Incidental Mutation 'IGL01154:Fsd1l'
ID |
51001 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fsd1l
|
Ensembl Gene |
ENSMUSG00000054752 |
Gene Name |
fibronectin type III and SPRY domain containing 1-like |
Synonyms |
Csdufd1, Fsd1nl, A230072O16Rik, Ccdc10 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.612)
|
Stock # |
IGL01154
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
53631471-53707009 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53701074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 469
(M469V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132151]
[ENSMUST00000159415]
[ENSMUST00000163067]
[ENSMUST00000180164]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000132151
AA Change: M469V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000114931 Gene: ENSMUSG00000054752 AA Change: M469V
Domain | Start | End | E-Value | Type |
BBC
|
4 |
130 |
4.3e-8 |
SMART |
FN3
|
165 |
255 |
2.21e-3 |
SMART |
Pfam:SPRY
|
350 |
470 |
3.2e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159415
AA Change: M479V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124002 Gene: ENSMUSG00000054752 AA Change: M479V
Domain | Start | End | E-Value | Type |
BBC
|
4 |
130 |
4.3e-8 |
SMART |
FN3
|
165 |
255 |
2.21e-3 |
SMART |
Pfam:SPRY
|
360 |
480 |
2e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163067
AA Change: M468V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124613 Gene: ENSMUSG00000054752 AA Change: M468V
Domain | Start | End | E-Value | Type |
BBC
|
4 |
130 |
4.3e-8 |
SMART |
FN3
|
165 |
255 |
2.21e-3 |
SMART |
Pfam:SPRY
|
349 |
469 |
3.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179534
AA Change: M479V
|
SMART Domains |
Protein: ENSMUSP00000136849 Gene: ENSMUSG00000054752 AA Change: M479V
Domain | Start | End | E-Value | Type |
BBC
|
4 |
130 |
4.3e-8 |
SMART |
FN3
|
165 |
255 |
2.21e-3 |
SMART |
Pfam:SPRY
|
362 |
479 |
2.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180164
AA Change: M469V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136184 Gene: ENSMUSG00000054752 AA Change: M469V
Domain | Start | End | E-Value | Type |
BBC
|
4 |
130 |
1.4e-7 |
SMART |
FN3
|
165 |
255 |
2.21e-3 |
SMART |
Pfam:SPRY
|
350 |
470 |
1.2e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
Other mutations in Fsd1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00975:Fsd1l
|
APN |
4 |
53,682,187 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01019:Fsd1l
|
APN |
4 |
53,694,742 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01359:Fsd1l
|
APN |
4 |
53,659,601 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01996:Fsd1l
|
APN |
4 |
53,647,760 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02192:Fsd1l
|
APN |
4 |
53,647,754 (GRCm39) |
missense |
probably benign |
|
IGL02629:Fsd1l
|
APN |
4 |
53,686,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Fsd1l
|
UTSW |
4 |
53,687,209 (GRCm39) |
missense |
probably benign |
0.01 |
R0166:Fsd1l
|
UTSW |
4 |
53,647,664 (GRCm39) |
splice site |
probably null |
|
R0255:Fsd1l
|
UTSW |
4 |
53,694,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Fsd1l
|
UTSW |
4 |
53,679,854 (GRCm39) |
missense |
probably damaging |
0.97 |
R0409:Fsd1l
|
UTSW |
4 |
53,679,932 (GRCm39) |
missense |
probably benign |
0.00 |
R1886:Fsd1l
|
UTSW |
4 |
53,696,984 (GRCm39) |
splice site |
probably null |
|
R1887:Fsd1l
|
UTSW |
4 |
53,696,984 (GRCm39) |
splice site |
probably null |
|
R2039:Fsd1l
|
UTSW |
4 |
53,679,972 (GRCm39) |
missense |
probably benign |
0.02 |
R2289:Fsd1l
|
UTSW |
4 |
53,696,931 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4577:Fsd1l
|
UTSW |
4 |
53,686,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Fsd1l
|
UTSW |
4 |
53,647,766 (GRCm39) |
missense |
probably benign |
0.43 |
R6073:Fsd1l
|
UTSW |
4 |
53,679,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:Fsd1l
|
UTSW |
4 |
53,694,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R7184:Fsd1l
|
UTSW |
4 |
53,694,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R7285:Fsd1l
|
UTSW |
4 |
53,682,200 (GRCm39) |
critical splice donor site |
probably null |
|
R7423:Fsd1l
|
UTSW |
4 |
53,686,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R7465:Fsd1l
|
UTSW |
4 |
53,647,755 (GRCm39) |
missense |
probably benign |
|
R8723:Fsd1l
|
UTSW |
4 |
53,647,001 (GRCm39) |
missense |
unknown |
|
R8926:Fsd1l
|
UTSW |
4 |
53,686,493 (GRCm39) |
missense |
probably benign |
|
R9131:Fsd1l
|
UTSW |
4 |
53,694,756 (GRCm39) |
missense |
probably damaging |
0.98 |
R9220:Fsd1l
|
UTSW |
4 |
53,679,799 (GRCm39) |
nonsense |
probably null |
|
R9313:Fsd1l
|
UTSW |
4 |
53,701,093 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9313:Fsd1l
|
UTSW |
4 |
53,694,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R9380:Fsd1l
|
UTSW |
4 |
53,693,991 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9448:Fsd1l
|
UTSW |
4 |
53,694,826 (GRCm39) |
nonsense |
probably null |
|
R9712:Fsd1l
|
UTSW |
4 |
53,679,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-06-21 |