Incidental Mutation 'R1880:Frrs1'
| ID |
209021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frrs1
|
| Ensembl Gene |
ENSMUSG00000033386 |
| Gene Name |
ferric-chelate reductase 1 |
| Synonyms |
Sdfr2 |
| MMRRC Submission |
039901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R1880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 116690444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000195905]
[ENSMUST00000199030]
[ENSMUST00000199030]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000197323
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199030
|
| SMART Domains |
Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386
| Domain | Start | End | E-Value | Type |
|---|
|
B561
|
1 |
99 |
1.5e-7 |
SMART |
|
| Predicted Effect |
probably null
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 |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,072,615 (GRCm39) |
D846G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Atp10b |
G |
T |
11: 43,150,259 (GRCm39) |
G1319V |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,473,973 (GRCm39) |
T315A |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,695,523 (GRCm39) |
L1323F |
probably benign |
Het |
| Btnl2 |
A |
G |
17: 34,584,337 (GRCm39) |
E420G |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,316,581 (GRCm39) |
W293R |
probably damaging |
Het |
| Cd209f |
A |
G |
8: 4,155,464 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,394 (GRCm39) |
K1259R |
unknown |
Het |
| Dpysl3 |
A |
T |
18: 43,462,939 (GRCm39) |
|
probably null |
Het |
| Dus4l |
T |
C |
12: 31,690,869 (GRCm39) |
I261V |
probably benign |
Het |
| Ell3 |
T |
C |
2: 121,270,792 (GRCm39) |
D247G |
probably benign |
Het |
| Erg |
G |
A |
16: 95,178,168 (GRCm39) |
T246I |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,694,303 (GRCm39) |
I196T |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,661 (GRCm39) |
D182G |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gata4 |
G |
T |
14: 63,442,144 (GRCm39) |
P20Q |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,784,361 (GRCm39) |
D48G |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,306,260 (GRCm39) |
I481V |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,432,523 (GRCm39) |
V380A |
possibly damaging |
Het |
| Hspa2 |
G |
A |
12: 76,452,694 (GRCm39) |
D463N |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,585,231 (GRCm39) |
D2G |
probably benign |
Het |
| Kel |
G |
A |
6: 41,664,479 (GRCm39) |
L653F |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,184 (GRCm39) |
Y748C |
probably damaging |
Het |
| Lpxn |
A |
G |
19: 12,781,452 (GRCm39) |
K57E |
probably benign |
Het |
| Ltbp2 |
G |
T |
12: 84,876,045 (GRCm39) |
H501N |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,332,384 (GRCm39) |
A2419V |
probably damaging |
Het |
| Map3k12 |
A |
G |
15: 102,410,499 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,034,285 (GRCm39) |
V668I |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,505,575 (GRCm39) |
S280P |
probably benign |
Het |
| Neb |
C |
A |
2: 52,148,743 (GRCm39) |
M2601I |
probably damaging |
Het |
| Nsd1 |
T |
A |
13: 55,361,606 (GRCm39) |
N191K |
probably damaging |
Het |
| Or2w1 |
A |
T |
13: 21,317,802 (GRCm39) |
N286Y |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5w14 |
C |
A |
2: 87,541,639 (GRCm39) |
G204C |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,290 (GRCm39) |
F10L |
probably benign |
Het |
| Patj |
C |
T |
4: 98,385,477 (GRCm39) |
P364S |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,655,770 (GRCm39) |
V39A |
probably benign |
Het |
| Pira13 |
C |
T |
7: 3,827,950 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,388,638 (GRCm39) |
I1332F |
probably benign |
Het |
| Polq |
T |
C |
16: 36,906,954 (GRCm39) |
V2026A |
possibly damaging |
Het |
| Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,571,294 (GRCm39) |
Y678N |
possibly damaging |
Het |
| Rpf2 |
T |
C |
10: 40,109,154 (GRCm39) |
D95G |
possibly damaging |
Het |
| Sema3c |
A |
T |
5: 17,932,464 (GRCm39) |
K656* |
probably null |
Het |
| Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
| Snap25 |
G |
A |
2: 136,619,305 (GRCm39) |
V153M |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,026,786 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
T |
6: 42,193,004 (GRCm39) |
T248I |
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,727,695 (GRCm39) |
E346G |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,698 (GRCm39) |
S206C |
probably damaging |
Het |
| Vps36 |
T |
C |
8: 22,703,578 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,065,301 (GRCm39) |
N1289S |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,276 (GRCm39) |
C276R |
probably damaging |
Het |
| Zkscan17 |
G |
A |
11: 59,378,455 (GRCm39) |
Q243* |
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 |
|
R1596:Frrs1
|
UTSW |
3 |
116,676,848 (GRCm39) |
intron |
probably benign |
|
|
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'- GCAGCTTTCCACTGTGTCAC -3'
(R):5'- AGACCTACAATAGCTGTAATTGGG -3'
Sequencing Primer
(F):5'- TTCCACTGTGTCACGGGTGC -3'
(R):5'- CCAGCAATATGGCTTAGTGGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation