Incidental Mutation 'R9220:Fsd1l'
| ID |
699393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fsd1l
|
| Ensembl Gene |
ENSMUSG00000054752 |
| Gene Name |
fibronectin type III and SPRY domain containing 1-like |
| Synonyms |
Csdufd1, Fsd1nl, A230072O16Rik, Ccdc10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R9220 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
53631471-53707009 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 53679799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 166
(K166*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132151]
[ENSMUST00000159415]
[ENSMUST00000163067]
[ENSMUST00000180164]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000132151
AA Change: K166*
|
| SMART Domains |
Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: K166*
| 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 null
Transcript: ENSMUST00000159415
AA Change: K166*
|
| SMART Domains |
Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: K166*
| 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 null
Transcript: ENSMUST00000163067
AA Change: K166*
|
| SMART Domains |
Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: K166*
| 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 null
Transcript: ENSMUST00000180164
AA Change: K166*
|
| SMART Domains |
Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: K166*
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
T |
G |
18: 67,562,266 (GRCm39) |
I270L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,187,232 (GRCm39) |
I1549F |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,737,086 (GRCm39) |
T2933A |
unknown |
Het |
| Atp1a3 |
C |
A |
7: 24,696,625 (GRCm39) |
E309* |
probably null |
Het |
| B4galt2 |
T |
C |
4: 117,734,399 (GRCm39) |
Y250C |
probably damaging |
Het |
| Bcl2l13 |
C |
A |
6: 120,847,735 (GRCm39) |
T129K |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,626,457 (GRCm39) |
T384S |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,076 (GRCm39) |
H364Q |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,415 (GRCm39) |
C521R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,871,437 (GRCm39) |
I2486F |
probably benign |
Het |
| Eml1 |
C |
A |
12: 108,480,702 (GRCm39) |
C389* |
probably null |
Het |
| Fabp6 |
C |
T |
11: 43,489,572 (GRCm39) |
G23D |
probably benign |
Het |
| Fam3b |
A |
T |
16: 97,302,111 (GRCm39) |
S38T |
probably benign |
Het |
| Galc |
A |
G |
12: 98,220,523 (GRCm39) |
S115P |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,664,884 (GRCm39) |
A303T |
probably benign |
Het |
| Grid2 |
A |
T |
6: 63,885,888 (GRCm39) |
S95C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,560,873 (GRCm39) |
S1312T |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,410,325 (GRCm39) |
F506L |
possibly damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,512 (GRCm39) |
S148G |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,484,398 (GRCm39) |
D333V |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,805,711 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,523 (GRCm39) |
N377Y |
probably damaging |
Het |
| Nox4 |
C |
T |
7: 86,970,774 (GRCm39) |
T217I |
probably benign |
Het |
| Or7g21 |
T |
C |
9: 19,033,193 (GRCm39) |
F311S |
possibly damaging |
Het |
| Or8b52 |
A |
T |
9: 38,576,803 (GRCm39) |
Y112* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,286,494 (GRCm39) |
I103V |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,768,726 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,805 (GRCm39) |
S1231P |
|
Het |
| Plekhg3 |
T |
A |
12: 76,618,839 (GRCm39) |
M497K |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,604,669 (GRCm39) |
H413R |
probably damaging |
Het |
| Rragd |
A |
G |
4: 32,995,924 (GRCm39) |
T90A |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,242,396 (GRCm39) |
M286T |
probably benign |
Het |
| Shpk |
GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA |
GA |
11: 73,113,996 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
A |
17: 12,838,757 (GRCm39) |
D528E |
probably benign |
Het |
| Slirp |
G |
A |
12: 87,494,376 (GRCm39) |
R47K |
probably benign |
Het |
| Sncg |
T |
C |
14: 34,096,474 (GRCm39) |
T22A |
possibly damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,398,801 (GRCm39) |
S636G |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,546,534 (GRCm39) |
S535R |
probably damaging |
Het |
| Vmn1r149 |
A |
T |
7: 22,137,378 (GRCm39) |
S93T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,783,058 (GRCm39) |
Y3957H |
|
Het |
| Wdr35 |
T |
A |
12: 9,036,000 (GRCm39) |
V257E |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,662,750 (GRCm39) |
T264A |
probably benign |
Het |
| Zfp266 |
G |
A |
9: 20,413,337 (GRCm39) |
Q108* |
probably null |
Het |
| Zfp62 |
T |
A |
11: 49,106,075 (GRCm39) |
S55R |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGGCAATATGAGGCTTTG -3'
(R):5'- ACTCGATTCATGAGATGGTGTCG -3'
Sequencing Primer
(F):5'- CAGAGGTTGAGTGCCAAG -3'
(R):5'- CCTGATAATGTATATTCAGTGCCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation