Incidental Mutation 'R6402:Stambpl1'
| ID |
516209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stambpl1
|
| Ensembl Gene |
ENSMUSG00000024776 |
| Gene Name |
STAM binding protein like 1 |
| Synonyms |
1700095N21Rik, 8230401J17Rik |
| MMRRC Submission |
044419-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34169629-34217733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34211539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 200
(P200Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054956]
[ENSMUST00000119603]
[ENSMUST00000129535]
|
| AlphaFold |
Q76N33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054956
AA Change: P200Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
AA Change: P200Q
| 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 |
probably benign
Transcript: ENSMUST00000119603
AA Change: P200Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
AA Change: P200Q
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129535
|
| SMART Domains |
Protein: ENSMUSP00000115333
Gene: ENSMUSG00000024776
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
19 |
112 |
5.8e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130756
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
A |
9: 103,976,144 (GRCm39) |
I268F |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,563,803 (GRCm39) |
V514A |
possibly damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,524 (GRCm39) |
G480W |
probably damaging |
Het |
| Cbarp |
A |
G |
10: 79,970,956 (GRCm39) |
I247T |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,108 (GRCm39) |
Y172H |
probably damaging |
Het |
| Creld2 |
C |
T |
15: 88,707,344 (GRCm39) |
R221C |
probably damaging |
Het |
| Dmac1 |
C |
T |
4: 75,196,217 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
A |
G |
14: 78,177,318 (GRCm39) |
E166G |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,960,407 (GRCm39) |
F64S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,801,352 (GRCm39) |
H538L |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,111 (GRCm39) |
|
probably null |
Het |
| Mettl8 |
A |
T |
2: 70,796,805 (GRCm39) |
Y98* |
probably null |
Het |
| Naip6 |
G |
T |
13: 100,437,226 (GRCm39) |
H432Q |
probably benign |
Het |
| Sirt4 |
C |
T |
5: 115,618,370 (GRCm39) |
V235M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,283,389 (GRCm39) |
H827R |
probably benign |
Het |
| Slc23a3 |
T |
C |
1: 75,105,200 (GRCm39) |
N456S |
probably damaging |
Het |
| Slc9a1 |
C |
A |
4: 133,097,962 (GRCm39) |
H36Q |
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,164,041 (GRCm39) |
T70A |
probably damaging |
Het |
| Trio |
T |
A |
15: 27,902,997 (GRCm39) |
I155L |
probably benign |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,444 (GRCm39) |
V120A |
probably benign |
Het |
| Wac |
A |
G |
18: 7,901,585 (GRCm39) |
S77G |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,886,987 (GRCm39) |
T675I |
probably damaging |
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 |
|
IGL01779:Stambpl1
|
APN |
19 |
34,217,427 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAAGGACTGAAACTATCTTTC -3'
(R):5'- AGGTCAGATGTGCCTGCATC -3'
Sequencing Primer
(F):5'- GTTTGATGTTTTTGGCTCAGAAAAC -3'
(R):5'- GATGTGCCTGCATCCGACATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation