Incidental Mutation 'R5434:Flvcr1'
| ID |
428188 |
| 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 |
042999-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5434 (G1)
|
| Quality Score |
120 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
190738044-190758355 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 190758206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 29
(A29S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085635]
[ENSMUST00000191946]
[ENSMUST00000192666]
|
| AlphaFold |
B2RXV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085635
AA Change: A29S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: A29S
| 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 benign
Transcript: ENSMUST00000191946
AA Change: A29S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: A29S
| 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 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 |
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| Angptl6 |
G |
T |
9: 20,786,821 (GRCm39) |
Q301K |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,344,013 (GRCm39) |
Y323C |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 67,932,719 (GRCm39) |
H818L |
possibly damaging |
Het |
| Atg13 |
G |
T |
2: 91,515,110 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
C |
3: 36,929,665 (GRCm39) |
D94A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,611 (GRCm39) |
M245V |
probably benign |
Het |
| Ces2a |
T |
A |
8: 105,464,041 (GRCm39) |
F224L |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,926 (GRCm39) |
H228R |
probably benign |
Het |
| Col9a2 |
A |
T |
4: 120,898,162 (GRCm39) |
R25* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,302,744 (GRCm39) |
T137N |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,729,693 (GRCm39) |
N765S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,581,256 (GRCm39) |
Y3162C |
probably damaging |
Het |
| Dpf1 |
G |
T |
7: 29,010,756 (GRCm39) |
C123F |
possibly damaging |
Het |
| Frmd3 |
A |
T |
4: 74,106,033 (GRCm39) |
I560F |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,800 (GRCm39) |
V282I |
possibly damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,405 (GRCm39) |
C497S |
probably damaging |
Het |
| Gm20830 |
A |
T |
Y: 6,916,464 (GRCm39) |
Y218* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,310,375 (GRCm39) |
T3323N |
probably damaging |
Het |
| Idh1 |
T |
A |
1: 65,214,495 (GRCm39) |
Q6L |
probably benign |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,813 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnj10 |
T |
A |
1: 172,197,047 (GRCm39) |
V187E |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,124,957 (GRCm39) |
T404A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,660,880 (GRCm39) |
N76I |
probably damaging |
Het |
| Lrrc9 |
G |
A |
12: 72,500,862 (GRCm39) |
C196Y |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mgp |
T |
A |
6: 136,849,772 (GRCm39) |
N62I |
probably benign |
Het |
| Ms4a6c |
T |
A |
19: 11,448,588 (GRCm39) |
H40Q |
probably benign |
Het |
| Necab3 |
A |
G |
2: 154,389,379 (GRCm39) |
S121P |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,332,372 (GRCm39) |
K128* |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,067,861 (GRCm39) |
R486W |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,991 (GRCm39) |
K1525R |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,550 (GRCm39) |
K573R |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,968 (GRCm39) |
D1085Y |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rbm15 |
A |
G |
3: 107,237,783 (GRCm39) |
S872P |
possibly damaging |
Het |
| Retsat |
A |
G |
6: 72,578,518 (GRCm39) |
I77V |
probably damaging |
Het |
| Rpl32 |
A |
G |
6: 115,783,996 (GRCm39) |
F77L |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,624,814 (GRCm39) |
V2202D |
probably damaging |
Het |
| Sars2 |
G |
A |
7: 28,449,716 (GRCm39) |
R387Q |
probably null |
Het |
| Serpinb3d |
G |
T |
1: 107,006,263 (GRCm39) |
T275N |
probably benign |
Het |
| Sf3a1 |
C |
A |
11: 4,124,041 (GRCm39) |
P296Q |
probably damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,025,744 (GRCm39) |
|
probably benign |
Het |
| St3gal3 |
A |
G |
4: 117,797,247 (GRCm39) |
L332P |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,952,739 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,018,649 (GRCm39) |
S3383T |
probably damaging |
Het |
| Tektl1 |
A |
T |
10: 78,584,484 (GRCm39) |
L346* |
probably null |
Het |
| Tnfsf14 |
A |
G |
17: 57,499,592 (GRCm39) |
S87P |
probably benign |
Het |
| Trap1 |
T |
C |
16: 3,862,529 (GRCm39) |
D583G |
probably benign |
Het |
| Ube3d |
A |
T |
9: 86,309,460 (GRCm39) |
I212N |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,362,271 (GRCm39) |
D1572E |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,387 (GRCm39) |
T193S |
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,767,470 (GRCm39) |
V676L |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
C |
T |
3: 159,639,976 (GRCm39) |
R536C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,031 (GRCm39) |
D51G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGATGAGCAGCACCACG -3'
(R):5'- AGCTCTGCTTCACTTAGTCAG -3'
Sequencing Primer
(F):5'- GAGCAGCACCACGAAGCG -3'
(R):5'- TTCACTTAGTCAGCAAGCGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation