Incidental Mutation 'IGL00776:Strn4'
ID 14288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strn4
Ensembl Gene ENSMUSG00000030374
Gene Name striatin, calmodulin binding protein 4
Synonyms ZIN, zinedin
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # IGL00776
Quality Score
Status
Chromosome 7
Chromosomal Location 16549814-16574856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16564377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 185 (R185C)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000108495] [ENSMUST00000185011]
AlphaFold P58404
Predicted Effect probably damaging
Transcript: ENSMUST00000019220
AA Change: R336C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: R336C

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 21 60 N/A INTRINSIC
Pfam:Striatin 64 193 1.2e-44 PFAM
low complexity region 217 236 N/A INTRINSIC
low complexity region 272 284 N/A INTRINSIC
low complexity region 304 314 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
WD40 434 473 5.72e-9 SMART
WD40 487 526 6.53e-4 SMART
WD40 540 579 6.99e-13 SMART
WD40 584 626 2.38e1 SMART
WD40 629 672 3.55e1 SMART
WD40 675 714 5.34e-9 SMART
WD40 717 760 1.58e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108495
AA Change: R336C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: R336C

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 21 60 N/A INTRINSIC
Pfam:Striatin 64 197 1.4e-45 PFAM
low complexity region 217 236 N/A INTRINSIC
low complexity region 272 284 N/A INTRINSIC
low complexity region 304 314 N/A INTRINSIC
low complexity region 367 382 N/A INTRINSIC
low complexity region 409 422 N/A INTRINSIC
WD40 427 466 5.72e-9 SMART
WD40 480 519 6.53e-4 SMART
WD40 533 572 6.99e-13 SMART
WD40 577 619 2.38e1 SMART
WD40 622 665 3.55e1 SMART
WD40 668 707 5.34e-9 SMART
WD40 710 753 1.58e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134350
Predicted Effect probably damaging
Transcript: ENSMUST00000184708
AA Change: R185C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138070
Predicted Effect probably benign
Transcript: ENSMUST00000185011
SMART Domains Protein: ENSMUSP00000139290
Gene: ENSMUSG00000030374

DomainStartEndE-ValueType
low complexity region 33 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184280
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,545,182 (GRCm39) D90E probably benign Het
Abcb5 T C 12: 118,883,589 (GRCm39) S560G probably damaging Het
Ankrd24 A C 10: 81,478,979 (GRCm39) probably benign Het
Atp8a1 A T 5: 67,906,486 (GRCm39) I461N probably benign Het
Eif4a1 G A 11: 69,559,922 (GRCm39) L166F probably damaging Het
Herc1 T A 9: 66,328,320 (GRCm39) H1542Q probably benign Het
Itih4 G A 14: 30,611,561 (GRCm39) V95I probably benign Het
Kcnh7 A G 2: 62,680,720 (GRCm39) I289T probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Mterf1a A C 5: 3,941,809 (GRCm39) W20G possibly damaging Het
Slc24a5 T C 2: 124,922,809 (GRCm39) S161P probably damaging Het
Slc25a21 G A 12: 56,816,990 (GRCm39) T99I probably benign Het
Smurf1 A G 5: 144,818,584 (GRCm39) S619P probably benign Het
Sorbs1 C T 19: 40,332,795 (GRCm39) probably null Het
Tctn3 A G 19: 40,585,865 (GRCm39) F560S probably damaging Het
Other mutations in Strn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Strn4 APN 7 16,571,846 (GRCm39) missense probably damaging 1.00
IGL01748:Strn4 APN 7 16,572,227 (GRCm39) missense probably damaging 1.00
IGL03227:Strn4 APN 7 16,571,639 (GRCm39) missense possibly damaging 0.79
BB004:Strn4 UTSW 7 16,560,556 (GRCm39) missense probably null 1.00
BB014:Strn4 UTSW 7 16,560,556 (GRCm39) missense probably null 1.00
PIT4260001:Strn4 UTSW 7 16,556,434 (GRCm39) missense probably damaging 1.00
R0948:Strn4 UTSW 7 16,571,638 (GRCm39) nonsense probably null
R1876:Strn4 UTSW 7 16,572,207 (GRCm39) missense probably damaging 1.00
R1918:Strn4 UTSW 7 16,567,846 (GRCm39) missense probably damaging 1.00
R2015:Strn4 UTSW 7 16,566,953 (GRCm39) missense possibly damaging 0.85
R2250:Strn4 UTSW 7 16,560,391 (GRCm39) missense probably damaging 1.00
R3435:Strn4 UTSW 7 16,571,558 (GRCm39) missense possibly damaging 0.86
R3686:Strn4 UTSW 7 16,556,506 (GRCm39) missense probably damaging 1.00
R3688:Strn4 UTSW 7 16,556,506 (GRCm39) missense probably damaging 1.00
R3887:Strn4 UTSW 7 16,556,923 (GRCm39) unclassified probably benign
R4613:Strn4 UTSW 7 16,558,088 (GRCm39) missense possibly damaging 0.50
R4730:Strn4 UTSW 7 16,562,719 (GRCm39) missense possibly damaging 0.59
R5590:Strn4 UTSW 7 16,567,799 (GRCm39) critical splice acceptor site probably null
R5924:Strn4 UTSW 7 16,572,246 (GRCm39) missense probably damaging 1.00
R6327:Strn4 UTSW 7 16,550,384 (GRCm39) missense probably benign 0.00
R6759:Strn4 UTSW 7 16,556,978 (GRCm39) missense probably damaging 1.00
R6866:Strn4 UTSW 7 16,562,710 (GRCm39) missense probably damaging 0.97
R6976:Strn4 UTSW 7 16,564,279 (GRCm39) missense probably benign 0.20
R7759:Strn4 UTSW 7 16,564,309 (GRCm39) missense probably damaging 1.00
R7779:Strn4 UTSW 7 16,565,417 (GRCm39) missense probably damaging 1.00
R7927:Strn4 UTSW 7 16,560,556 (GRCm39) missense probably null 1.00
R8174:Strn4 UTSW 7 16,562,733 (GRCm39) missense probably damaging 1.00
R8777:Strn4 UTSW 7 16,550,533 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Strn4 UTSW 7 16,550,533 (GRCm39) missense probably damaging 1.00
R8868:Strn4 UTSW 7 16,560,570 (GRCm39) missense probably benign 0.25
R9226:Strn4 UTSW 7 16,559,722 (GRCm39) intron probably benign
R9341:Strn4 UTSW 7 16,573,827 (GRCm39) missense probably damaging 0.99
R9343:Strn4 UTSW 7 16,573,827 (GRCm39) missense probably damaging 0.99
R9718:Strn4 UTSW 7 16,572,496 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06