Incidental Mutation 'R0414:Sfswap'
| ID |
40160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfswap
|
| Ensembl Gene |
ENSMUSG00000029439 |
| Gene Name |
splicing factor SWAP |
| Synonyms |
Sfrs8, 1190005N23Rik, 6330437E22Rik |
| MMRRC Submission |
038616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129578286-129648448 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129581115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 96
(D96G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053737]
[ENSMUST00000196698]
[ENSMUST00000200500]
|
| AlphaFold |
Q3USH5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053737
AA Change: D96G
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: D96G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
DRY_EERY
|
33 |
157 |
1.15e-57 |
SMART |
|
low complexity region
|
160 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
SWAP
|
209 |
262 |
3.94e-19 |
SMART |
|
low complexity region
|
286 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
441 |
N/A |
INTRINSIC |
|
SWAP
|
456 |
507 |
9.55e-18 |
SMART |
|
low complexity region
|
513 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
607 |
N/A |
INTRINSIC |
|
coiled coil region
|
631 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
821 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
905 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
920 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196147
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196698
AA Change: D96G
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142464
Gene: ENSMUSG00000029439
AA Change: D96G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
DRY_EERY
|
33 |
121 |
1.8e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199887
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200500
AA Change: T73A
|
| SMART Domains |
Protein: ENSMUSP00000143351
Gene: ENSMUSG00000029439
AA Change: T73A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199925
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
96% (64/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a wobbly phenotype with inner ear defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
| Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
| Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
| B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,193,526 (GRCm39) |
D400G |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
| Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
| Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
| Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
| Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
| Eps15 |
T |
A |
4: 109,223,677 (GRCm39) |
D485E |
probably damaging |
Het |
| Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
| Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
T |
A |
9: 26,676,400 (GRCm39) |
K487* |
probably null |
Het |
| H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
| Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
| Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
| Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
| Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
| Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
| Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,643,246 (GRCm39) |
H524L |
probably benign |
Het |
| Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
| Plcl2 |
A |
C |
17: 50,914,983 (GRCm39) |
D664A |
possibly damaging |
Het |
| Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
| Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
| Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,495,483 (GRCm39) |
S114G |
probably benign |
Het |
| Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
| Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
probably benign |
Het |
|
| Other mutations in Sfswap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Sfswap
|
APN |
5 |
129,590,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Sfswap
|
APN |
5 |
129,637,860 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02083:Sfswap
|
APN |
5 |
129,616,855 (GRCm39) |
missense |
probably benign |
|
|
IGL02378:Sfswap
|
APN |
5 |
129,616,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Sfswap
|
UTSW |
5 |
129,646,815 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:Sfswap
|
UTSW |
5 |
129,646,821 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Sfswap
|
UTSW |
5 |
129,646,813 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Sfswap
|
UTSW |
5 |
129,646,812 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Sfswap
|
UTSW |
5 |
129,646,819 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:Sfswap
|
UTSW |
5 |
129,646,813 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Sfswap
|
UTSW |
5 |
129,646,820 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Sfswap
|
UTSW |
5 |
129,646,815 (GRCm39) |
unclassified |
probably benign |
|
|
I1329:Sfswap
|
UTSW |
5 |
129,584,201 (GRCm39) |
unclassified |
probably benign |
|
|
P0033:Sfswap
|
UTSW |
5 |
129,616,819 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0184:Sfswap
|
UTSW |
5 |
129,584,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0233:Sfswap
|
UTSW |
5 |
129,631,607 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0233:Sfswap
|
UTSW |
5 |
129,631,607 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0415:Sfswap
|
UTSW |
5 |
129,581,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Sfswap
|
UTSW |
5 |
129,581,042 (GRCm39) |
splice site |
probably benign |
|
|
R1018:Sfswap
|
UTSW |
5 |
129,631,640 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1173:Sfswap
|
UTSW |
5 |
129,584,207 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1298:Sfswap
|
UTSW |
5 |
129,618,442 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1723:Sfswap
|
UTSW |
5 |
129,616,758 (GRCm39) |
missense |
probably benign |
|
|
R1783:Sfswap
|
UTSW |
5 |
129,590,304 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1828:Sfswap
|
UTSW |
5 |
129,590,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Sfswap
|
UTSW |
5 |
129,618,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2078:Sfswap
|
UTSW |
5 |
129,593,171 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2349:Sfswap
|
UTSW |
5 |
129,646,802 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3757:Sfswap
|
UTSW |
5 |
129,590,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Sfswap
|
UTSW |
5 |
129,637,805 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4094:Sfswap
|
UTSW |
5 |
129,637,805 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4095:Sfswap
|
UTSW |
5 |
129,637,805 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4785:Sfswap
|
UTSW |
5 |
129,590,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5139:Sfswap
|
UTSW |
5 |
129,648,073 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5355:Sfswap
|
UTSW |
5 |
129,616,810 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5481:Sfswap
|
UTSW |
5 |
129,591,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5600:Sfswap
|
UTSW |
5 |
129,590,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Sfswap
|
UTSW |
5 |
129,591,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5906:Sfswap
|
UTSW |
5 |
129,619,107 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6332:Sfswap
|
UTSW |
5 |
129,648,105 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6738:Sfswap
|
UTSW |
5 |
129,618,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6743:Sfswap
|
UTSW |
5 |
129,627,883 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Sfswap
|
UTSW |
5 |
129,620,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7747:Sfswap
|
UTSW |
5 |
129,627,657 (GRCm39) |
splice site |
probably null |
|
|
R8286:Sfswap
|
UTSW |
5 |
129,616,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8738:Sfswap
|
UTSW |
5 |
129,620,345 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8943:Sfswap
|
UTSW |
5 |
129,581,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9119:Sfswap
|
UTSW |
5 |
129,591,829 (GRCm39) |
missense |
probably benign |
|
|
R9587:Sfswap
|
UTSW |
5 |
129,618,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9601:Sfswap
|
UTSW |
5 |
129,618,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9718:Sfswap
|
UTSW |
5 |
129,616,848 (GRCm39) |
missense |
probably benign |
|
|
RF003:Sfswap
|
UTSW |
5 |
129,646,828 (GRCm39) |
unclassified |
probably benign |
|
|
RF042:Sfswap
|
UTSW |
5 |
129,646,807 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Sfswap
|
UTSW |
5 |
129,646,808 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTCGGTCTGTGTGAATGTAAGC -3'
(R):5'- GGTCCTCTCAGAACGCAAAGACTC -3'
Sequencing Primer
(F):5'- AAAGGATTGTCTGCCTTTAGCTC -3'
(R):5'- AATCCACTGGGTACTGTCAAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation