Incidental Mutation 'R8923:Frrs1'
| ID |
679381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frrs1
|
| Ensembl Gene |
ENSMUSG00000033386 |
| Gene Name |
ferric-chelate reductase 1 |
| Synonyms |
Sdfr2 |
| MMRRC Submission |
068768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R8923 (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 116696070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 530
(I530F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000199030]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040260
AA Change: I530F
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: I530F
| 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 |
possibly damaging
Transcript: ENSMUST00000195905
AA Change: I530F
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: I530F
| 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 benign
Transcript: ENSMUST00000199030
|
| SMART Domains |
Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386
| Domain | Start | End | E-Value | Type |
|---|
|
B561
|
1 |
99 |
1.5e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
A |
G |
7: 144,204,288 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,428 (GRCm39) |
I176T |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,126,931 (GRCm39) |
E273G |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,304 (GRCm39) |
I1245T |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,974 (GRCm39) |
S1618P |
possibly damaging |
Het |
| Atp5f1e |
G |
T |
2: 174,304,309 (GRCm39) |
S49* |
probably null |
Het |
| Bsdc1 |
C |
T |
4: 129,355,405 (GRCm39) |
|
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,943 (GRCm39) |
H152R |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,625,284 (GRCm39) |
V208A |
possibly damaging |
Het |
| Cmtm5 |
G |
A |
14: 55,176,345 (GRCm39) |
D137N |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,521,448 (GRCm39) |
M1T |
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,171 (GRCm39) |
V93E |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,478,309 (GRCm39) |
I241F |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,901 (GRCm39) |
T1114A |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,284 (GRCm39) |
I750M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,168,515 (GRCm39) |
K398E |
probably benign |
Het |
| Efcab12 |
G |
C |
6: 115,787,982 (GRCm39) |
T660S |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,864 (GRCm39) |
L2126P |
unknown |
Het |
| Ercc1 |
T |
A |
7: 19,081,062 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,452,236 (GRCm39) |
D1687Y |
probably damaging |
Het |
| Gp5 |
G |
T |
16: 30,128,222 (GRCm39) |
L151I |
probably damaging |
Het |
| H2-Q5 |
A |
G |
17: 35,613,982 (GRCm39) |
D177G |
|
Het |
| Itgal |
A |
T |
7: 126,895,533 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,129,882 (GRCm39) |
C277* |
probably null |
Het |
| Lefty1 |
T |
A |
1: 180,765,318 (GRCm39) |
C295* |
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,137,679 (GRCm39) |
T794S |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,177 (GRCm39) |
M97T |
possibly damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,072,188 (GRCm39) |
P262S |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,562,212 (GRCm39) |
N216I |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,549,972 (GRCm39) |
D5440E |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Naa15 |
G |
A |
3: 51,367,443 (GRCm39) |
V539M |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,702 (GRCm39) |
I263F |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or5ac20 |
G |
C |
16: 59,104,399 (GRCm39) |
L154V |
probably benign |
Het |
| Parpbp |
C |
T |
10: 87,947,474 (GRCm39) |
V387I |
probably benign |
Het |
| Pbxip1 |
T |
C |
3: 89,352,921 (GRCm39) |
I189T |
possibly damaging |
Het |
| Prkci |
T |
A |
3: 31,095,250 (GRCm39) |
Y111* |
probably null |
Het |
| Prkd2 |
C |
G |
7: 16,599,682 (GRCm39) |
T715R |
probably damaging |
Het |
| Rab40c |
A |
C |
17: 26,102,664 (GRCm39) |
S262A |
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,773,798 (GRCm39) |
L164P |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,093,106 (GRCm39) |
K513I |
probably damaging |
Het |
| Rubcn |
G |
T |
16: 32,646,049 (GRCm39) |
T828K |
probably damaging |
Het |
| Sdha |
G |
A |
13: 74,487,179 (GRCm39) |
T203M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,562 (GRCm39) |
|
probably null |
Het |
| Spag8 |
T |
A |
4: 43,651,471 (GRCm39) |
T468S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,704,478 (GRCm39) |
K452E |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,308 (GRCm39) |
F597S |
|
Het |
| Sult1b1 |
A |
C |
5: 87,662,893 (GRCm39) |
F269C |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,170 (GRCm39) |
N128S |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,627,604 (GRCm39) |
Q954* |
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,768 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
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 |
|
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 |
|
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 |
|
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'- AGACCAAATAATCTTAGCCCTAAAGA -3'
(R):5'- CACAGGCACACATGGGGA -3'
Sequencing Primer
(F):5'- TACATATGCATCCCTAGAGCTGGG -3'
(R):5'- TCACTGAACTTCAAGCTGGG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation