Incidental Mutation 'R7312:Frrs1'
| ID |
567652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frrs1
|
| Ensembl Gene |
ENSMUSG00000033386 |
| Gene Name |
ferric-chelate reductase 1 |
| Synonyms |
Sdfr2 |
| MMRRC Submission |
045410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R7312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116675426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 118
(T118I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000199626]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040260
AA Change: T118I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: T118I
| 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 damaging
Transcript: ENSMUST00000195905
AA Change: T118I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: T118I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,969,021 (GRCm39) |
S215P |
probably benign |
Het |
| Ano2 |
C |
T |
6: 126,016,460 (GRCm39) |
Q998* |
probably null |
Het |
| Atg9a |
A |
T |
1: 75,164,736 (GRCm39) |
V76E |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 119,034,172 (GRCm39) |
I118M |
|
Het |
| Cacna1g |
T |
A |
11: 94,323,383 (GRCm39) |
I1274F |
probably damaging |
Het |
| Cd300lg |
C |
T |
11: 101,937,767 (GRCm39) |
A199V |
probably benign |
Het |
| Cfap61 |
C |
T |
2: 145,887,390 (GRCm39) |
R612* |
probably null |
Het |
| Cpeb4 |
A |
T |
11: 31,881,417 (GRCm39) |
Y692F |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,940 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,398,579 (GRCm39) |
M188K |
probably benign |
Het |
| Dmgdh |
A |
G |
13: 93,845,354 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,330,652 (GRCm39) |
M275K |
probably benign |
Het |
| Erp29 |
G |
T |
5: 121,583,392 (GRCm39) |
A178D |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,308,594 (GRCm39) |
N156S |
possibly damaging |
Het |
| Frrs1l |
A |
G |
4: 56,968,230 (GRCm39) |
W181R |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,482 (GRCm39) |
W129L |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,593 (GRCm39) |
H170R |
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,333,617 (GRCm39) |
D221N |
probably benign |
Het |
| Lmo1 |
T |
C |
7: 108,742,819 (GRCm39) |
N28S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,006,525 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,400,130 (GRCm39) |
F722I |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,772 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
A |
G |
10: 29,073,240 (GRCm39) |
Y844C |
probably damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,071,855 (GRCm39) |
T223M |
possibly damaging |
Het |
| Mup21 |
A |
G |
4: 62,068,468 (GRCm39) |
V66A |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,111,672 (GRCm39) |
A726D |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nudt21 |
A |
T |
8: 94,746,227 (GRCm39) |
V157D |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,639,806 (GRCm39) |
I52T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,442 (GRCm39) |
D4421G |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,801 (GRCm39) |
I106M |
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,912,106 (GRCm39) |
V139E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,403 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,853,793 (GRCm39) |
L63P |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,505,706 (GRCm39) |
Y261F |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,755 (GRCm39) |
C71G |
possibly damaging |
Het |
| Orai2 |
T |
A |
5: 136,179,437 (GRCm39) |
I199F |
probably damaging |
Het |
| P2rx5 |
C |
A |
11: 73,055,692 (GRCm39) |
L50M |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,416,634 (GRCm39) |
E215G |
possibly damaging |
Het |
| Pds5a |
A |
T |
5: 65,823,570 (GRCm39) |
S74T |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,666,785 (GRCm39) |
S1105G |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,891,888 (GRCm39) |
D189E |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pnlip |
T |
A |
19: 58,670,134 (GRCm39) |
V458D |
probably damaging |
Het |
| Ppm1l |
G |
A |
3: 69,225,044 (GRCm39) |
V49I |
probably benign |
Het |
| Prl3b1 |
T |
A |
13: 27,426,473 (GRCm39) |
M1K |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,367 (GRCm39) |
C265S |
probably benign |
Het |
| Rnaset2b |
C |
T |
17: 7,265,427 (GRCm39) |
S237F |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,672 (GRCm39) |
A56T |
unknown |
Het |
| S1pr2 |
T |
C |
9: 20,879,238 (GRCm39) |
I197V |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,281,082 (GRCm39) |
Q185R |
probably benign |
Het |
| Sox5 |
T |
A |
6: 144,100,759 (GRCm39) |
T77S |
probably benign |
Het |
| Sox7 |
A |
G |
14: 64,185,291 (GRCm39) |
Y109C |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,954,676 (GRCm39) |
V25I |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,545,922 (GRCm39) |
R898C |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,173 (GRCm39) |
E158V |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,562,875 (GRCm39) |
R614L |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,345 (GRCm39) |
M372L |
probably benign |
Het |
| Zfp28 |
G |
T |
7: 6,386,593 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,759 (GRCm39) |
H231Q |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,634,867 (GRCm39) |
S459P |
probably benign |
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 |
|
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'- AATTACTTGAGACATGTTAGTATGCAC -3'
(R):5'- AAGTCTTCGATCAGTAAGTCCTT -3'
Sequencing Primer
(F):5'- TGGTCTACAGAGCTAGTCTCAGAC -3'
(R):5'- GTAAGTCCTTACTACAAAAGCTTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation