Incidental Mutation 'IGL02660:Scaf1'
| ID |
302526 |
| 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: 0.918)
|
| Stock # |
IGL02660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44652372-44665537 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 44661542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085383]
[ENSMUST00000211680]
[ENSMUST00000211735]
|
| AlphaFold |
Q5U4C3 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000183606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210056
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211735
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
| Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
| C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
| Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
| Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
| H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
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 |
|
IGL02644:Scaf1
|
APN |
7 |
44,655,357 (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