Incidental Mutation 'R2077:Scaf4'
| ID |
229243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf4
|
| Ensembl Gene |
ENSMUSG00000022983 |
| Gene Name |
SR-related CTD-associated factor 4 |
| Synonyms |
Sra4, Srsf15, Sfrs15 |
| MMRRC Submission |
040082-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.637)
|
| Stock # |
R2077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90049323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 255
(F255I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039280]
[ENSMUST00000163419]
[ENSMUST00000232371]
|
| AlphaFold |
Q7TSH6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000039280
AA Change: F255I
|
| SMART Domains |
Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: F255I
| 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 |
unknown
Transcript: ENSMUST00000163419
AA Change: F255I
|
| SMART Domains |
Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: F255I
| 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: ENSMUST00000231572
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232371
AA Change: F255I
|
| Meta Mutation Damage Score |
0.1976 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
| Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
| Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
| Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
| Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
| Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
| Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
| Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
| Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
| Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,586,143 (GRCm39) |
V149A |
possibly damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
probably damaging |
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 |
|
|
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 |
|
|
R6470:Scaf4
|
UTSW |
16 |
90,026,526 (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'- ACTCACAATGGGGTCTGTGGAG -3'
(R):5'- ACACTGCTTTCATCATTGGAAAAGG -3'
Sequencing Primer
(F):5'- TCTGTGGAGGAGGGGGAG -3'
(R):5'- CTAACGTGCACTTAGTCAAAATTGCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation