Incidental Mutation 'R3435:Strn4'
ID 267160
Institutional Source Beutler Lab
Gene Symbol Strn4
Ensembl Gene ENSMUSG00000030374
Gene Name striatin, calmodulin binding protein 4
Synonyms ZIN, zinedin
MMRRC Submission 040653-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # R3435 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16549814-16574856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16571558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 563 (S563P)
Ref Sequence ENSEMBL: ENSMUSP00000019220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000108495] [ENSMUST00000185011]
AlphaFold P58404
Predicted Effect possibly damaging
Transcript: ENSMUST00000019220
AA Change: S563P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: S563P

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 possibly damaging
Transcript: ENSMUST00000108495
AA Change: S556P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: S556P

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: ENSMUST00000123510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183680
Predicted Effect probably benign
Transcript: ENSMUST00000184694
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: ENSMUST00000184708
Meta Mutation Damage Score 0.1475 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,432,189 (GRCm39) D91A unknown Het
Abca9 T C 11: 110,045,256 (GRCm39) E359G probably benign Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Dnah1 T C 14: 31,038,631 (GRCm39) D150G probably damaging Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Gm19965 C A 1: 116,749,353 (GRCm39) H345N possibly damaging Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Iqgap3 A G 3: 88,001,911 (GRCm39) I384V probably benign Het
Lrrc57 T A 2: 120,439,862 (GRCm39) probably benign Het
Mafk C T 5: 139,786,062 (GRCm39) Q87* probably null Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Neurl1a T C 19: 47,245,964 (GRCm39) V532A probably damaging Het
Nod2 A G 8: 89,390,637 (GRCm39) R293G possibly damaging Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or1j1 T A 2: 36,702,690 (GRCm39) Q138L probably benign Het
Osbpl3 A T 6: 50,325,050 (GRCm39) N149K possibly damaging Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Pbxip1 T C 3: 89,354,543 (GRCm39) L354P probably damaging Het
Pld1 A T 3: 28,178,772 (GRCm39) M889L probably benign Het
Ppp2r2b T A 18: 42,874,174 (GRCm39) Q52L possibly damaging Het
Prob1 T C 18: 35,787,294 (GRCm39) E320G possibly damaging Het
Stard13 A T 5: 150,965,644 (GRCm39) L937Q probably damaging Het
Syne1 T C 10: 5,298,565 (GRCm39) D1114G probably damaging Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Tmx3 T A 18: 90,546,028 (GRCm39) V203E probably damaging Het
Ttn T C 2: 76,709,062 (GRCm39) probably benign Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Other mutations in Strn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Strn4 APN 7 16,564,377 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTAGAGTCAGAGGAGCTTGTG -3'
(R):5'- CCATGTTCTGAGAGTACAGGG -3'

Sequencing Primer
(F):5'- TCAGAGGAGCTTGTGGGCAG -3'
(R):5'- AAGGCTACTCAGAGCGCTG -3'
Posted On 2015-02-18