Incidental Mutation 'R4044:Scaf1'
| ID |
313982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf1
|
| Ensembl Gene |
ENSMUSG00000038406 |
| Gene Name |
SR-related CTD-associated factor 1 |
| Synonyms |
|
| MMRRC Submission |
040967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R4044 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44652372-44665537 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 44655798 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: T1027M
|
| SMART Domains |
Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
AA Change: T1027M
| 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: T1027M
|
| SMART Domains |
Protein: ENSMUSP00000114117
Gene: ENSMUSG00000038406
AA Change: T1027M
| 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: ENSMUST00000148227
AA Change: R1846C
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207129
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211735
AA Change: T1027M
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210056
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
| Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,939 (GRCm39) |
V384A |
probably benign |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
| Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,172,358 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
| L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
| Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
| Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pals1 |
G |
A |
12: 78,871,613 (GRCm39) |
E398K |
probably benign |
Het |
| Pramel26 |
T |
A |
4: 143,538,170 (GRCm39) |
N267I |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
| Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
| Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
| Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,843,899 (GRCm39) |
D979G |
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 |
|
|
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 |
|
|
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'- TTCTGCACGGACCAATCTCC -3'
(R):5'- TGAAGTCTCCTTCCTACCAGAGG -3'
Sequencing Primer
(F):5'- GGACCAATCTCCTCTGTTCCAATAG -3'
(R):5'- ACACTGGGGTCCGAGTAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation