Incidental Mutation 'IGL02572:Flvcr1'
ID |
299066 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Flvcr1
|
Ensembl Gene |
ENSMUSG00000066595 |
Gene Name |
feline leukemia virus subgroup C cellular receptor 1 |
Synonyms |
9630055N22Rik, Mfsd7b |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02572
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
190738044-190758355 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 190757843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 108
(Y108H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085635]
[ENSMUST00000191946]
[ENSMUST00000192666]
|
AlphaFold |
B2RXV4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085635
AA Change: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082777 Gene: ENSMUSG00000066595 AA Change: Y150H
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
68 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
100 |
483 |
1.5e-28 |
PFAM |
transmembrane domain
|
498 |
517 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181050
|
SMART Domains |
Protein: ENSMUSP00000138069 Gene: ENSMUSG00000097845
Domain | Start | End | E-Value | Type |
low complexity region
|
97 |
106 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
low complexity region
|
246 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191946
AA Change: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141578 Gene: ENSMUSG00000066595 AA Change: Y150H
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
68 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
96 |
243 |
2.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192407
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192666
AA Change: Y108H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141985 Gene: ENSMUSG00000066595 AA Change: Y108H
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
54 |
198 |
3.1e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
T |
C |
1: 85,652,892 (GRCm39) |
N92S |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,323,329 (GRCm39) |
L99P |
possibly damaging |
Het |
Adam19 |
T |
A |
11: 46,022,548 (GRCm39) |
Y500* |
probably null |
Het |
Amy1 |
A |
T |
3: 113,358,722 (GRCm39) |
|
probably benign |
Het |
Aox3 |
T |
C |
1: 58,197,526 (GRCm39) |
I624T |
probably damaging |
Het |
Atad3a |
C |
T |
4: 155,838,041 (GRCm39) |
D244N |
possibly damaging |
Het |
Atp5mf |
C |
A |
5: 145,124,047 (GRCm39) |
|
probably benign |
Het |
Bbof1 |
G |
A |
12: 84,475,139 (GRCm39) |
D443N |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,978,573 (GRCm39) |
Q914* |
probably null |
Het |
C330011M18Rik |
A |
G |
8: 84,793,208 (GRCm39) |
|
probably benign |
Het |
Cgref1 |
A |
G |
5: 31,090,911 (GRCm39) |
V301A |
probably benign |
Het |
Coa6 |
T |
C |
8: 127,149,480 (GRCm39) |
Y19H |
probably damaging |
Het |
Cop1 |
T |
A |
1: 159,136,448 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
T |
C |
4: 89,579,795 (GRCm39) |
S252P |
probably benign |
Het |
Dnaaf5 |
T |
G |
5: 139,170,384 (GRCm39) |
S484A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,324,935 (GRCm39) |
S433C |
probably damaging |
Het |
Efcab5 |
G |
A |
11: 77,028,714 (GRCm39) |
R206* |
probably null |
Het |
Epop |
A |
T |
11: 97,519,027 (GRCm39) |
S361T |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,871,802 (GRCm39) |
T3530S |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,822,347 (GRCm39) |
S6027A |
probably benign |
Het |
Galnt14 |
A |
G |
17: 73,842,262 (GRCm39) |
L209P |
probably damaging |
Het |
Hif3a |
C |
A |
7: 16,784,513 (GRCm39) |
R25L |
probably null |
Het |
Hsf5 |
A |
G |
11: 87,522,521 (GRCm39) |
|
probably benign |
Het |
Il22ra2 |
A |
T |
10: 19,502,492 (GRCm39) |
T104S |
probably benign |
Het |
Klrk1 |
A |
G |
6: 129,592,316 (GRCm39) |
S138P |
probably damaging |
Het |
Lrp5 |
G |
T |
19: 3,664,283 (GRCm39) |
Q815K |
probably benign |
Het |
Morn4 |
A |
G |
19: 42,064,886 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
A |
7: 106,781,929 (GRCm39) |
Y375* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,443,943 (GRCm39) |
M1714K |
probably damaging |
Het |
Or2aj6 |
T |
A |
16: 19,443,848 (GRCm39) |
M1L |
probably benign |
Het |
Or5aq7 |
G |
A |
2: 86,938,710 (GRCm39) |
T7I |
possibly damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,735 (GRCm39) |
D17V |
possibly damaging |
Het |
Pappa2 |
C |
T |
1: 158,678,786 (GRCm39) |
A877T |
probably benign |
Het |
Pcsk2 |
G |
A |
2: 143,532,262 (GRCm39) |
A137T |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,212,044 (GRCm39) |
V2054A |
probably benign |
Het |
Rad52 |
A |
G |
6: 119,892,188 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rusf1 |
A |
T |
7: 127,889,752 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,519,740 (GRCm39) |
|
probably benign |
Het |
Scrn1 |
C |
T |
6: 54,489,186 (GRCm39) |
D312N |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,471,109 (GRCm39) |
Q352R |
probably benign |
Het |
Slc25a28 |
A |
G |
19: 43,652,885 (GRCm39) |
Y259H |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,768,216 (GRCm39) |
M151V |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stra8 |
G |
A |
6: 34,916,094 (GRCm39) |
D280N |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,897,275 (GRCm39) |
D744E |
possibly damaging |
Het |
Tiparp |
A |
G |
3: 65,439,310 (GRCm39) |
T27A |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,333,818 (GRCm39) |
F99S |
probably damaging |
Het |
Tmod3 |
T |
C |
9: 75,416,667 (GRCm39) |
T222A |
probably benign |
Het |
Tnn |
A |
G |
1: 159,913,677 (GRCm39) |
I1272T |
probably damaging |
Het |
Tnpo1 |
A |
T |
13: 98,985,667 (GRCm39) |
I829N |
probably damaging |
Het |
Trpm5 |
A |
T |
7: 142,641,613 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,598,215 (GRCm39) |
V19566A |
probably damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,040 (GRCm39) |
D81G |
probably damaging |
Het |
Zdhhc20 |
A |
G |
14: 58,127,564 (GRCm39) |
V25A |
probably benign |
Het |
|
Other mutations in Flvcr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Flvcr1
|
APN |
1 |
190,747,686 (GRCm39) |
nonsense |
probably null |
|
IGL01089:Flvcr1
|
APN |
1 |
190,745,587 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03248:Flvcr1
|
APN |
1 |
190,757,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Flvcr1
|
UTSW |
1 |
190,740,388 (GRCm39) |
missense |
probably benign |
|
R0122:Flvcr1
|
UTSW |
1 |
190,753,423 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0363:Flvcr1
|
UTSW |
1 |
190,744,451 (GRCm39) |
splice site |
probably benign |
|
R0417:Flvcr1
|
UTSW |
1 |
190,743,416 (GRCm39) |
missense |
probably benign |
0.05 |
R0718:Flvcr1
|
UTSW |
1 |
190,757,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1061:Flvcr1
|
UTSW |
1 |
190,740,370 (GRCm39) |
missense |
probably benign |
0.01 |
R1815:Flvcr1
|
UTSW |
1 |
190,757,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Flvcr1
|
UTSW |
1 |
190,753,353 (GRCm39) |
missense |
probably benign |
0.01 |
R4590:Flvcr1
|
UTSW |
1 |
190,744,343 (GRCm39) |
missense |
probably benign |
0.05 |
R4766:Flvcr1
|
UTSW |
1 |
190,753,303 (GRCm39) |
missense |
probably benign |
0.00 |
R4889:Flvcr1
|
UTSW |
1 |
190,757,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R4956:Flvcr1
|
UTSW |
1 |
190,758,383 (GRCm39) |
unclassified |
probably benign |
|
R4976:Flvcr1
|
UTSW |
1 |
190,757,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R5434:Flvcr1
|
UTSW |
1 |
190,758,206 (GRCm39) |
missense |
probably benign |
0.07 |
R5508:Flvcr1
|
UTSW |
1 |
190,757,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R5930:Flvcr1
|
UTSW |
1 |
190,741,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R6698:Flvcr1
|
UTSW |
1 |
190,757,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R6927:Flvcr1
|
UTSW |
1 |
190,757,861 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7544:Flvcr1
|
UTSW |
1 |
190,758,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R7654:Flvcr1
|
UTSW |
1 |
190,743,802 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7853:Flvcr1
|
UTSW |
1 |
190,757,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R8185:Flvcr1
|
UTSW |
1 |
190,747,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8387:Flvcr1
|
UTSW |
1 |
190,743,731 (GRCm39) |
critical splice donor site |
probably null |
|
R8995:Flvcr1
|
UTSW |
1 |
190,743,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R9092:Flvcr1
|
UTSW |
1 |
190,740,364 (GRCm39) |
missense |
|
|
R9202:Flvcr1
|
UTSW |
1 |
190,744,351 (GRCm39) |
missense |
probably benign |
0.04 |
R9448:Flvcr1
|
UTSW |
1 |
190,744,406 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9487:Flvcr1
|
UTSW |
1 |
190,743,829 (GRCm39) |
missense |
possibly damaging |
0.79 |
X0064:Flvcr1
|
UTSW |
1 |
190,757,644 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2015-04-16 |