Incidental Mutation 'R2925:Scaf4'
| ID |
255730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf4
|
| Ensembl Gene |
ENSMUSG00000022983 |
| Gene Name |
SR-related CTD-associated factor 4 |
| Synonyms |
Sra4, Srsf15, Sfrs15 |
| MMRRC Submission |
040510-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.637)
|
| Stock # |
R2925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90047177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 400
(P400Q)
|
| 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: P400Q
|
| SMART Domains |
Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: P400Q
| 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: P400Q
|
| SMART Domains |
Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
AA Change: P400Q
| 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: P400Q
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,755 (GRCm39) |
T93A |
probably damaging |
Het |
| Acte1 |
A |
T |
7: 143,437,736 (GRCm39) |
R147* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,626,349 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,910,202 (GRCm39) |
V168A |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,727,997 (GRCm39) |
E337G |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 37,061,271 (GRCm39) |
A3327S |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,665,984 (GRCm39) |
S283P |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,936,489 (GRCm39) |
E628K |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,821,907 (GRCm39) |
T1856M |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,857 (GRCm39) |
D30G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,597,919 (GRCm39) |
I74F |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,833,928 (GRCm39) |
K851* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,837 (GRCm39) |
C846S |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lyz3 |
C |
T |
10: 117,070,336 (GRCm39) |
R147Q |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,673,667 (GRCm39) |
G29S |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,706 (GRCm39) |
Y119* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,806,125 (GRCm39) |
C179* |
probably null |
Het |
| Or8k32 |
C |
T |
2: 86,368,891 (GRCm39) |
D121N |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,342 (GRCm39) |
S7R |
probably benign |
Het |
| P2ry13 |
G |
A |
3: 59,116,801 (GRCm39) |
H326Y |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Rc3h1 |
A |
G |
1: 160,782,546 (GRCm39) |
Y675C |
probably damaging |
Het |
| Samd3 |
T |
A |
10: 26,127,785 (GRCm39) |
S288T |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,958,240 (GRCm39) |
D22G |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,708,999 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tnks |
G |
A |
8: 35,432,815 (GRCm39) |
A2V |
unknown |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Zbed5 |
A |
G |
5: 129,932,039 (GRCm39) |
T663A |
possibly damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,447 (GRCm39) |
R8Q |
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 |
|
|
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'- CTGAAAAGTTGATTGGAAAGTTGGC -3'
(R):5'- AGAAACCGGGTAGCTTTTCTC -3'
Sequencing Primer
(F):5'- AAAGTTGATTGGAAAGTTGGCTGTAC -3'
(R):5'- CCGGGTAGCTTTTCTCAATTAAAATG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation