Incidental Mutation 'R7580:Scaf4'
| ID |
586717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf4
|
| Ensembl Gene |
ENSMUSG00000022983 |
| Gene Name |
SR-related CTD-associated factor 4 |
| Synonyms |
Sra4, Srsf15, Sfrs15 |
| MMRRC Submission |
045664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.630)
|
| Stock # |
R7580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 90026740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1026
(Q1026*)
|
| 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 |
probably null
Transcript: ENSMUST00000039280
AA Change: Q1026*
|
| SMART Domains |
Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: Q1026*
| 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: Q1000*
|
| SMART Domains |
Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: Q1000*
| 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 |
probably null
Transcript: ENSMUST00000232371
AA Change: Q1001*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 60,993,040 (GRCm39) |
Y213F |
probably damaging |
Het |
| Adamdec1 |
A |
G |
14: 68,802,980 (GRCm39) |
S462P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 85,972,301 (GRCm39) |
C3S |
possibly damaging |
Het |
| Bag1 |
C |
T |
4: 40,947,836 (GRCm39) |
E123K |
probably benign |
Het |
| Brip1 |
A |
G |
11: 86,048,427 (GRCm39) |
L305P |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,700 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,837,146 (GRCm39) |
K205I |
probably damaging |
Het |
| Cmtr2 |
T |
A |
8: 110,948,309 (GRCm39) |
N206K |
probably damaging |
Het |
| Defb34 |
G |
A |
8: 19,176,426 (GRCm39) |
C39Y |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,296 (GRCm39) |
S881P |
possibly damaging |
Het |
| Dglucy |
C |
T |
12: 100,816,423 (GRCm39) |
A325V |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,994,077 (GRCm39) |
E3398G |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,183,130 (GRCm39) |
I96K |
probably damaging |
Het |
| Endov |
C |
T |
11: 119,390,692 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,430,245 (GRCm39) |
Q224L |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,704,613 (GRCm39) |
N431S |
possibly damaging |
Het |
| Gata3 |
A |
C |
2: 9,867,943 (GRCm39) |
V337G |
probably damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,432 (GRCm39) |
V83M |
probably damaging |
Het |
| Hgd |
C |
A |
16: 37,439,241 (GRCm39) |
P224H |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,908,374 (GRCm39) |
V330A |
probably damaging |
Het |
| Kiz |
C |
G |
2: 146,798,169 (GRCm39) |
I631M |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,265,118 (GRCm39) |
D366G |
probably benign |
Het |
| Lrmda |
C |
T |
14: 22,069,925 (GRCm39) |
|
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,906 (GRCm39) |
A220S |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,355,201 (GRCm39) |
C1505* |
probably null |
Het |
| Mmp20 |
C |
T |
9: 7,654,144 (GRCm39) |
R355* |
probably null |
Het |
| Mmp28 |
T |
A |
11: 83,335,658 (GRCm39) |
Q280L |
probably damaging |
Het |
| Mppe1 |
C |
T |
18: 67,370,488 (GRCm39) |
A70T |
probably damaging |
Het |
| Mtif3 |
T |
G |
5: 146,895,757 (GRCm39) |
D110A |
possibly damaging |
Het |
| Mtss2 |
G |
A |
8: 111,464,268 (GRCm39) |
R361H |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,591,483 (GRCm39) |
D542G |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,133,174 (GRCm39) |
C940R |
probably damaging |
Het |
| Nmur2 |
C |
T |
11: 55,917,808 (GRCm39) |
V394I |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,624 (GRCm39) |
H1736R |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,934 (GRCm39) |
I266T |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,827,611 (GRCm39) |
F182Y |
unknown |
Het |
| Purg |
A |
G |
8: 33,906,661 (GRCm39) |
Y317C |
possibly damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,765,013 (GRCm39) |
M880L |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,447,293 (GRCm39) |
F413L |
possibly damaging |
Het |
| Sart3 |
A |
T |
5: 113,892,440 (GRCm39) |
|
probably null |
Het |
| Slc26a1 |
A |
G |
5: 108,819,735 (GRCm39) |
L504P |
probably damaging |
Het |
| Slc35d1 |
C |
A |
4: 103,065,330 (GRCm39) |
V184L |
|
Het |
| Slc5a11 |
C |
T |
7: 122,864,421 (GRCm39) |
A339V |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,705,028 (GRCm39) |
M1780K |
probably benign |
Het |
| Tas1r2 |
G |
A |
4: 139,387,056 (GRCm39) |
D172N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,188,243 (GRCm39) |
I896M |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,624,752 (GRCm39) |
P1733S |
probably damaging |
Het |
| Thoc1 |
A |
T |
18: 9,986,343 (GRCm39) |
K358N |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
A |
C |
15: 88,818,132 (GRCm39) |
L181R |
probably damaging |
Het |
| Ubl4b |
G |
A |
3: 107,461,784 (GRCm39) |
Q159* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,893,732 (GRCm39) |
H967R |
not run |
Het |
| Zeb2 |
T |
C |
2: 44,884,544 (GRCm39) |
D1049G |
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 |
|
|
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'- CGTCATTACGGCTCCCATAC -3'
(R):5'- CACCTCACATGATGCACAGG -3'
Sequencing Primer
(F):5'- ATTACGGCTCCCATACCGTTC -3'
(R):5'- ACATGATGCACAGGGGGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation