Incidental Mutation 'R5508:Flvcr1'
| ID |
431018 |
| 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 |
043069-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
190738044-190758355 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 190757656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 212
(G212D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085635]
[ENSMUST00000191946]
[ENSMUST00000192666]
|
| AlphaFold |
B2RXV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085635
AA Change: G212D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: G212D
| 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: G212D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: G212D
| 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: G170D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595
AA Change: G170D
| 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: 98.4%
- 3x: 97.4%
- 10x: 95.7%
- 20x: 92.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,431,633 (GRCm39) |
D344G |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,534,649 (GRCm39) |
F300I |
probably damaging |
Het |
| BC016579 |
T |
A |
16: 45,453,369 (GRCm39) |
T149S |
possibly damaging |
Het |
| Bcl6b |
A |
T |
11: 70,116,919 (GRCm39) |
H453Q |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Clec4b2 |
A |
G |
6: 123,150,001 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,823,207 (GRCm39) |
C396F |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,146 (GRCm38) |
V253A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,237,516 (GRCm39) |
*241W |
probably null |
Het |
| Golga2 |
T |
A |
2: 32,178,199 (GRCm39) |
L36* |
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,331,805 (GRCm39) |
C4* |
probably null |
Het |
| Kit |
G |
T |
5: 75,810,208 (GRCm39) |
C786F |
probably damaging |
Het |
| Klf14 |
T |
C |
6: 30,934,977 (GRCm39) |
H219R |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,200,248 (GRCm39) |
V122A |
possibly damaging |
Het |
| Lct |
G |
A |
1: 128,221,868 (GRCm39) |
A1557V |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,441,479 (GRCm39) |
K1162N |
probably benign |
Het |
| Mtmr11 |
G |
A |
3: 96,071,084 (GRCm39) |
R147Q |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,902,444 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,434,179 (GRCm39) |
L48F |
probably damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,742,001 (GRCm39) |
D310N |
probably damaging |
Het |
| Phlpp1 |
G |
T |
1: 106,292,120 (GRCm39) |
R993L |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,266,488 (GRCm39) |
P21S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,522,092 (GRCm39) |
V620L |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,315,827 (GRCm39) |
D2182E |
probably damaging |
Het |
| Sass6 |
G |
A |
3: 116,413,752 (GRCm39) |
R485K |
probably benign |
Het |
| Scoc |
A |
T |
8: 84,162,571 (GRCm39) |
S68T |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,844,678 (GRCm39) |
L114I |
probably damaging |
Het |
| Ss18l1 |
C |
G |
2: 179,699,446 (GRCm39) |
Q215E |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,796,143 (GRCm39) |
N368S |
probably benign |
Het |
| Trim80 |
T |
A |
11: 115,335,904 (GRCm39) |
S275R |
probably benign |
Het |
| Tubb5 |
T |
C |
17: 36,145,962 (GRCm39) |
N416S |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,059 (GRCm39) |
M395K |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,242 (GRCm39) |
M285K |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,645 (GRCm39) |
I1008V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCGCCAGTTTCCAAGC -3'
(R):5'- AACTGGCTGTCCATGGTGTAC -3'
Sequencing Primer
(F):5'- TCAGTGCTGGCTGGGAATACAC -3'
(R):5'- TACATGGTGGCCTACGTGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation