Incidental Mutation 'R8283:Frrs1'
ID |
638299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frrs1
|
Ensembl Gene |
ENSMUSG00000033386 |
Gene Name |
ferric-chelate reductase 1 |
Synonyms |
Sdfr2 |
MMRRC Submission |
067706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R8283 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116671952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 17
(T17A)
|
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 benign
Transcript: ENSMUST00000040260
AA Change: T17A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000039487 Gene: ENSMUSG00000033386 AA Change: T17A
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: T17A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000143255 Gene: ENSMUSG00000033386 AA Change: T17A
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
AA Change: T17A
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143546 Gene: ENSMUSG00000033386 AA Change: T17A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
C |
T |
5: 8,856,086 (GRCm39) |
P65S |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,250,935 (GRCm39) |
R565W |
probably damaging |
Het |
Arl14 |
A |
T |
3: 69,129,868 (GRCm39) |
N5I |
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,250 (GRCm39) |
E39G |
possibly damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
Boc |
A |
T |
16: 44,340,800 (GRCm39) |
L50Q |
noncoding transcript |
Het |
Calml3 |
A |
G |
13: 3,854,097 (GRCm39) |
V36A |
probably damaging |
Het |
Ccdc183 |
G |
A |
2: 25,502,160 (GRCm39) |
A238V |
probably damaging |
Het |
Ccndbp1 |
A |
G |
2: 120,839,065 (GRCm39) |
|
probably benign |
Het |
Ccr9 |
A |
G |
9: 123,608,696 (GRCm39) |
Y126C |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,804,737 (GRCm39) |
N491S |
probably benign |
Het |
Celsr2 |
C |
T |
3: 108,303,771 (GRCm39) |
G2429D |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,349,457 (GRCm39) |
T84A |
probably damaging |
Het |
Dcpp2 |
T |
C |
17: 24,118,384 (GRCm39) |
|
probably null |
Het |
Drosha |
A |
G |
15: 12,890,587 (GRCm39) |
I945V |
possibly damaging |
Het |
Dsg1b |
A |
G |
18: 20,524,963 (GRCm39) |
Q133R |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,550,554 (GRCm39) |
E174D |
probably benign |
Het |
Esrrb |
A |
G |
12: 86,468,732 (GRCm39) |
H15R |
probably benign |
Het |
Fbxl12 |
T |
C |
9: 20,550,017 (GRCm39) |
T213A |
probably benign |
Het |
Fnbp4 |
C |
A |
2: 90,577,115 (GRCm39) |
T149K |
probably damaging |
Het |
Foxj1 |
A |
T |
11: 116,224,893 (GRCm39) |
F158Y |
probably benign |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Gm45844 |
T |
C |
7: 7,244,901 (GRCm39) |
Y11C |
possibly damaging |
Het |
Hnrnpl |
T |
C |
7: 28,513,697 (GRCm39) |
V220A |
|
Het |
Iars2 |
T |
A |
1: 185,020,288 (GRCm39) |
R949* |
probably null |
Het |
Ice1 |
T |
C |
13: 70,752,549 (GRCm39) |
E1179G |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
Mcmdc2 |
A |
C |
1: 10,004,263 (GRCm39) |
K581T |
possibly damaging |
Het |
Men1 |
A |
T |
19: 6,386,848 (GRCm39) |
D186V |
probably damaging |
Het |
Morc2b |
T |
G |
17: 33,355,675 (GRCm39) |
N699T |
probably benign |
Het |
Mrgpra2b |
A |
G |
7: 47,114,465 (GRCm39) |
L89P |
probably damaging |
Het |
Naip1 |
C |
T |
13: 100,563,695 (GRCm39) |
G490E |
probably damaging |
Het |
Ntm |
T |
C |
9: 28,923,508 (GRCm39) |
Y224C |
probably damaging |
Het |
Nup88 |
A |
T |
11: 70,849,166 (GRCm39) |
D262E |
probably benign |
Het |
Or10ag52 |
T |
C |
2: 87,043,683 (GRCm39) |
V149A |
probably benign |
Het |
Or51l4 |
T |
A |
7: 103,404,019 (GRCm39) |
I258L |
possibly damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Oscp1 |
A |
G |
4: 125,980,393 (GRCm39) |
M293V |
probably benign |
Het |
Pcdhgc3 |
C |
A |
18: 37,940,694 (GRCm39) |
A365D |
probably damaging |
Het |
Pcyt2 |
A |
T |
11: 120,501,548 (GRCm39) |
F388I |
probably benign |
Het |
Pgm2l1 |
C |
G |
7: 99,902,460 (GRCm39) |
A136G |
probably benign |
Het |
Phf14 |
T |
G |
6: 11,987,636 (GRCm39) |
D638E |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,940,935 (GRCm39) |
K1096E |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
Rnf187 |
T |
A |
11: 58,829,241 (GRCm39) |
R124W |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,450,030 (GRCm39) |
Y36H |
probably damaging |
Het |
Setd7 |
T |
G |
3: 51,428,796 (GRCm39) |
S345R |
probably benign |
Het |
Sgms1 |
T |
C |
19: 32,137,035 (GRCm39) |
D177G |
probably damaging |
Het |
Snx19 |
T |
C |
9: 30,374,522 (GRCm39) |
L927S |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,942,294 (GRCm39) |
D977G |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,870,212 (GRCm39) |
R121W |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,291,771 (GRCm39) |
D152G |
probably damaging |
Het |
Suclg2 |
T |
A |
6: 95,474,700 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
C |
7: 130,227,034 (GRCm39) |
S1240P |
probably benign |
Het |
Tbc1d12 |
C |
T |
19: 38,825,353 (GRCm39) |
A68V |
probably benign |
Het |
Tex14 |
G |
A |
11: 87,365,241 (GRCm39) |
D62N |
probably damaging |
Het |
Thyn1 |
C |
T |
9: 26,918,155 (GRCm39) |
T181I |
probably benign |
Het |
Trio |
T |
A |
15: 27,756,628 (GRCm39) |
H2056L |
possibly damaging |
Het |
Ubn2 |
T |
A |
6: 38,475,663 (GRCm39) |
L1207Q |
probably damaging |
Het |
Usp17lb |
T |
C |
7: 104,490,013 (GRCm39) |
S305G |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,253 (GRCm39) |
Y750N |
probably damaging |
Het |
Wif1 |
G |
A |
10: 120,931,952 (GRCm39) |
S292N |
probably benign |
Het |
Xpo6 |
T |
G |
7: 125,727,421 (GRCm39) |
Q528H |
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 |
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'- CACAGTTGGTGTTTGGTAAACCAG -3'
(R):5'- ATGCAGATCATTATCTCCAGCACTC -3'
Sequencing Primer
(F):5'- GGTAAACCAGCTTTAGATCAGGTACC -3'
(R):5'- AGCACTCATACCTTTGATCTGG -3'
|
Posted On |
2020-07-28 |