Incidental Mutation 'R0692:Rflnb'
| ID |
63381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rflnb
|
| Ensembl Gene |
ENSMUSG00000020846 |
| Gene Name |
refilin B |
| Synonyms |
cfm, RefilinB, 1500005K14Rik, Fam101b |
| MMRRC Submission |
038877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0692 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75910020-75918608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75918279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 62
(D62G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021207]
|
| AlphaFold |
Q5SVD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021207
AA Change: D62G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021207
Gene: ENSMUSG00000020846
AA Change: D62G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM101
|
1 |
204 |
5.6e-96 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and overtly normal, with no alterations in forebrain and midbrain development, survival, body weight and body length, tibia length or lumbar disk morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,205,383 (GRCm39) |
D44E |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,076,616 (GRCm39) |
V421A |
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,172,155 (GRCm39) |
R273* |
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,230,357 (GRCm39) |
L1577* |
probably null |
Het |
| Col14a1 |
G |
C |
15: 55,205,134 (GRCm39) |
G88A |
unknown |
Het |
| Helz2 |
A |
G |
2: 180,882,674 (GRCm39) |
C40R |
probably benign |
Het |
| Kcng1 |
T |
A |
2: 168,104,683 (GRCm39) |
I388F |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,983,896 (GRCm39) |
E368G |
possibly damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,053 (GRCm39) |
D400G |
possibly damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,003 (GRCm39) |
C744R |
probably damaging |
Het |
| Or5m3b |
A |
G |
2: 85,872,516 (GRCm39) |
M286V |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,168,698 (GRCm39) |
Y788F |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,673,362 (GRCm39) |
|
probably null |
Het |
| Sema4f |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
6: 82,916,511 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,036,082 (GRCm39) |
Y651* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,443,888 (GRCm39) |
T113A |
probably benign |
Het |
| Svopl |
A |
T |
6: 37,994,131 (GRCm39) |
L300Q |
probably damaging |
Het |
| Trim41 |
C |
T |
11: 48,699,077 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
C |
A |
6: 57,903,110 (GRCm39) |
E223* |
probably null |
Het |
|
| Other mutations in Rflnb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0067:Rflnb
|
UTSW |
11 |
75,912,987 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0067:Rflnb
|
UTSW |
11 |
75,912,987 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0144:Rflnb
|
UTSW |
11 |
75,915,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Rflnb
|
UTSW |
11 |
75,912,964 (GRCm39) |
nonsense |
probably null |
|
|
R5757:Rflnb
|
UTSW |
11 |
75,912,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5870:Rflnb
|
UTSW |
11 |
75,912,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8548:Rflnb
|
UTSW |
11 |
75,913,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9473:Rflnb
|
UTSW |
11 |
75,913,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9562:Rflnb
|
UTSW |
11 |
75,912,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCTACCAGACCCTGAAGACTCTTG -3'
(R):5'- ATGTCCCTGAACTCGTGGACACGAAG -3'
Sequencing Primer
(F):5'- GGCGATGACAATTTTCCAGC -3'
(R):5'- CTCGTGGACACGAAGAAAAAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation