Incidental Mutation 'IGL01019:Fsd1l'
| ID |
53547 |
| 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: 0.683)
|
| Stock # |
IGL01019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
53631471-53707009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53694742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 389
(C389S)
|
| 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 damaging
Transcript: ENSMUST00000132151
AA Change: C389S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: C389S
| 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 |
possibly damaging
Transcript: ENSMUST00000159415
AA Change: C399S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: C399S
| 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 damaging
Transcript: ENSMUST00000163067
AA Change: C388S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: C388S
| 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 damaging
Transcript: ENSMUST00000179534
AA Change: C399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136849
Gene: ENSMUSG00000054752
AA Change: C399S
| 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 damaging
Transcript: ENSMUST00000180164
AA Change: C389S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: C389S
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
| Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
| Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
| Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
| Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
| Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
| Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
| Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
| Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
| Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
| Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
| Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
| Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
| Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
| Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
| Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
| Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
| Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
| Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
| Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
| Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
| Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
| Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
| Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
| Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
| Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably 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 |
|
IGL01154:Fsd1l
|
APN |
4 |
53,701,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-06-28 |
Incidental Mutation