Incidental Mutation 'R7301:Frrs1'
| ID |
566958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frrs1
|
| Ensembl Gene |
ENSMUSG00000033386 |
| Gene Name |
ferric-chelate reductase 1 |
| Synonyms |
Sdfr2 |
| MMRRC Submission |
045405-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R7301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116653212-116701363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116689212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 361
(V361A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040260]
[ENSMUST00000195905]
[ENSMUST00000199030]
[ENSMUST00000199626]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040260
AA Change: V361A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: V361A
| 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: V361A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: V361A
| 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: ENSMUST00000199030
|
| SMART Domains |
Protein: ENSMUSP00000142793
Gene: ENSMUSG00000033386
| Domain | Start | End | E-Value | Type |
|---|
|
B561
|
1 |
99 |
1.5e-7 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,376,308 (GRCm39) |
S345N |
possibly damaging |
Het |
| Agk |
A |
T |
6: 40,306,451 (GRCm39) |
T7S |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,488,624 (GRCm39) |
E1345G |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,689,940 (GRCm39) |
Y493F |
probably benign |
Het |
| Atxn2l |
G |
T |
7: 126,093,383 (GRCm39) |
Y791* |
probably null |
Het |
| Cacng8 |
C |
A |
7: 3,463,937 (GRCm39) |
T363K |
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,738,921 (GRCm39) |
T216A |
probably benign |
Het |
| Cd2ap |
G |
A |
17: 43,140,904 (GRCm39) |
R212* |
probably null |
Het |
| Cnppd1 |
A |
G |
1: 75,113,068 (GRCm39) |
L400P |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,422,055 (GRCm39) |
D2797E |
|
Het |
| Ddx24 |
A |
G |
12: 103,385,709 (GRCm39) |
M298T |
possibly damaging |
Het |
| Dpyd |
T |
C |
3: 118,692,933 (GRCm39) |
V359A |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,857,732 (GRCm39) |
T93A |
probably benign |
Het |
| Eif2b3 |
T |
A |
4: 116,910,019 (GRCm39) |
S185T |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,290,921 (GRCm39) |
I475N |
possibly damaging |
Het |
| Ercc2 |
C |
A |
7: 19,128,060 (GRCm39) |
Q715K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,176,629 (GRCm39) |
R754G |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,792,861 (GRCm39) |
V955E |
possibly damaging |
Het |
| Gabrr2 |
T |
A |
4: 33,095,284 (GRCm39) |
M391K |
probably benign |
Het |
| Gm3409 |
T |
A |
5: 146,476,357 (GRCm39) |
D169E |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
C |
G |
18: 10,544,970 (GRCm39) |
Q1433E |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,328,423 (GRCm39) |
V233A |
probably benign |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,915 (GRCm39) |
N74K |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,266,343 (GRCm39) |
I229M |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,798,348 (GRCm39) |
I56T |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,518,985 (GRCm39) |
V2708A |
possibly damaging |
Het |
| Klhl38 |
G |
A |
15: 58,186,376 (GRCm39) |
R118W |
probably damaging |
Het |
| Lmf2 |
C |
A |
15: 89,239,733 (GRCm39) |
|
probably benign |
Het |
| Lrrc3b |
T |
C |
14: 15,357,934 (GRCm38) |
Y224C |
probably damaging |
Het |
| Med1 |
A |
C |
11: 98,043,634 (GRCm39) |
F599C |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,506 (GRCm39) |
S141P |
probably damaging |
Het |
| Mst1r |
G |
T |
9: 107,791,989 (GRCm39) |
A842S |
possibly damaging |
Het |
| Myo3a |
T |
C |
2: 22,436,504 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,970 (GRCm39) |
D230V |
possibly damaging |
Het |
| Nppb |
T |
C |
4: 148,070,780 (GRCm39) |
S52P |
probably benign |
Het |
| Nqo1 |
A |
G |
8: 108,119,280 (GRCm39) |
I99T |
probably damaging |
Het |
| Or1j17 |
T |
A |
2: 36,578,023 (GRCm39) |
M3K |
probably benign |
Het |
| Or6c2b |
T |
C |
10: 128,947,568 (GRCm39) |
H242R |
probably damaging |
Het |
| Pabir1 |
T |
A |
19: 24,454,488 (GRCm39) |
H78L |
probably benign |
Het |
| Pabir1 |
T |
A |
19: 24,454,710 (GRCm39) |
E4V |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,079,977 (GRCm39) |
E240K |
possibly damaging |
Het |
| Plpp7 |
T |
G |
2: 31,986,067 (GRCm39) |
F82V |
probably benign |
Het |
| Podxl |
G |
T |
6: 31,501,371 (GRCm39) |
P395T |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,631 (GRCm39) |
D298V |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,490,677 (GRCm39) |
V13A |
possibly damaging |
Het |
| Rasl2-9 |
A |
G |
7: 5,128,739 (GRCm39) |
W64R |
probably damaging |
Het |
| Rilp |
G |
T |
11: 75,400,942 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,908,984 (GRCm39) |
I1034T |
possibly damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,812,016 (GRCm39) |
Y338H |
probably damaging |
Het |
| Shisa5 |
G |
T |
9: 108,883,952 (GRCm39) |
|
probably benign |
Het |
| Slc27a4 |
C |
T |
2: 29,702,944 (GRCm39) |
T591I |
probably null |
Het |
| Snx24 |
G |
T |
18: 53,473,244 (GRCm39) |
V63F |
probably damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,792,923 (GRCm39) |
N403S |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,067,798 (GRCm39) |
Y1805* |
probably null |
Het |
| Svep1 |
G |
A |
4: 58,046,587 (GRCm39) |
Q3515* |
probably null |
Het |
| Synpo2 |
A |
C |
3: 122,907,702 (GRCm39) |
M538R |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,874,784 (GRCm39) |
K276E |
probably damaging |
Het |
| Tmem158 |
C |
A |
9: 123,089,366 (GRCm39) |
S82I |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,336 (GRCm39) |
H740N |
not run |
Het |
| Top3a |
A |
T |
11: 60,638,974 (GRCm39) |
F559I |
probably damaging |
Het |
| Tysnd1 |
C |
A |
10: 61,532,328 (GRCm39) |
P327T |
possibly damaging |
Het |
| Ulk4 |
T |
A |
9: 120,974,125 (GRCm39) |
D969V |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,853,385 (GRCm39) |
Y525F |
probably benign |
Het |
| Vmn1r127 |
A |
G |
7: 21,052,978 (GRCm39) |
F270S |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,975 (GRCm39) |
S202N |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,878 (GRCm39) |
I64M |
probably benign |
Het |
| Zfp280b |
C |
G |
10: 75,874,537 (GRCm39) |
Q139E |
probably damaging |
Het |
| Zfp322a |
C |
A |
13: 23,541,313 (GRCm39) |
G143V |
probably damaging |
Het |
| Zfp322a |
C |
T |
13: 23,541,314 (GRCm39) |
G143S |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,329,758 (GRCm39) |
V476D |
probably benign |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
|
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'- TAGCCCACACTGTGTCTTGG -3'
(R):5'- GACAGACGATCTACCTGAAAATGTTC -3'
Sequencing Primer
(F):5'- CTCTTCAATTTTCAGGAAGGCGGC -3'
(R):5'- CGATCTACCTGAAAATGTTCATCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation