Incidental Mutation 'R4957:Frrs1'
| ID |
381632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frrs1
|
| Ensembl Gene |
ENSMUSG00000033386 |
| Gene Name |
ferric-chelate reductase 1 |
| Synonyms |
Sdfr2 |
| MMRRC Submission |
042554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116859464-116908177 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116885248 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 240
(D240N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143255
(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: D240N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: D240N
| 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: D240N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: D240N
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (80/81) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,169,110 |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,169,119 |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,169,120 |
|
probably benign |
Het |
| 6820408C15Rik |
T |
A |
2: 152,444,093 |
V342D |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,532,361 |
G101R |
probably damaging |
Het |
| Atf7ip |
C |
T |
6: 136,606,810 |
R1280C |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,558,291 |
H8R |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,364,868 |
|
probably benign |
Het |
| Cd163l1 |
T |
C |
7: 140,228,522 |
V782A |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,809,037 |
N113D |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,193,605 |
V341A |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,612,428 |
I310T |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,611,196 |
I245N |
possibly damaging |
Het |
| Creb5 |
A |
T |
6: 53,693,922 |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 4,117,367 |
Q460R |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,074,298 |
I2306N |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,658,126 |
T3700N |
probably damaging |
Het |
| Elovl1 |
A |
T |
4: 118,431,923 |
H215L |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 105,704,489 |
I202T |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,892 |
A407V |
probably damaging |
Het |
| Ercc3 |
G |
T |
18: 32,243,117 |
G130W |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,268,195 |
E113G |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,273,099 |
N339K |
probably damaging |
Het |
| Gemin2 |
A |
G |
12: 59,017,168 |
S105G |
probably benign |
Het |
| Glra1 |
T |
A |
11: 55,527,398 |
I257F |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,710,521 |
P354S |
probably damaging |
Het |
| Gpr15 |
G |
T |
16: 58,718,174 |
A184E |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,358,863 |
G745E |
probably damaging |
Het |
| H2-T10 |
T |
A |
17: 36,117,416 |
|
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,205,256 |
|
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,908,216 |
|
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,361,130 |
E34G |
unknown |
Het |
| Itga11 |
A |
T |
9: 62,767,648 |
T821S |
probably benign |
Het |
| Lmod2 |
T |
C |
6: 24,603,872 |
V282A |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,620,276 |
K262R |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,343,489 |
|
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,123,878 |
Y14C |
probably damaging |
Het |
| Mtdh |
A |
T |
15: 34,083,135 |
T34S |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 127,121,257 |
D352G |
possibly damaging |
Het |
| Olfr1014 |
T |
C |
2: 85,777,115 |
F177S |
probably damaging |
Het |
| Olfr1036 |
T |
A |
2: 86,075,510 |
Y257N |
probably damaging |
Het |
| Olfr1293-ps |
C |
A |
2: 111,528,224 |
N321K |
probably benign |
Het |
| Olfr224 |
A |
G |
11: 58,566,518 |
Y276H |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,444,784 |
D738E |
possibly damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,300,499 |
R825Q |
probably benign |
Het |
| Pnliprp2 |
C |
T |
19: 58,775,145 |
L409F |
possibly damaging |
Het |
| Prlr |
G |
T |
15: 10,319,195 |
C70F |
probably damaging |
Het |
| Ptpn14 |
C |
T |
1: 189,851,272 |
T772I |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,785,080 |
Q927R |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,525,634 |
E634G |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,315,811 |
S158R |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,544,831 |
T176S |
probably benign |
Het |
| Srsf10 |
T |
C |
4: 135,856,230 |
S2P |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,282,879 |
C50S |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,931,432 |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,505,787 |
H390Q |
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,253,359 |
|
probably null |
Het |
| Tnc |
G |
C |
4: 63,976,556 |
P1531R |
probably damaging |
Het |
| Tnfrsf1b |
C |
A |
4: 145,246,757 |
Q15H |
probably damaging |
Het |
| Tnfrsf1b |
T |
G |
4: 145,246,758 |
Q15P |
possibly damaging |
Het |
| Tssk4 |
A |
T |
14: 55,651,809 |
E264V |
probably damaging |
Het |
| Ttc37 |
T |
G |
13: 76,185,113 |
|
probably null |
Het |
| Ugt3a2 |
G |
A |
15: 9,365,188 |
V296I |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,822,630 |
K318N |
possibly damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,799,263 |
E541A |
probably benign |
Het |
| Ybx1 |
A |
T |
4: 119,278,938 |
|
probably benign |
Het |
| Zfp39 |
T |
A |
11: 58,891,231 |
Y235F |
possibly damaging |
Het |
| Zfp422 |
T |
A |
6: 116,626,943 |
K32* |
probably null |
Het |
| Zpbp2 |
T |
A |
11: 98,551,324 |
|
probably null |
Het |
|
| Other mutations in Frrs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Frrs1
|
APN |
3 |
116,902,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00792:Frrs1
|
APN |
3 |
116,885,295 (GRCm38) |
splice site |
probably null |
|
|
IGL01395:Frrs1
|
APN |
3 |
116,901,005 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01504:Frrs1
|
APN |
3 |
116,900,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01548:Frrs1
|
APN |
3 |
116,885,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01924:Frrs1
|
APN |
3 |
116,885,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03037:Frrs1
|
APN |
3 |
116,902,467 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03104:Frrs1
|
APN |
3 |
116,881,782 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03143:Frrs1
|
APN |
3 |
116,899,187 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0023:Frrs1
|
UTSW |
3 |
116,896,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0023:Frrs1
|
UTSW |
3 |
116,896,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Frrs1
|
UTSW |
3 |
116,885,297 (GRCm38) |
splice site |
probably benign |
|
|
R0051:Frrs1
|
UTSW |
3 |
116,885,297 (GRCm38) |
splice site |
probably benign |
|
|
R0107:Frrs1
|
UTSW |
3 |
116,896,716 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0138:Frrs1
|
UTSW |
3 |
116,881,807 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0532:Frrs1
|
UTSW |
3 |
116,883,164 (GRCm38) |
missense |
probably benign |
|
|
R0646:Frrs1
|
UTSW |
3 |
116,902,421 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1534:Frrs1
|
UTSW |
3 |
116,878,408 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1596:Frrs1
|
UTSW |
3 |
116,883,199 (GRCm38) |
intron |
probably benign |
|
|
R1880:Frrs1
|
UTSW |
3 |
116,896,795 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2193:Frrs1
|
UTSW |
3 |
116,878,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2851:Frrs1
|
UTSW |
3 |
116,885,129 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3177:Frrs1
|
UTSW |
3 |
116,899,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3277:Frrs1
|
UTSW |
3 |
116,899,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3772:Frrs1
|
UTSW |
3 |
116,878,387 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4457:Frrs1
|
UTSW |
3 |
116,896,728 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4887:Frrs1
|
UTSW |
3 |
116,902,416 (GRCm38) |
makesense |
probably null |
|
|
R5015:Frrs1
|
UTSW |
3 |
116,878,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5080:Frrs1
|
UTSW |
3 |
116,902,936 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5256:Frrs1
|
UTSW |
3 |
116,903,100 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5280:Frrs1
|
UTSW |
3 |
116,880,896 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5597:Frrs1
|
UTSW |
3 |
116,878,238 (GRCm38) |
start gained |
probably benign |
|
|
R5887:Frrs1
|
UTSW |
3 |
116,896,750 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6210:Frrs1
|
UTSW |
3 |
116,878,431 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6268:Frrs1
|
UTSW |
3 |
116,903,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6378:Frrs1
|
UTSW |
3 |
116,900,990 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7165:Frrs1
|
UTSW |
3 |
116,878,271 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7220:Frrs1
|
UTSW |
3 |
116,880,776 (GRCm38) |
nonsense |
probably null |
|
|
R7301:Frrs1
|
UTSW |
3 |
116,895,563 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7312:Frrs1
|
UTSW |
3 |
116,881,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7862:Frrs1
|
UTSW |
3 |
116,891,880 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8032:Frrs1
|
UTSW |
3 |
116,878,360 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8114:Frrs1
|
UTSW |
3 |
116,881,776 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8283:Frrs1
|
UTSW |
3 |
116,878,303 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8353:Frrs1
|
UTSW |
3 |
116,899,173 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8923:Frrs1
|
UTSW |
3 |
116,902,421 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9302:Frrs1
|
UTSW |
3 |
116,899,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9336:Frrs1
|
UTSW |
3 |
116,890,933 (GRCm38) |
missense |
probably benign |
|
|
R9455:Frrs1
|
UTSW |
3 |
116,902,323 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
X0063:Frrs1
|
UTSW |
3 |
116,902,422 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
Z1177:Frrs1
|
UTSW |
3 |
116,881,818 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGCAGTAAACTACTTGCTTC -3'
(R):5'- CTGCCCTATTACCGACATCATG -3'
Sequencing Primer
(F):5'- GCTTCATAGTTAAGACCTTCATCC -3'
(R):5'- GCCATTAAAATGACTCTGTTCTTAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation