Incidental Mutation 'R9202:Flvcr1'
ID |
698257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flvcr1
|
Ensembl Gene |
ENSMUSG00000066595 |
Gene Name |
feline leukemia virus subgroup C cellular receptor 1 |
Synonyms |
9630055N22Rik, Mfsd7b |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9202 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
190738044-190758355 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 190744351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 399
(Y399F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085635]
[ENSMUST00000192666]
|
AlphaFold |
B2RXV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085635
AA Change: Y399F
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000082777 Gene: ENSMUSG00000066595 AA Change: Y399F
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 |
probably benign
Transcript: ENSMUST00000192666
|
SMART Domains |
Protein: ENSMUSP00000141985 Gene: ENSMUSG00000066595
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (41/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
Ankrd31 |
C |
T |
13: 97,015,383 (GRCm39) |
Q1551* |
probably null |
Het |
Asphd1 |
T |
A |
7: 126,547,934 (GRCm39) |
Y123F |
probably damaging |
Het |
Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cep72 |
G |
T |
13: 74,198,420 (GRCm39) |
T320K |
probably benign |
Het |
Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
Ipo4 |
A |
T |
14: 55,868,597 (GRCm39) |
|
probably null |
Het |
Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
Zbtb1 |
G |
T |
12: 76,433,784 (GRCm39) |
R590L |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
probably damaging |
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 |
IGL02572:Flvcr1
|
APN |
1 |
190,757,843 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAGATCATTGCAAGCATTAC -3'
(R):5'- TCTAGCCCATGTAATGAGTCTTCC -3'
Sequencing Primer
(F):5'- TTACTCAGACACAGCGGTACCTG -3'
(R):5'- CCCATGTAATGAGTCTTCCTATTATG -3'
|
Posted On |
2022-02-07 |