Incidental Mutation 'R1534:Frrs1'
ID |
166811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frrs1
|
Ensembl Gene |
ENSMUSG00000033386 |
Gene Name |
ferric-chelate reductase 1 |
Synonyms |
Sdfr2 |
MMRRC Submission |
039573-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R1534 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116672057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 52
(T52S)
|
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: T52S
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000039487 Gene: ENSMUSG00000033386 AA Change: T52S
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: T52S
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143255 Gene: ENSMUSG00000033386 AA Change: T52S
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: T52S
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143546 Gene: ENSMUSG00000033386 AA Change: T52S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
98% (52/53) |
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 |
Adcy10 |
T |
C |
1: 165,345,881 (GRCm39) |
I310T |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,073,629 (GRCm39) |
V469A |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,261,141 (GRCm39) |
C652Y |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,413,977 (GRCm39) |
V133M |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,706,757 (GRCm39) |
T448A |
probably benign |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
B4galt2 |
T |
C |
4: 117,734,669 (GRCm39) |
H233R |
probably damaging |
Het |
Bpifb5 |
T |
G |
2: 154,071,419 (GRCm39) |
Y249D |
possibly damaging |
Het |
Brd1 |
T |
C |
15: 88,573,866 (GRCm39) |
I1078V |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,726,083 (GRCm39) |
E3104G |
probably damaging |
Het |
Cyp2c69 |
T |
A |
19: 39,839,593 (GRCm39) |
K343N |
probably benign |
Het |
Cyp4f18 |
T |
A |
8: 72,746,799 (GRCm39) |
D331V |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,755,378 (GRCm39) |
V261A |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,247 (GRCm39) |
D391G |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
C |
3: 38,944,238 (GRCm39) |
F1044L |
probably damaging |
Het |
Gan |
G |
A |
8: 117,914,168 (GRCm39) |
V189I |
probably benign |
Het |
Hnf1b |
A |
G |
11: 83,784,409 (GRCm39) |
|
probably benign |
Het |
Itgae |
T |
C |
11: 73,036,431 (GRCm39) |
I1123T |
possibly damaging |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lrrc18 |
A |
G |
14: 32,730,478 (GRCm39) |
K6E |
possibly damaging |
Het |
Map2 |
G |
A |
1: 66,452,339 (GRCm39) |
V492I |
probably benign |
Het |
Mtr |
A |
T |
13: 12,250,430 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
T |
11: 62,269,330 (GRCm39) |
A689E |
possibly damaging |
Het |
Or52n2c |
G |
A |
7: 104,574,621 (GRCm39) |
L117F |
possibly damaging |
Het |
Or5w22 |
T |
A |
2: 87,363,016 (GRCm39) |
V213D |
probably damaging |
Het |
Palm |
T |
G |
10: 79,652,737 (GRCm39) |
V42G |
probably damaging |
Het |
Pcm1 |
G |
A |
8: 41,740,738 (GRCm39) |
V995I |
probably benign |
Het |
Pfkp |
A |
G |
13: 6,669,574 (GRCm39) |
V215A |
probably damaging |
Het |
Prkg2 |
T |
C |
5: 99,142,420 (GRCm39) |
Y238C |
probably damaging |
Het |
Prr14 |
C |
T |
7: 127,073,154 (GRCm39) |
A167V |
probably benign |
Het |
Ptprn |
A |
C |
1: 75,234,587 (GRCm39) |
|
probably null |
Het |
Rexo2 |
A |
T |
9: 48,380,190 (GRCm39) |
I214N |
probably damaging |
Het |
Rrbp1 |
A |
G |
2: 143,830,233 (GRCm39) |
S645P |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Satb2 |
A |
T |
1: 56,987,392 (GRCm39) |
C64* |
probably null |
Het |
Sez6 |
A |
G |
11: 77,853,871 (GRCm39) |
Y347C |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,663,729 (GRCm39) |
I585T |
probably damaging |
Het |
Spg11 |
G |
A |
2: 121,922,806 (GRCm39) |
T881M |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,664,396 (GRCm39) |
|
probably null |
Het |
Tlcd5 |
A |
G |
9: 43,022,923 (GRCm39) |
W126R |
probably damaging |
Het |
Top1 |
T |
C |
2: 160,556,152 (GRCm39) |
I537T |
probably damaging |
Het |
Trappc6a |
A |
G |
7: 19,248,138 (GRCm39) |
S33G |
probably benign |
Het |
Tspan11 |
G |
C |
6: 127,926,768 (GRCm39) |
V239L |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,155,462 (GRCm39) |
V2190A |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,896,806 (GRCm39) |
D9G |
possibly damaging |
Het |
Uty |
A |
G |
Y: 1,245,440 (GRCm39) |
V35A |
probably benign |
Het |
Vmn2r56 |
A |
G |
7: 12,427,954 (GRCm39) |
S771P |
probably benign |
Het |
Wars2 |
C |
T |
3: 99,124,177 (GRCm39) |
A346V |
probably damaging |
Het |
Wdr87-ps |
G |
T |
7: 29,229,854 (GRCm39) |
|
noncoding transcript |
Het |
Zfp142 |
G |
T |
1: 74,611,247 (GRCm39) |
N849K |
probably benign |
Het |
Zfp180 |
A |
T |
7: 23,800,948 (GRCm39) |
N66I |
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 |
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 |
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'- CGGCTCCCCAGATCACCCTCAG -3'
(R):5'- TGCCAgcagggatgacgcac -3'
Sequencing Primer
(F):5'- AGATCACCCTCAGTGTCCTTG -3'
(R):5'- aaaaaaaaggattgtaggaggagg -3'
|
Posted On |
2014-04-13 |