Incidental Mutation 'R6210:Frrs1'
ID |
503390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frrs1
|
Ensembl Gene |
ENSMUSG00000033386 |
Gene Name |
ferric-chelate reductase 1 |
Synonyms |
Sdfr2 |
MMRRC Submission |
044344-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R6210 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116672080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 59
(K59N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143546
(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: K59N
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000039487 Gene: ENSMUSG00000033386 AA Change: K59N
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: K59N
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143255 Gene: ENSMUSG00000033386 AA Change: K59N
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: K59N
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143546 Gene: ENSMUSG00000033386 AA Change: K59N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
95% (52/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
Hephl1 |
A |
G |
9: 15,001,860 (GRCm39) |
Y161H |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
Pah |
C |
A |
10: 87,419,423 (GRCm39) |
Q449K |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,263,839 (GRCm39) |
V271A |
probably damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Psg21 |
A |
G |
7: 18,386,270 (GRCm39) |
Y239H |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,819,647 (GRCm39) |
L653P |
probably damaging |
Het |
Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,656,731 (GRCm39) |
D719E |
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
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 |
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'- GCTCCCCAGATCACCCTCAG -3'
(R):5'- CTCAACAAATACTGAGAGAATCTAGC -3'
Sequencing Primer
(F):5'- ACCCTCAGTGTCCTTGTGATTG -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'
|
Posted On |
2018-02-27 |