39) |
W50L |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,165,251 (GRCm39) |
V894A |
probably damaging |
Het |
| Bloc1s3 |
G |
T |
7: 19,241,324 (GRCm39) |
T68K |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,855,877 (GRCm39) |
|
probably null |
Het |
| Brd10 |
T |
C |
19: 29,731,242 (GRCm39) |
H590R |
possibly damaging |
Het |
| C130073F10Rik |
C |
T |
4: 101,747,881 (GRCm39) |
|
probably null |
Het |
| Cd55b |
T |
C |
1: 130,341,870 (GRCm39) |
I256V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,703,734 (GRCm39) |
D72E |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,658,891 (GRCm39) |
D152G |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,821,436 (GRCm39) |
Q181* |
probably null |
Het |
| Cpne8 |
C |
A |
15: 90,425,496 (GRCm39) |
K285N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,813,349 (GRCm39) |
I1061K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,805,953 (GRCm39) |
N2255Y |
probably damaging |
Het |
| Cym |
T |
A |
3: 107,129,025 (GRCm39) |
|
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,336,720 (GRCm39) |
V23A |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,005,159 (GRCm39) |
I2365K |
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,054,957 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
T |
9: 86,403,639 (GRCm39) |
H1613L |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,518,113 (GRCm39) |
V122A |
possibly damaging |
Het |
| Emc6 |
A |
G |
11: 73,067,399 (GRCm39) |
L44P |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,422,678 (GRCm39) |
T80K |
probably benign |
Het |
| Gfod1 |
A |
G |
13: 43,354,366 (GRCm39) |
V203A |
possibly damaging |
Het |
| Gjc2 |
G |
A |
11: 59,067,840 (GRCm39) |
A214V |
unknown |
Het |
| Gkn2 |
T |
C |
6: 87,355,135 (GRCm39) |
Y115H |
probably damaging |
Het |
| Gpatch1 |
A |
C |
7: 34,976,704 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,403,935 (GRCm39) |
P20Q |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,571 (GRCm39) |
V4849L |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,275,353 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
A |
5: 35,034,499 (GRCm39) |
T1990N |
possibly damaging |
Het |
| Jrk |
C |
T |
15: 74,578,474 (GRCm39) |
W270* |
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,822,072 (GRCm39) |
D266G |
probably damaging |
Het |
| Klhl42 |
A |
G |
6: 147,009,421 (GRCm39) |
K420R |
probably damaging |
Het |
| Lamb1 |
C |
A |
12: 31,356,998 (GRCm39) |
T1035K |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,656,079 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,240,971 (GRCm39) |
S22P |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,568,505 (GRCm39) |
N825S |
possibly damaging |
Het |
| Mup17 |
C |
T |
4: 61,510,419 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
T |
A |
9: 26,983,100 (GRCm39) |
D949E |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,570,155 (GRCm39) |
E230G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,015,512 (GRCm39) |
V132A |
probably damaging |
Het |
| Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
| Pabpc4 |
T |
G |
4: 123,189,846 (GRCm39) |
L555R |
probably benign |
Het |
| Ppp1r11 |
G |
T |
17: 37,260,866 (GRCm39) |
S21R |
possibly damaging |
Het |
| Prr36 |
T |
C |
8: 4,263,831 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
T |
A |
12: 103,822,038 (GRCm39) |
D298V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,196,314 (GRCm39) |
H369L |
possibly damaging |
Het |
| Stambp |
T |
C |
6: 83,538,881 (GRCm39) |
E173G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,300,983 (GRCm39) |
N915S |
probably damaging |
Het |
| Tjap1 |
C |
A |
17: 46,593,530 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,814,817 (GRCm39) |
K30T |
probably damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,327,346 (GRCm39) |
T56A |
probably benign |
Het |
| Trav6-4 |
A |
T |
14: 53,691,946 (GRCm39) |
M18L |
probably benign |
Het |
| Trim69 |
T |
C |
2: 121,998,490 (GRCm39) |
I154T |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,209,377 (GRCm39) |
|
probably null |
Het |
| Usp48 |
T |
A |
4: 137,350,693 (GRCm39) |
M60K |
probably benign |
Het |
| Usp7 |
A |
G |
16: 8,513,735 (GRCm39) |
S753P |
probably benign |
Het |
| Vmn2r27 |
A |
C |
6: 124,169,404 (GRCm39) |
N575K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,695,581 (GRCm39) |
D2672E |
probably benign |
Het |
| Zdhhc17 |
G |
A |
10: 110,845,803 (GRCm39) |
P30L |
probably benign |
Het |
| Zmym4 |
T |
A |
4: 126,800,905 (GRCm39) |
Y565F |
possibly 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 |
|
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'- AGATATGCGTTCCTGCCTCTG -3'
(R):5'- CAGAAATGTCTCATTATCCACCTCTG -3'
Sequencing Primer
(F):5'- CTGCCTCTGTGAGTAGGCAAAG -3'
(R):5'- TTATCCACCTCTGAGGGTAAAACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation