Incidental Mutation 'IGL01779:Stambpl1'
| ID |
153897 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stambpl1
|
| Ensembl Gene |
ENSMUSG00000024776 |
| Gene Name |
STAM binding protein like 1 |
| Synonyms |
1700095N21Rik, 8230401J17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL01779
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34169629-34217733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34217427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 422
(H422L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039631]
[ENSMUST00000054956]
[ENSMUST00000119603]
|
| AlphaFold |
Q76N33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039631
|
| SMART Domains |
Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
7 |
377 |
9.92e-237 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054956
AA Change: H422L
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
AA Change: H422L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
19 |
132 |
3e-21 |
PFAM |
|
coiled coil region
|
149 |
176 |
N/A |
INTRINSIC |
|
JAB_MPN
|
268 |
394 |
4.29e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119603
AA Change: H422L
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
AA Change: H422L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
19 |
132 |
3.9e-21 |
PFAM |
|
coiled coil region
|
149 |
176 |
N/A |
INTRINSIC |
|
JAB_MPN
|
268 |
394 |
4.29e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125232
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,346 (GRCm39) |
I167V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
| Col8a1 |
A |
T |
16: 57,448,726 (GRCm39) |
H261Q |
unknown |
Het |
| Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
| Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
C |
T |
12: 8,391,945 (GRCm39) |
T349I |
probably benign |
Het |
| Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,870,672 (GRCm39) |
M528V |
probably benign |
Het |
| Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
| Trim67 |
G |
A |
8: 125,554,860 (GRCm39) |
G701R |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
Het |
|
| Other mutations in Stambpl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Stambpl1
|
APN |
19 |
34,217,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01817:Stambpl1
|
APN |
19 |
34,211,393 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02582:Stambpl1
|
APN |
19 |
34,212,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1639:Stambpl1
|
UTSW |
19 |
34,213,707 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1707:Stambpl1
|
UTSW |
19 |
34,216,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Stambpl1
|
UTSW |
19 |
34,204,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1768:Stambpl1
|
UTSW |
19 |
34,204,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1887:Stambpl1
|
UTSW |
19 |
34,213,808 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2150:Stambpl1
|
UTSW |
19 |
34,204,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Stambpl1
|
UTSW |
19 |
34,213,754 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4342:Stambpl1
|
UTSW |
19 |
34,211,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4689:Stambpl1
|
UTSW |
19 |
34,213,691 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5533:Stambpl1
|
UTSW |
19 |
34,211,316 (GRCm39) |
splice site |
probably null |
|
|
R5647:Stambpl1
|
UTSW |
19 |
34,211,686 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6353:Stambpl1
|
UTSW |
19 |
34,211,520 (GRCm39) |
splice site |
probably null |
|
|
R6402:Stambpl1
|
UTSW |
19 |
34,211,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7334:Stambpl1
|
UTSW |
19 |
34,204,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Stambpl1
|
UTSW |
19 |
34,204,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Stambpl1
|
UTSW |
19 |
34,213,721 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8257:Stambpl1
|
UTSW |
19 |
34,208,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8341:Stambpl1
|
UTSW |
19 |
34,211,401 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9163:Stambpl1
|
UTSW |
19 |
34,212,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9694:Stambpl1
|
UTSW |
19 |
34,211,535 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Stambpl1
|
UTSW |
19 |
34,204,027 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2014-02-04 |
Incidental Mutation