Incidental Mutation 'IGL02644:Scaf1'
| ID |
301890 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scaf1
|
| Ensembl Gene |
ENSMUSG00000038406 |
| Gene Name |
SR-related CTD-associated factor 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
IGL02644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44652372-44665537 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 44655357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003284]
[ENSMUST00000085383]
[ENSMUST00000107834]
[ENSMUST00000207128]
[ENSMUST00000211735]
[ENSMUST00000209066]
|
| AlphaFold |
Q5U4C3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003284
|
| SMART Domains |
Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
112 |
6.92e-50 |
SMART |
|
IRF-3
|
195 |
373 |
4.87e-73 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085383
|
| SMART Domains |
Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
224 |
N/A |
INTRINSIC |
|
coiled coil region
|
269 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
775 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
776 |
833 |
6e-6 |
BLAST |
|
low complexity region
|
843 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
937 |
N/A |
INTRINSIC |
|
coiled coil region
|
963 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1098 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1146 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
1151 |
1194 |
2e-16 |
BLAST |
|
low complexity region
|
1225 |
1256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107834
|
| SMART Domains |
Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
112 |
6.92e-50 |
SMART |
|
IRF-3
|
195 |
373 |
4.87e-73 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208767
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,198,007 (GRCm39) |
Y89F |
probably benign |
Het |
| Agl |
A |
G |
3: 116,580,246 (GRCm39) |
Y406H |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,711,828 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,776 (GRCm39) |
D511G |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,266,589 (GRCm39) |
Y546H |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,982,911 (GRCm39) |
P806T |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,212,992 (GRCm39) |
T117S |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bspry |
A |
T |
4: 62,414,565 (GRCm39) |
H386L |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,617,629 (GRCm39) |
T156A |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,708,905 (GRCm39) |
M1T |
probably null |
Het |
| Copz2 |
A |
T |
11: 96,744,257 (GRCm39) |
|
probably benign |
Het |
| Cybb |
A |
G |
X: 9,333,395 (GRCm39) |
V23A |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,730 (GRCm39) |
D390V |
possibly damaging |
Het |
| Dennd10 |
T |
A |
19: 60,810,741 (GRCm39) |
S43T |
possibly damaging |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,888 (GRCm39) |
P355Q |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,713,250 (GRCm39) |
Q71L |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,732,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,265,100 (GRCm39) |
D2761G |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,799,280 (GRCm39) |
H256L |
probably benign |
Het |
| Igkv8-24 |
T |
C |
6: 70,193,872 (GRCm39) |
Y112C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,482,224 (GRCm39) |
R675S |
possibly damaging |
Het |
| Mtf1 |
T |
G |
4: 124,714,028 (GRCm39) |
C146G |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,317,841 (GRCm39) |
D178G |
probably damaging |
Het |
| Or7e165 |
A |
C |
9: 19,695,010 (GRCm39) |
I194L |
probably benign |
Het |
| Pam16 |
A |
G |
16: 4,434,697 (GRCm39) |
S91P |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,232 (GRCm39) |
E404G |
probably benign |
Het |
| Pde7a |
C |
A |
3: 19,311,031 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,303,043 (GRCm39) |
G529V |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,923,938 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ppm1m |
A |
T |
9: 106,074,082 (GRCm39) |
I241N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,311,834 (GRCm39) |
Y282C |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,317 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
T |
11: 4,053,380 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
A |
17: 71,667,016 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,652,391 (GRCm39) |
D1615E |
probably damaging |
Het |
| Stt3a |
A |
C |
9: 36,663,649 (GRCm39) |
C198G |
possibly damaging |
Het |
| Tas2r144 |
T |
C |
6: 42,192,787 (GRCm39) |
S176P |
possibly damaging |
Het |
| Tlr13 |
A |
G |
X: 105,200,503 (GRCm39) |
D80G |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,737,920 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,109 (GRCm39) |
C132S |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,733 (GRCm39) |
D406G |
probably damaging |
Het |
| Vmn2r125 |
G |
A |
4: 156,703,294 (GRCm39) |
R224Q |
probably benign |
Het |
| Zfp524 |
C |
A |
7: 5,020,479 (GRCm39) |
D2E |
probably damaging |
Het |
|
| Other mutations in Scaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02146:Scaf1
|
APN |
7 |
44,662,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Scaf1
|
APN |
7 |
44,661,542 (GRCm39) |
splice site |
probably benign |
|
|
R0004:Scaf1
|
UTSW |
7 |
44,657,094 (GRCm39) |
unclassified |
probably benign |
|
|
R0326:Scaf1
|
UTSW |
7 |
44,658,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Scaf1
|
UTSW |
7 |
44,657,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1799:Scaf1
|
UTSW |
7 |
44,657,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3037:Scaf1
|
UTSW |
7 |
44,656,771 (GRCm39) |
unclassified |
probably benign |
|
|
R4044:Scaf1
|
UTSW |
7 |
44,655,798 (GRCm39) |
unclassified |
probably benign |
|
|
R4808:Scaf1
|
UTSW |
7 |
44,658,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4871:Scaf1
|
UTSW |
7 |
44,655,303 (GRCm39) |
unclassified |
probably benign |
|
|
R4905:Scaf1
|
UTSW |
7 |
44,662,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Scaf1
|
UTSW |
7 |
44,652,662 (GRCm39) |
unclassified |
probably benign |
|
|
R5602:Scaf1
|
UTSW |
7 |
44,657,007 (GRCm39) |
unclassified |
probably benign |
|
|
R5748:Scaf1
|
UTSW |
7 |
44,662,230 (GRCm39) |
splice site |
probably null |
|
|
R5907:Scaf1
|
UTSW |
7 |
44,663,016 (GRCm39) |
splice site |
probably benign |
|
|
R6193:Scaf1
|
UTSW |
7 |
44,656,204 (GRCm39) |
unclassified |
probably benign |
|
|
R6207:Scaf1
|
UTSW |
7 |
44,657,047 (GRCm39) |
unclassified |
probably benign |
|
|
R6948:Scaf1
|
UTSW |
7 |
44,662,971 (GRCm39) |
nonsense |
probably null |
|
|
R6969:Scaf1
|
UTSW |
7 |
44,657,253 (GRCm39) |
unclassified |
probably benign |
|
|
R7039:Scaf1
|
UTSW |
7 |
44,657,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Scaf1
|
UTSW |
7 |
44,657,167 (GRCm39) |
missense |
unknown |
|
|
R7356:Scaf1
|
UTSW |
7 |
44,657,208 (GRCm39) |
missense |
unknown |
|
|
R7480:Scaf1
|
UTSW |
7 |
44,657,073 (GRCm39) |
missense |
unknown |
|
|
R7632:Scaf1
|
UTSW |
7 |
44,656,503 (GRCm39) |
missense |
unknown |
|
|
R7971:Scaf1
|
UTSW |
7 |
44,652,965 (GRCm39) |
missense |
unknown |
|
|
R8354:Scaf1
|
UTSW |
7 |
44,657,251 (GRCm39) |
unclassified |
probably benign |
|
|
R8770:Scaf1
|
UTSW |
7 |
44,656,129 (GRCm39) |
missense |
unknown |
|
|
R9414:Scaf1
|
UTSW |
7 |
44,652,716 (GRCm39) |
missense |
unknown |
|
|
R9551:Scaf1
|
UTSW |
7 |
44,658,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Scaf1
|
UTSW |
7 |
44,658,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Scaf1
|
UTSW |
7 |
44,656,576 (GRCm39) |
missense |
unknown |
|
|
X0020:Scaf1
|
UTSW |
7 |
44,654,953 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation