Incidental Mutation 'R0217:Scaf4'
| ID |
33639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf4
|
| Ensembl Gene |
ENSMUSG00000022983 |
| Gene Name |
SR-related CTD-associated factor 4 |
| Synonyms |
Sra4, Srsf15, Sfrs15 |
| MMRRC Submission |
038466-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.637)
|
| Stock # |
R0217 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
90022568-90081391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90039570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 843
(D843G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039280]
[ENSMUST00000163419]
[ENSMUST00000232371]
|
| AlphaFold |
Q7TSH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039280
AA Change: D843G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044472
Gene: ENSMUSG00000022983
AA Change: D843G
| 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 benign
Transcript: ENSMUST00000163419
|
| SMART Domains |
Protein: ENSMUSP00000132250
Gene: ENSMUSG00000022983
| 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: ENSMUST00000231443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231594
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232371
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,447,956 (GRCm39) |
|
probably benign |
Het |
| Actr3 |
A |
G |
1: 125,335,150 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,933 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,879,940 (GRCm39) |
V310A |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,912 (GRCm39) |
S2048R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,618 (GRCm39) |
S421T |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccdc150 |
T |
G |
1: 54,339,589 (GRCm39) |
S478A |
possibly damaging |
Het |
| Ccnyl1 |
T |
A |
1: 64,752,257 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,784,718 (GRCm39) |
T15A |
unknown |
Het |
| Cdk19 |
C |
T |
10: 40,352,254 (GRCm39) |
|
probably benign |
Het |
| Comp |
A |
C |
8: 70,831,558 (GRCm39) |
D420A |
probably damaging |
Het |
| Ctnnal1 |
T |
C |
4: 56,813,230 (GRCm39) |
H667R |
probably benign |
Het |
| Cyp20a1 |
C |
A |
1: 60,382,625 (GRCm39) |
|
probably benign |
Het |
| Eci3 |
A |
C |
13: 35,132,072 (GRCm39) |
S259A |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,969,689 (GRCm39) |
D126G |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,387,649 (GRCm39) |
M124T |
possibly damaging |
Het |
| Gm12790 |
T |
C |
4: 101,825,231 (GRCm39) |
Y61C |
probably damaging |
Het |
| Hmgcr |
A |
C |
13: 96,788,488 (GRCm39) |
I777S |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,597,311 (GRCm39) |
E100G |
probably damaging |
Het |
| Itgb2 |
G |
T |
10: 77,384,370 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,274,050 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,550,029 (GRCm39) |
S2333P |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,524,353 (GRCm39) |
L365P |
possibly damaging |
Het |
| Map2k5 |
A |
T |
9: 63,164,257 (GRCm39) |
|
probably null |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,063,504 (GRCm39) |
L2620Q |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,400 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,891,552 (GRCm39) |
N286S |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,214 (GRCm39) |
V150E |
possibly damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,505 (GRCm39) |
H135N |
probably benign |
Het |
| Pank3 |
T |
A |
11: 35,668,555 (GRCm39) |
D181E |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,981,302 (GRCm39) |
|
probably null |
Het |
| Plag1 |
A |
C |
4: 3,904,379 (GRCm39) |
S271A |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,906 (GRCm39) |
I280N |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,940,687 (GRCm39) |
V1007A |
probably benign |
Het |
| Ppm1h |
T |
A |
10: 122,756,640 (GRCm39) |
D428E |
probably damaging |
Het |
| Prelid2 |
A |
T |
18: 42,068,317 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,393,830 (GRCm39) |
Y881C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,785,738 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,542,387 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
C |
T |
12: 104,096,986 (GRCm39) |
A89V |
probably damaging |
Het |
| Serpinb9d |
C |
A |
13: 33,382,005 (GRCm39) |
T158N |
possibly damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,874,700 (GRCm39) |
V201I |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,301,279 (GRCm39) |
N189K |
probably damaging |
Het |
| Smco1 |
G |
T |
16: 32,092,599 (GRCm39) |
R90L |
possibly damaging |
Het |
| Stim1 |
T |
A |
7: 102,085,007 (GRCm39) |
M653K |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,882 (GRCm39) |
S437G |
possibly damaging |
Het |
| Stxbp3-ps |
T |
G |
19: 9,536,496 (GRCm39) |
|
noncoding transcript |
Het |
| Tgtp1 |
A |
C |
11: 48,878,146 (GRCm39) |
S186R |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 56,937,581 (GRCm39) |
W570* |
probably null |
Het |
| Trpv4 |
C |
A |
5: 114,772,722 (GRCm39) |
R289L |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,634 (GRCm39) |
M206V |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,544,336 (GRCm39) |
V653E |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,148,953 (GRCm39) |
R64G |
probably benign |
Het |
| Zfp661 |
C |
T |
2: 127,419,211 (GRCm39) |
E310K |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,112 (GRCm39) |
I352N |
possibly damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,293 (GRCm39) |
L863P |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,779,894 (GRCm39) |
I1889N |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCCTTAAAGGAGCATTGCACGG -3'
(R):5'- ACACTGGCTTGCTTGAGAATACCC -3'
Sequencing Primer
(F):5'- GGGATGGTACTTTGCCAAAATTC -3'
(R):5'- TTAGGCTCTGAGATGAAGTCAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation