Incidental Mutation 'IGL01122:Scaf4'
ID |
52950 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Scaf4
|
Ensembl Gene |
ENSMUSG00000022983 |
Gene Name |
SR-related CTD-associated factor 4 |
Synonyms |
Sra4, Srsf15, Sfrs15 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.630)
|
Stock # |
IGL01122
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90045518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 528
(S528P)
|
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: S531P
|
SMART Domains |
Protein: ENSMUSP00000044472 Gene: ENSMUSG00000022983 AA Change: S531P
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: S527P
|
SMART Domains |
Protein: ENSMUSP00000132250 Gene: ENSMUSG00000022983 AA Change: S527P
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 |
unknown
Transcript: ENSMUST00000232371
AA Change: S528P
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
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 |
|
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 |
|
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 |
|
|
Posted On |
2013-06-21 |