Incidental Mutation 'R6470:Scaf4'
| ID |
516494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf4
|
| Ensembl Gene |
ENSMUSG00000022983 |
| Gene Name |
SR-related CTD-associated factor 4 |
| Synonyms |
Sra4, Srsf15, Sfrs15 |
| MMRRC Submission |
044603-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.630)
|
| Stock # |
R6470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 90026526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 1072
(W1072*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023707]
[ENSMUST00000039280]
[ENSMUST00000163419]
[ENSMUST00000232371]
|
| AlphaFold |
Q7TSH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023707
|
| SMART Domains |
Protein: ENSMUSP00000023707
Gene: ENSMUSG00000022982
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sod_Cu
|
9 |
150 |
2.2e-51 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000039280
AA Change: W1097*
|
| SMART Domains |
Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: W1097*
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
6 |
136 |
7.8e-48 |
SMART |
|
low complexity region
|
190 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
558 |
N/A |
INTRINSIC |
|
RRM
|
574 |
643 |
7.47e-14 |
SMART |
|
low complexity region
|
719 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
937 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1082 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163419
AA Change: W1071*
|
| SMART Domains |
Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: W1071*
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
6 |
136 |
7.8e-48 |
SMART |
|
low complexity region
|
190 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
554 |
N/A |
INTRINSIC |
|
RRM
|
570 |
639 |
7.47e-14 |
SMART |
|
low complexity region
|
715 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
957 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1070 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232000
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232371
AA Change: W1072*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232505
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,815,285 (GRCm39) |
Q12L |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,611,081 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
| Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
| Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,102,199 (GRCm39) |
D166G |
probably damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
| Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
| Sardh |
C |
T |
2: 27,134,384 (GRCm39) |
R44Q |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,791 (GRCm39) |
K201E |
probably damaging |
Het |
| Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,918 (GRCm39) |
D90G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
probably benign |
Het |
|
| Other mutations in Scaf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Scaf4
|
APN |
16 |
90,044,169 (GRCm39) |
missense |
unknown |
|
|
IGL00536:Scaf4
|
APN |
16 |
90,054,250 (GRCm39) |
missense |
unknown |
|
|
IGL01122:Scaf4
|
APN |
16 |
90,045,518 (GRCm39) |
missense |
unknown |
|
|
IGL02015:Scaf4
|
APN |
16 |
90,055,734 (GRCm39) |
missense |
unknown |
|
|
IGL02074:Scaf4
|
APN |
16 |
90,039,808 (GRCm39) |
missense |
unknown |
|
|
IGL02555:Scaf4
|
APN |
16 |
90,047,193 (GRCm39) |
missense |
unknown |
|
|
IGL02735:Scaf4
|
APN |
16 |
90,042,403 (GRCm39) |
missense |
unknown |
|
|
FR4304:Scaf4
|
UTSW |
16 |
90,026,742 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Scaf4
|
UTSW |
16 |
90,026,742 (GRCm39) |
small deletion |
probably benign |
|
|
R0217:Scaf4
|
UTSW |
16 |
90,039,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0410:Scaf4
|
UTSW |
16 |
90,057,058 (GRCm39) |
missense |
unknown |
|
|
R0681:Scaf4
|
UTSW |
16 |
90,046,582 (GRCm39) |
missense |
unknown |
|
|
R1099:Scaf4
|
UTSW |
16 |
90,059,986 (GRCm39) |
missense |
unknown |
|
|
R1510:Scaf4
|
UTSW |
16 |
90,042,282 (GRCm39) |
missense |
unknown |
|
|
R1694:Scaf4
|
UTSW |
16 |
90,026,745 (GRCm39) |
small deletion |
probably benign |
|
|
R2077:Scaf4
|
UTSW |
16 |
90,049,323 (GRCm39) |
missense |
unknown |
|
|
R2087:Scaf4
|
UTSW |
16 |
90,049,313 (GRCm39) |
missense |
unknown |
|
|
R2182:Scaf4
|
UTSW |
16 |
90,027,028 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2698:Scaf4
|
UTSW |
16 |
90,041,244 (GRCm39) |
missense |
unknown |
|
|
R2925:Scaf4
|
UTSW |
16 |
90,047,177 (GRCm39) |
missense |
unknown |
|
|
R3025:Scaf4
|
UTSW |
16 |
90,048,826 (GRCm39) |
missense |
unknown |
|
|
R3236:Scaf4
|
UTSW |
16 |
90,057,105 (GRCm39) |
missense |
unknown |
|
|
R4207:Scaf4
|
UTSW |
16 |
90,057,103 (GRCm39) |
missense |
unknown |
|
|
R4584:Scaf4
|
UTSW |
16 |
90,026,403 (GRCm39) |
unclassified |
probably benign |
|
|
R4735:Scaf4
|
UTSW |
16 |
90,049,320 (GRCm39) |
missense |
unknown |
|
|
R4835:Scaf4
|
UTSW |
16 |
90,047,195 (GRCm39) |
missense |
unknown |
|
|
R4969:Scaf4
|
UTSW |
16 |
90,048,831 (GRCm39) |
nonsense |
probably null |
|
|
R5174:Scaf4
|
UTSW |
16 |
90,044,062 (GRCm39) |
missense |
unknown |
|
|
R5568:Scaf4
|
UTSW |
16 |
90,026,745 (GRCm39) |
small deletion |
probably benign |
|
|
R5615:Scaf4
|
UTSW |
16 |
90,048,848 (GRCm39) |
missense |
unknown |
|
|
R5638:Scaf4
|
UTSW |
16 |
90,041,198 (GRCm39) |
missense |
unknown |
|
|
R6364:Scaf4
|
UTSW |
16 |
90,057,136 (GRCm39) |
nonsense |
probably null |
|
|
R7049:Scaf4
|
UTSW |
16 |
90,057,075 (GRCm39) |
missense |
unknown |
|
|
R7198:Scaf4
|
UTSW |
16 |
90,049,318 (GRCm39) |
missense |
unknown |
|
|
R7446:Scaf4
|
UTSW |
16 |
90,055,658 (GRCm39) |
missense |
unknown |
|
|
R7501:Scaf4
|
UTSW |
16 |
90,026,964 (GRCm39) |
missense |
unknown |
|
|
R7580:Scaf4
|
UTSW |
16 |
90,026,740 (GRCm39) |
nonsense |
probably null |
|
|
R7631:Scaf4
|
UTSW |
16 |
90,026,445 (GRCm39) |
missense |
unknown |
|
|
R8380:Scaf4
|
UTSW |
16 |
90,057,133 (GRCm39) |
missense |
unknown |
|
|
R8963:Scaf4
|
UTSW |
16 |
90,026,745 (GRCm39) |
small deletion |
probably benign |
|
|
R9149:Scaf4
|
UTSW |
16 |
90,027,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9468:Scaf4
|
UTSW |
16 |
90,026,287 (GRCm39) |
missense |
unknown |
|
|
R9696:Scaf4
|
UTSW |
16 |
90,044,122 (GRCm39) |
missense |
unknown |
|
|
R9798:Scaf4
|
UTSW |
16 |
90,045,533 (GRCm39) |
missense |
unknown |
|
|
X0013:Scaf4
|
UTSW |
16 |
90,049,179 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTTTGTTACCACCTGC -3'
(R):5'- ACATGGCCCCTTTGTTAGGC -3'
Sequencing Primer
(F):5'- GTTACCACCTGCCCTGTCTG -3'
(R):5'- CCCGGGAGCATCAGAAGAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation