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
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01779
Quality Score
Status
Chromosome 19
Chromosomal Location 34192229-34240333 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34240027 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Stambpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Stambpl1 APN 19 34240030 missense probably damaging 1.00
IGL01817:Stambpl1 APN 19 34233993 missense possibly damaging 0.67
IGL02582:Stambpl1 APN 19 34235212 missense probably benign 0.01
R1639:Stambpl1 UTSW 19 34236307 missense probably benign 0.11
R1707:Stambpl1 UTSW 19 34238821 missense probably damaging 1.00
R1732:Stambpl1 UTSW 19 34226721 missense probably damaging 0.99
R1768:Stambpl1 UTSW 19 34226721 missense probably damaging 0.99
R1887:Stambpl1 UTSW 19 34236408 missense probably benign 0.38
R2150:Stambpl1 UTSW 19 34226704 missense probably damaging 1.00
R2362:Stambpl1 UTSW 19 34236354 missense probably benign 0.31
R4342:Stambpl1 UTSW 19 34234046 missense probably benign 0.00
R4689:Stambpl1 UTSW 19 34236291 missense probably benign 0.11
R5533:Stambpl1 UTSW 19 34233916 splice site probably null
R5647:Stambpl1 UTSW 19 34234286 missense probably benign 0.03
R6353:Stambpl1 UTSW 19 34234120 splice site probably null
R6402:Stambpl1 UTSW 19 34234139 missense probably benign 0.00
R7334:Stambpl1 UTSW 19 34226648 missense probably damaging 1.00
R7413:Stambpl1 UTSW 19 34226716 missense probably damaging 1.00
R7728:Stambpl1 UTSW 19 34236321 missense possibly damaging 0.59
R8257:Stambpl1 UTSW 19 34231501 missense probably damaging 0.99
R8341:Stambpl1 UTSW 19 34234001 missense probably benign 0.44
R9163:Stambpl1 UTSW 19 34235234 missense probably benign 0.01
R9694:Stambpl1 UTSW 19 34234135 missense probably benign
Z1088:Stambpl1 UTSW 19 34226627 missense probably damaging 0.96
Posted On 2014-02-04