Incidental Mutation 'IGL01967:Strn3'
ID 181576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strn3
Ensembl Gene ENSMUSG00000020954
Gene Name striatin, calmodulin binding protein 3
Synonyms SG2NA
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01967
Quality Score
Status
Chromosome 12
Chromosomal Location 51656415-51738680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51699596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 192 (I192T)
Ref Sequence ENSEMBL: ENSMUSP00000130184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013130] [ENSMUST00000169503]
AlphaFold Q9ERG2
Predicted Effect probably damaging
Transcript: ENSMUST00000013130
AA Change: I192T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: I192T

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
low complexity region 31 55 N/A INTRINSIC
Pfam:Striatin 64 194 1.3e-50 PFAM
low complexity region 252 263 N/A INTRINSIC
low complexity region 349 367 N/A INTRINSIC
low complexity region 429 446 N/A INTRINSIC
WD40 468 507 7.05e-9 SMART
WD40 521 560 2.42e-7 SMART
WD40 574 613 1.62e-8 SMART
WD40 617 659 8.25e0 SMART
WD40 670 708 2.65e1 SMART
WD40 711 750 2.32e-9 SMART
WD40 753 796 4.95e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169503
AA Change: I192T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: I192T

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
low complexity region 31 55 N/A INTRINSIC
Pfam:Striatin 64 198 3.2e-51 PFAM
low complexity region 252 263 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
WD40 384 423 7.05e-9 SMART
WD40 437 476 2.42e-7 SMART
WD40 490 529 1.62e-8 SMART
WD40 533 575 8.25e0 SMART
WD40 586 624 2.65e1 SMART
WD40 627 666 2.32e-9 SMART
WD40 669 712 4.95e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,831,707 (GRCm39) L1215P probably damaging Het
Abce1 T C 8: 80,412,620 (GRCm39) D569G probably damaging Het
Adnp A G 2: 168,025,339 (GRCm39) V652A possibly damaging Het
Bco2 A G 9: 50,446,809 (GRCm39) I448T probably damaging Het
Cdh20 T A 1: 104,868,762 (GRCm39) H84Q probably damaging Het
Cep126 A G 9: 8,095,209 (GRCm39) probably null Het
Clca4b A G 3: 144,633,951 (GRCm39) probably benign Het
Fat2 T A 11: 55,202,649 (GRCm39) N142Y probably damaging Het
Gnaq C T 19: 16,355,524 (GRCm39) R247C probably damaging Het
Itprid1 A T 6: 55,874,896 (GRCm39) E282V probably damaging Het
Klf3 T C 5: 64,979,430 (GRCm39) S91P probably damaging Het
Lmtk2 C A 5: 144,119,597 (GRCm39) H1353N probably benign Het
Magi1 G T 6: 93,685,115 (GRCm39) H526Q probably damaging Het
Mecr A G 4: 131,589,192 (GRCm39) probably null Het
Mllt6 T C 11: 97,565,603 (GRCm39) F630L probably damaging Het
Nav1 T C 1: 135,464,983 (GRCm39) N274S probably damaging Het
Nmi T C 2: 51,846,052 (GRCm39) probably null Het
Or7e170 A G 9: 19,794,885 (GRCm39) S239P probably damaging Het
Perm1 G T 4: 156,302,118 (GRCm39) G221W probably damaging Het
Pikfyve T A 1: 65,303,524 (GRCm39) N1681K possibly damaging Het
Ptch2 T C 4: 116,971,430 (GRCm39) probably benign Het
Sc5d A T 9: 42,169,930 (GRCm39) L97Q possibly damaging Het
Scaf8 T A 17: 3,247,213 (GRCm39) N845K possibly damaging Het
Sema7a A G 9: 57,863,678 (GRCm39) K284E probably damaging Het
Slc16a3 G A 11: 120,847,864 (GRCm39) V351M probably damaging Het
Syne2 A C 12: 75,988,077 (GRCm39) D1745A probably damaging Het
Ttc13 T C 8: 125,439,386 (GRCm39) T123A probably damaging Het
Zbtb18 T A 1: 177,275,348 (GRCm39) V236D probably benign Het
Zfp438 T C 18: 5,214,049 (GRCm39) E303G probably benign Het
Zfp644 T C 5: 106,786,109 (GRCm39) Q146R probably damaging Het
Zfp972 A T 2: 177,563,495 (GRCm39) N38K probably damaging Het
Other mutations in Strn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Strn3 APN 12 51,707,979 (GRCm39) missense possibly damaging 0.63
IGL00690:Strn3 APN 12 51,657,221 (GRCm39) missense possibly damaging 0.96
IGL00886:Strn3 APN 12 51,656,933 (GRCm39) missense probably damaging 1.00
IGL02507:Strn3 APN 12 51,708,410 (GRCm39) nonsense probably null
IGL03139:Strn3 APN 12 51,699,633 (GRCm39) splice site probably benign
IGL03282:Strn3 APN 12 51,673,992 (GRCm39) missense probably benign 0.00
PIT4519001:Strn3 UTSW 12 51,680,491 (GRCm39) missense probably benign 0.00
R0106:Strn3 UTSW 12 51,668,571 (GRCm39) missense probably benign 0.01
R0106:Strn3 UTSW 12 51,668,571 (GRCm39) missense probably benign 0.01
R0336:Strn3 UTSW 12 51,708,391 (GRCm39) critical splice donor site probably null
R0492:Strn3 UTSW 12 51,657,187 (GRCm39) missense probably damaging 1.00
R0512:Strn3 UTSW 12 51,673,966 (GRCm39) missense possibly damaging 0.94
R0610:Strn3 UTSW 12 51,657,231 (GRCm39) critical splice acceptor site probably null
R0707:Strn3 UTSW 12 51,657,187 (GRCm39) missense probably damaging 1.00
R0834:Strn3 UTSW 12 51,673,879 (GRCm39) splice site probably benign
R1562:Strn3 UTSW 12 51,680,401 (GRCm39) missense probably benign
R1599:Strn3 UTSW 12 51,699,549 (GRCm39) missense possibly damaging 0.78
R1663:Strn3 UTSW 12 51,699,609 (GRCm39) missense probably damaging 1.00
R1807:Strn3 UTSW 12 51,673,986 (GRCm39) missense probably benign 0.10
R2263:Strn3 UTSW 12 51,690,006 (GRCm39) splice site probably null
R2443:Strn3 UTSW 12 51,674,618 (GRCm39) missense probably damaging 1.00
R3623:Strn3 UTSW 12 51,707,999 (GRCm39) missense possibly damaging 0.87
R3624:Strn3 UTSW 12 51,707,999 (GRCm39) missense possibly damaging 0.87
R4154:Strn3 UTSW 12 51,673,914 (GRCm39) missense probably damaging 1.00
R4223:Strn3 UTSW 12 51,674,638 (GRCm39) missense probably damaging 1.00
R4400:Strn3 UTSW 12 51,694,883 (GRCm39) missense possibly damaging 0.85
R4564:Strn3 UTSW 12 51,680,404 (GRCm39) missense probably benign 0.00
R4585:Strn3 UTSW 12 51,696,953 (GRCm39) missense probably benign 0.02
R4755:Strn3 UTSW 12 51,656,999 (GRCm39) missense possibly damaging 0.70
R4794:Strn3 UTSW 12 51,696,954 (GRCm39) missense probably benign 0.38
R5288:Strn3 UTSW 12 51,694,803 (GRCm39) missense probably damaging 1.00
R5308:Strn3 UTSW 12 51,676,168 (GRCm39) missense probably damaging 0.99
R5765:Strn3 UTSW 12 51,680,410 (GRCm39) missense probably benign
R5893:Strn3 UTSW 12 51,690,006 (GRCm39) splice site probably null
R5945:Strn3 UTSW 12 51,676,279 (GRCm39) missense probably benign 0.00
R6244:Strn3 UTSW 12 51,656,890 (GRCm39) missense probably damaging 0.98
R6523:Strn3 UTSW 12 51,689,881 (GRCm39) splice site probably null
R7437:Strn3 UTSW 12 51,656,946 (GRCm39) missense probably damaging 1.00
R7545:Strn3 UTSW 12 51,674,543 (GRCm39) missense probably damaging 0.98
R8299:Strn3 UTSW 12 51,694,890 (GRCm39) missense probably damaging 1.00
R8337:Strn3 UTSW 12 51,707,955 (GRCm39) missense probably damaging 1.00
R9141:Strn3 UTSW 12 51,694,873 (GRCm39) missense probably damaging 1.00
R9426:Strn3 UTSW 12 51,694,873 (GRCm39) missense probably damaging 1.00
R9501:Strn3 UTSW 12 51,696,956 (GRCm39) missense probably damaging 0.99
R9503:Strn3 UTSW 12 51,656,894 (GRCm39) missense possibly damaging 0.68
R9518:Strn3 UTSW 12 51,696,956 (GRCm39) missense probably damaging 0.99
R9563:Strn3 UTSW 12 51,674,300 (GRCm39) missense possibly damaging 0.92
R9630:Strn3 UTSW 12 51,657,013 (GRCm39) missense probably damaging 1.00
R9696:Strn3 UTSW 12 51,676,286 (GRCm39) missense probably damaging 1.00
X0024:Strn3 UTSW 12 51,699,492 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07