Incidental Mutation 'R4730:Strn4'
ID 358754
Institutional Source Beutler Lab
Gene Symbol Strn4
Ensembl Gene ENSMUSG00000030374
Gene Name striatin, calmodulin binding protein 4
Synonyms ZIN, zinedin
MMRRC Submission 041990-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # R4730 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16549814-16574856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16562719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 286 (Q286R)
Ref Sequence ENSEMBL: ENSMUSP00000104135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000108495] [ENSMUST00000185011]
AlphaFold P58404
Predicted Effect possibly damaging
Transcript: ENSMUST00000019220
AA Change: Q286R

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: Q286R

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: Q286R

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: Q286R

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 unknown
Transcript: ENSMUST00000184708
AA Change: Q135R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138070
Predicted Effect probably benign
Transcript: ENSMUST00000184280
Predicted Effect probably benign
Transcript: ENSMUST00000185011
SMART Domains Protein: ENSMUSP00000139290
Gene: ENSMUSG00000030374

DomainStartEndE-ValueType
low complexity region 33 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137885
Meta Mutation Damage Score 0.0712 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,990,939 (GRCm39) Q963R possibly damaging Het
Arhgef28 C T 13: 98,114,650 (GRCm39) E645K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Col4a2 A G 8: 11,487,590 (GRCm39) N964S probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Duox1 T G 2: 122,164,312 (GRCm39) L924R probably damaging Het
Edem2 T C 2: 155,547,618 (GRCm39) E398G possibly damaging Het
Engase A G 11: 118,373,748 (GRCm39) N297D probably damaging Het
Esp4 A C 17: 40,913,445 (GRCm39) Y104S unknown Het
Esp4 C A 17: 40,913,446 (GRCm39) Y104* probably null Het
Fat1 A T 8: 45,486,514 (GRCm39) N3356I probably damaging Het
Gm3867 T A 9: 36,168,550 (GRCm39) noncoding transcript Het
Gm6818 C T 7: 38,101,918 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,762,693 (GRCm39) *175W probably null Het
Gucy1b2 A G 14: 62,645,208 (GRCm39) V617A probably damaging Het
Gzmc C T 14: 56,469,089 (GRCm39) C210Y probably damaging Het
Hmg20a T A 9: 56,374,703 (GRCm39) S20T possibly damaging Het
Hs3st1 A T 5: 39,772,148 (GRCm39) L165* probably null Het
Ighv1-26 A G 12: 114,752,409 (GRCm39) I6T probably benign Het
Kcnk13 A G 12: 100,027,974 (GRCm39) K350E probably damaging Het
Lin9 T A 1: 180,493,416 (GRCm39) L198* probably null Het
Lrfn5 C T 12: 61,887,505 (GRCm39) A431V probably benign Het
Lta C T 17: 35,423,065 (GRCm39) R86Q probably benign Het
Map3k4 T A 17: 12,467,861 (GRCm39) I1058L probably damaging Het
Mtif2 T A 11: 29,490,834 (GRCm39) S513T probably benign Het
Muc4 C T 16: 32,570,032 (GRCm39) T364I possibly damaging Het
Nav1 C A 1: 135,535,049 (GRCm39) probably benign Het
Nfrkb T C 9: 31,321,547 (GRCm39) V748A probably benign Het
Obox6 A T 7: 15,568,738 (GRCm39) M46K possibly damaging Het
Or5g25 T C 2: 85,478,336 (GRCm39) T110A probably benign Het
Or5k1b T C 16: 58,581,105 (GRCm39) I145V probably benign Het
Or5t17 C T 2: 86,832,510 (GRCm39) R66W possibly damaging Het
Or6c33 G A 10: 129,853,416 (GRCm39) R62Q probably damaging Het
Or9g19 G T 2: 85,600,405 (GRCm39) E87* probably null Het
P4htm A G 9: 108,456,971 (GRCm39) V412A possibly damaging Het
Phb2 T C 6: 124,690,086 (GRCm39) S92P probably damaging Het
Phtf1 G T 3: 103,894,751 (GRCm39) R147L probably damaging Het
Pigk C T 3: 152,448,203 (GRCm39) Q189* probably null Het
Plxnc1 G A 10: 94,703,330 (GRCm39) probably benign Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Ptprg G A 14: 12,213,713 (GRCm38) G252D probably damaging Het
Rnf4 G T 5: 34,508,147 (GRCm39) V134F possibly damaging Het
Scarf2 A G 16: 17,620,877 (GRCm39) T182A probably damaging Het
Setd1a A G 7: 127,396,502 (GRCm39) probably benign Het
Sgpp1 A G 12: 75,781,713 (GRCm39) F209L probably benign Het
Sh3d19 T A 3: 86,024,171 (GRCm39) S567T possibly damaging Het
Slc4a2 C T 5: 24,639,878 (GRCm39) R520W probably damaging Het
Slf1 T C 13: 77,194,751 (GRCm39) Q858R probably damaging Het
Slitrk3 G T 3: 72,956,852 (GRCm39) A640E probably benign Het
Smarca2 A G 19: 26,608,073 (GRCm39) Y44C probably damaging Het
Spon1 A G 7: 113,632,306 (GRCm39) E543G possibly damaging Het
Suz12 T C 11: 79,892,988 (GRCm39) probably benign Het
Syna T A 5: 134,587,440 (GRCm39) E503V probably damaging Het
Syt14 C T 1: 192,613,094 (GRCm39) D569N probably damaging Het
Sytl2 A G 7: 90,030,457 (GRCm39) probably benign Het
Tmprss11g G T 5: 86,637,091 (GRCm39) S335* probably null Het
Tmprss11g A T 5: 86,637,092 (GRCm39) S335T probably damaging Het
Trim66 A G 7: 109,082,276 (GRCm39) S226P probably damaging Het
Tubgcp3 T C 8: 12,707,654 (GRCm39) T112A probably benign Het
Ulk4 T C 9: 121,092,791 (GRCm39) S149G probably benign Het
Usp53 T C 3: 122,756,582 (GRCm39) D108G probably null Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging 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
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
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'- TCTGGGTTCTGTCACCTGAAG -3'
(R):5'- CCCTTTTCAGGATATGGGAACAG -3'

Sequencing Primer
(F):5'- CTGTCACCTGAAGACTGAGTGTC -3'
(R):5'- ACAGAAAGCAAGAGTCACTGG -3'
Posted On 2015-11-11