Incidental Mutation 'R3947:Fnbp1l'
| ID |
307743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnbp1l
|
| Ensembl Gene |
ENSMUSG00000039735 |
| Gene Name |
formin binding protein 1-like |
| Synonyms |
TOCA1, 2610318I01Rik |
| MMRRC Submission |
040927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122332368-122413363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122338228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 481
(A481D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162409]
[ENSMUST00000162947]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162409
AA Change: A481D
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124439
Gene: ENSMUSG00000039735
AA Change: A481D
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
93 |
4.83e-18 |
SMART |
|
coiled coil region
|
131 |
177 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
331 |
426 |
3e-30 |
PDB |
|
low complexity region
|
468 |
477 |
N/A |
INTRINSIC |
|
SH3
|
483 |
540 |
5.27e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162947
AA Change: A539D
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124947
Gene: ENSMUSG00000039735
AA Change: A539D
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
93 |
4.83e-18 |
SMART |
|
coiled coil region
|
131 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
347 |
N/A |
INTRINSIC |
|
PDB:2KE4|A
|
389 |
484 |
4e-30 |
PDB |
|
low complexity region
|
526 |
535 |
N/A |
INTRINSIC |
|
SH3
|
541 |
598 |
5.27e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196051
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197259
AA Change: A384D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197342
|
| Meta Mutation Damage Score |
0.1056 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
A |
14: 54,916,790 (GRCm39) |
Q133L |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| C87436 |
T |
A |
6: 86,423,168 (GRCm39) |
H247Q |
probably damaging |
Het |
| Cfap43 |
G |
T |
19: 47,754,418 (GRCm39) |
H969N |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,849,604 (GRCm39) |
N446Y |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,693,053 (GRCm39) |
I1446N |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 118,989,730 (GRCm39) |
|
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,342,445 (GRCm39) |
T129M |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,274,213 (GRCm39) |
R6388G |
probably damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,557 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo5b |
C |
T |
18: 74,828,474 (GRCm39) |
R709W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,382,917 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2g1 |
A |
T |
17: 38,107,006 (GRCm39) |
I224L |
probably benign |
Het |
| Pex11g |
G |
A |
8: 3,515,787 (GRCm39) |
T82I |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,961,453 (GRCm39) |
I842V |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,801,768 (GRCm39) |
I92T |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Suclg2 |
G |
T |
6: 95,556,219 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
A |
T |
14: 87,744,035 (GRCm39) |
D655V |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,410,829 (GRCm39) |
D896N |
unknown |
Het |
| Tmem168 |
C |
A |
6: 13,583,051 (GRCm39) |
R610L |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,206,491 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,017,902 (GRCm39) |
E2546G |
probably damaging |
Het |
|
| Other mutations in Fnbp1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Fnbp1l
|
APN |
3 |
122,342,898 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01655:Fnbp1l
|
APN |
3 |
122,362,398 (GRCm39) |
splice site |
probably null |
|
|
IGL01750:Fnbp1l
|
APN |
3 |
122,338,326 (GRCm39) |
nonsense |
probably null |
|
|
IGL02040:Fnbp1l
|
APN |
3 |
122,364,602 (GRCm39) |
splice site |
probably benign |
|
|
IGL02187:Fnbp1l
|
APN |
3 |
122,362,449 (GRCm39) |
nonsense |
probably null |
|
|
IGL03334:Fnbp1l
|
APN |
3 |
122,351,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0347:Fnbp1l
|
UTSW |
3 |
122,383,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Fnbp1l
|
UTSW |
3 |
122,364,602 (GRCm39) |
splice site |
probably benign |
|
|
R1401:Fnbp1l
|
UTSW |
3 |
122,339,955 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1746:Fnbp1l
|
UTSW |
3 |
122,350,140 (GRCm39) |
missense |
probably benign |
|
|
R1778:Fnbp1l
|
UTSW |
3 |
122,383,796 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1861:Fnbp1l
|
UTSW |
3 |
122,354,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Fnbp1l
|
UTSW |
3 |
122,340,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3407:Fnbp1l
|
UTSW |
3 |
122,345,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Fnbp1l
|
UTSW |
3 |
122,339,955 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4667:Fnbp1l
|
UTSW |
3 |
122,350,216 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4771:Fnbp1l
|
UTSW |
3 |
122,351,752 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4858:Fnbp1l
|
UTSW |
3 |
122,339,964 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5163:Fnbp1l
|
UTSW |
3 |
122,338,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6151:Fnbp1l
|
UTSW |
3 |
122,364,579 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6153:Fnbp1l
|
UTSW |
3 |
122,352,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6452:Fnbp1l
|
UTSW |
3 |
122,338,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Fnbp1l
|
UTSW |
3 |
122,350,089 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6788:Fnbp1l
|
UTSW |
3 |
122,339,956 (GRCm39) |
nonsense |
probably null |
|
|
R7397:Fnbp1l
|
UTSW |
3 |
122,338,286 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9182:Fnbp1l
|
UTSW |
3 |
122,363,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Fnbp1l
|
UTSW |
3 |
122,352,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCACACCAGGGAGGG -3'
(R):5'- ACACAAAGCAGTCTCGTGTTT -3'
Sequencing Primer
(F):5'- GTTAATAGCCATGGGAAGACTCTCC -3'
(R):5'- TTTGCCAGACCTGATCAGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation