Incidental Mutation 'R3037:Scaf1'
| ID |
264851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf1
|
| Ensembl Gene |
ENSMUSG00000038406 |
| Gene Name |
SR-related CTD-associated factor 1 |
| Synonyms |
|
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R3037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44652372-44665537 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 44656771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146773
(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 |
unknown
Transcript: ENSMUST00000085383
AA Change: S703G
|
| SMART Domains |
Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
AA Change: S703G
| 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 |
unknown
Transcript: ENSMUST00000117282
AA Change: S703G
|
| SMART Domains |
Protein: ENSMUSP00000114117
Gene: ENSMUSG00000038406
AA Change: S703G
| 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: ENSMUST00000207128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207476
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211735
AA Change: S703G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208958
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGACTGCAGTTTTACCTTGC -3'
(R):5'- TCTATCCAGGACCTCACAGATC -3'
Sequencing Primer
(F):5'- ACTGCAGTTTTACCTTGCGAGAG -3'
(R):5'- TCACAGATCACGACCTGTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation