Incidental Mutation 'IGL02442:Sap25'
| ID |
293445 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sap25
|
| Ensembl Gene |
ENSMUSG00000079165 |
| Gene Name |
sin3 associated polypeptide |
| Synonyms |
25 kDa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137639735-137641164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137640257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 108
(N108K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000057314]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176667]
[ENSMUST00000177466]
[ENSMUST00000177545]
[ENSMUST00000196511]
[ENSMUST00000177477]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031734
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
642 |
9.24e-15 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057314
|
| SMART Domains |
Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
135 |
4.46e-11 |
SMART |
|
IRS
|
159 |
272 |
1.18e-30 |
SMART |
|
PTBI
|
159 |
272 |
7.23e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166099
AA Change: N89K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165
AA Change: N89K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAP25
|
76 |
261 |
1.8e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175968
|
| SMART Domains |
Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
LRR
|
36 |
58 |
4.84e1 |
SMART |
|
LRR_TYP
|
59 |
82 |
4.61e-5 |
SMART |
|
LRR
|
104 |
126 |
2.63e0 |
SMART |
|
LRR_TYP
|
127 |
150 |
1.1e-2 |
SMART |
|
LRR
|
172 |
195 |
3.98e1 |
SMART |
|
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
476 |
N/A |
INTRINSIC |
|
CH
|
479 |
588 |
9.24e-15 |
SMART |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176667
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
648 |
4.73e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177466
AA Change: N108K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177545
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
642 |
9.24e-15 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196511
|
| SMART Domains |
Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
135 |
4.46e-11 |
SMART |
|
IRS
|
159 |
272 |
1.18e-30 |
SMART |
|
PTBI
|
159 |
272 |
7.23e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177477
|
| SMART Domains |
Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176871
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,606,750 (GRCm39) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,266,316 (GRCm39) |
|
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 35,153,445 (GRCm39) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
| Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
| Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,206,369 (GRCm39) |
H408Q |
probably damaging |
Het |
| Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
| Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
| Sri |
T |
A |
5: 8,112,411 (GRCm39) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,646,080 (GRCm39) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
probably benign |
Het |
|
| Other mutations in Sap25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01996:Sap25
|
APN |
5 |
137,640,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02651:Sap25
|
APN |
5 |
137,640,632 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1464:Sap25
|
UTSW |
5 |
137,640,622 (GRCm39) |
nonsense |
probably null |
|
|
R1464:Sap25
|
UTSW |
5 |
137,640,622 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Sap25
|
UTSW |
5 |
137,640,180 (GRCm39) |
splice site |
probably null |
|
|
R2058:Sap25
|
UTSW |
5 |
137,641,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Sap25
|
UTSW |
5 |
137,640,891 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3768:Sap25
|
UTSW |
5 |
137,640,632 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4920:Sap25
|
UTSW |
5 |
137,640,507 (GRCm39) |
unclassified |
probably benign |
|
|
R5722:Sap25
|
UTSW |
5 |
137,639,713 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7340:Sap25
|
UTSW |
5 |
137,640,935 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7775:Sap25
|
UTSW |
5 |
137,640,186 (GRCm39) |
missense |
probably benign |
|
|
R9336:Sap25
|
UTSW |
5 |
137,639,985 (GRCm39) |
missense |
probably benign |
|
|
R9510:Sap25
|
UTSW |
5 |
137,640,494 (GRCm39) |
missense |
probably null |
0.89 |
|
R9776:Sap25
|
UTSW |
5 |
137,640,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation