Incidental Mutation 'R7631:Scaf4'
| ID |
589663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf4
|
| Ensembl Gene |
ENSMUSG00000022983 |
| Gene Name |
SR-related CTD-associated factor 4 |
| Synonyms |
Sra4, Srsf15, Sfrs15 |
| MMRRC Submission |
045692-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.630)
|
| Stock # |
R7631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90026445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1124
(D1124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044472
(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 |
unknown
Transcript: ENSMUST00000039280
AA Change: D1124G
|
| SMART Domains |
Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: D1124G
| 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: D1098G
|
| SMART Domains |
Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: D1098G
| 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 |
unknown
Transcript: ENSMUST00000232371
AA Change: D1099G
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
87% (46/53) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,834,606 (GRCm39) |
L930H |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,727,531 (GRCm39) |
L383S |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,109,276 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 97,015,462 (GRCm39) |
H1577R |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,302,694 (GRCm39) |
N9S |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,279,079 (GRCm39) |
V491A |
possibly damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,285,865 (GRCm39) |
L57Q |
possibly damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,763 (GRCm39) |
Q150L |
possibly damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,363 (GRCm39) |
Y1336* |
probably null |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,445 (GRCm39) |
T1796A |
probably benign |
Het |
| Defa27 |
T |
A |
8: 21,805,657 (GRCm39) |
D32E |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,744,019 (GRCm39) |
E96G |
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,311,069 (GRCm39) |
Y380F |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,890,195 (GRCm39) |
N243K |
probably damaging |
Het |
| Fndc7 |
G |
A |
3: 108,776,568 (GRCm39) |
A491V |
probably damaging |
Het |
| Gm14305 |
A |
G |
2: 176,410,790 (GRCm39) |
Q15R |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,213,291 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,624,513 (GRCm39) |
H360R |
probably damaging |
Het |
| Ifi203 |
G |
A |
1: 173,754,688 (GRCm39) |
T681I |
unknown |
Het |
| Klc2 |
A |
G |
19: 5,158,647 (GRCm39) |
S616P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,258 (GRCm39) |
Y704C |
probably damaging |
Het |
| Lingo4 |
A |
C |
3: 94,306,767 (GRCm39) |
D15A |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,795,884 (GRCm39) |
N286Y |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,669,963 (GRCm39) |
T374A |
not run |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,576,791 (GRCm39) |
T847A |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,825 (GRCm39) |
M763K |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or1p4-ps1 |
A |
C |
11: 74,208,357 (GRCm39) |
T169P |
unknown |
Het |
| Or2r3 |
T |
A |
6: 42,448,870 (GRCm39) |
M81L |
probably benign |
Het |
| Or5m11 |
A |
T |
2: 85,782,218 (GRCm39) |
E270D |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,092,002 (GRCm39) |
V39E |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Pabpc4 |
T |
G |
4: 123,182,763 (GRCm39) |
D133E |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,542,144 (GRCm39) |
C816S |
probably damaging |
Het |
| Pgm2 |
A |
G |
5: 64,265,522 (GRCm39) |
T408A |
possibly damaging |
Het |
| Polr2m |
G |
C |
9: 71,390,757 (GRCm39) |
Y148* |
probably null |
Het |
| Reln |
T |
C |
5: 22,176,933 (GRCm39) |
N1911S |
probably damaging |
Het |
| Scgb1b19 |
C |
T |
7: 32,986,784 (GRCm39) |
T18I |
probably damaging |
Het |
| Septin12 |
T |
A |
16: 4,814,320 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,539,491 (GRCm39) |
M22K |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smchd1 |
A |
G |
17: 71,705,684 (GRCm39) |
F972L |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,409 (GRCm39) |
Y85C |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,247 (GRCm39) |
V557I |
possibly damaging |
Het |
| Tcirg1 |
G |
T |
19: 3,947,160 (GRCm39) |
Q634K |
probably damaging |
Het |
| Tma7 |
T |
A |
9: 108,911,507 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
A |
G |
17: 25,299,414 (GRCm39) |
L35P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Tubb2a |
A |
G |
13: 34,259,227 (GRCm39) |
S188P |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,029,751 (GRCm39) |
L485F |
|
Het |
| Vmn1r71 |
A |
T |
7: 10,482,378 (GRCm39) |
S103R |
probably damaging |
Het |
| Vmn2r40 |
C |
T |
7: 8,911,119 (GRCm39) |
D725N |
|
Het |
| Zfp473 |
T |
C |
7: 44,383,128 (GRCm39) |
R402G |
possibly damaging |
Het |
| Zfp82 |
A |
T |
7: 29,755,851 (GRCm39) |
S410R |
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 |
|
|
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 |
|
|
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'- TTCAGGCTTTACCACCGTGG -3'
(R):5'- AGGCAGCAGTTCAACTCAG -3'
Sequencing Primer
(F):5'- TTTACCACCGTGGCCATGG -3'
(R):5'- AAAGGTTTGGAAGAAGATCTTTTGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation