Incidental Mutation 'R8387:Flvcr1'
ID |
647185 |
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 |
067876-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
190738044-190758355 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 190743731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085635]
[ENSMUST00000085635]
[ENSMUST00000085635]
[ENSMUST00000192666]
|
AlphaFold |
B2RXV4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085635
|
SMART Domains |
Protein: ENSMUSP00000082777 Gene: ENSMUSG00000066595
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 null
Transcript: ENSMUST00000085635
|
SMART Domains |
Protein: ENSMUSP00000082777 Gene: ENSMUSG00000066595
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 null
Transcript: ENSMUST00000085635
|
SMART Domains |
Protein: ENSMUSP00000082777 Gene: ENSMUSG00000066595
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
Arl14ep |
T |
C |
2: 106,799,562 (GRCm39) |
D93G |
probably damaging |
Het |
Bcl7b |
T |
C |
5: 135,197,413 (GRCm39) |
I18T |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,501 (GRCm39) |
I614V |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,281,400 (GRCm39) |
I169V |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,858,877 (GRCm39) |
|
probably null |
Het |
Csmd1 |
G |
A |
8: 16,050,484 (GRCm39) |
H2251Y |
possibly damaging |
Het |
Dab2ip |
T |
A |
2: 35,609,870 (GRCm39) |
I695K |
probably damaging |
Het |
Dhtkd1 |
C |
A |
2: 5,934,479 (GRCm39) |
L230F |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,088,600 (GRCm39) |
S353P |
probably benign |
Het |
Erc2 |
T |
A |
14: 27,375,253 (GRCm39) |
L157Q |
possibly damaging |
Het |
Fryl |
A |
C |
5: 73,293,663 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
C |
4: 124,949,127 (GRCm39) |
*729Q |
probably null |
Het |
Gpr63 |
G |
A |
4: 25,008,301 (GRCm39) |
V342M |
possibly damaging |
Het |
Guf1 |
C |
T |
5: 69,723,810 (GRCm39) |
P463L |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Ifngr2 |
T |
C |
16: 91,358,535 (GRCm39) |
L245P |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,564 (GRCm39) |
F1206L |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,944,744 (GRCm39) |
|
probably null |
Het |
Lekr1 |
A |
G |
3: 65,591,520 (GRCm39) |
K86E |
possibly damaging |
Het |
Lrrc3 |
C |
T |
10: 77,737,346 (GRCm39) |
G30D |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,344,897 (GRCm39) |
F765L |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,183,632 (GRCm39) |
T676A |
unknown |
Het |
Nr4a1 |
T |
C |
15: 101,171,053 (GRCm39) |
S510P |
probably damaging |
Het |
Or2o1 |
T |
C |
11: 49,051,497 (GRCm39) |
S219P |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,646 (GRCm39) |
I41M |
probably benign |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or51e1 |
C |
T |
7: 102,359,402 (GRCm39) |
T312I |
probably benign |
Het |
Or5a1 |
A |
G |
19: 12,097,785 (GRCm39) |
L97P |
probably damaging |
Het |
Pdcd1 |
G |
A |
1: 93,969,193 (GRCm39) |
L42F |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,018,490 (GRCm39) |
D621G |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pias4 |
G |
A |
10: 80,990,342 (GRCm39) |
R398C |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,219,893 (GRCm39) |
|
probably null |
Het |
Prkag3 |
A |
G |
1: 74,784,854 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,606 (GRCm39) |
T23A |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,873,526 (GRCm39) |
D1069G |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,030 (GRCm39) |
Y503C |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,866,899 (GRCm39) |
D610G |
probably benign |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,740,883 (GRCm39) |
F1200S |
probably damaging |
Het |
Tox3 |
A |
G |
8: 90,984,595 (GRCm39) |
S195P |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,230,518 (GRCm39) |
E171G |
probably damaging |
Het |
Vars1 |
T |
A |
17: 35,229,490 (GRCm39) |
M369K |
probably damaging |
Het |
Vmn2r77 |
C |
A |
7: 86,450,947 (GRCm39) |
Q278K |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,740 (GRCm39) |
T266A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAAGACAGGCGGCATATG -3'
(R):5'- AGCTAGCTGCATTATTCTCTGC -3'
Sequencing Primer
(F):5'- TGTACAGGCAAGCTCATCTG -3'
(R):5'- GCATTATTCTCTGCAGAGGGACC -3'
|
Posted On |
2020-09-02 |