Incidental Mutation 'R7690:Snap91'
ID 593344
Institutional Source Beutler Lab
Gene Symbol Snap91
Ensembl Gene ENSMUSG00000033419
Gene Name synaptosomal-associated protein 91
Synonyms F1-20, 91kDa, AP180
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 86647976-86762707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86707031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 253 (V253A)
Ref Sequence ENSEMBL: ENSMUSP00000096096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036347] [ENSMUST00000074468] [ENSMUST00000074501] [ENSMUST00000098495]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036347
AA Change: V253A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: V253A

DomainStartEndE-ValueType
ENTH 20 145 8.41e-48 SMART
low complexity region 334 347 N/A INTRINSIC
low complexity region 357 374 N/A INTRINSIC
low complexity region 403 433 N/A INTRINSIC
low complexity region 439 466 N/A INTRINSIC
low complexity region 477 488 N/A INTRINSIC
low complexity region 499 558 N/A INTRINSIC
internal_repeat_1 559 586 3.27e-5 PROSPERO
internal_repeat_1 584 611 3.27e-5 PROSPERO
low complexity region 616 634 N/A INTRINSIC
low complexity region 652 669 N/A INTRINSIC
low complexity region 699 716 N/A INTRINSIC
low complexity region 728 757 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
low complexity region 850 862 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000074468
AA Change: V253A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: V253A

DomainStartEndE-ValueType
ENTH 20 145 8.41e-48 SMART
low complexity region 334 347 N/A INTRINSIC
low complexity region 357 374 N/A INTRINSIC
low complexity region 403 433 N/A INTRINSIC
low complexity region 439 466 N/A INTRINSIC
low complexity region 477 488 N/A INTRINSIC
low complexity region 499 558 N/A INTRINSIC
internal_repeat_1 559 586 6.86e-5 PROSPERO
internal_repeat_1 584 611 6.86e-5 PROSPERO
low complexity region 616 634 N/A INTRINSIC
low complexity region 652 669 N/A INTRINSIC
low complexity region 702 717 N/A INTRINSIC
low complexity region 733 762 N/A INTRINSIC
low complexity region 833 847 N/A INTRINSIC
low complexity region 883 895 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074501
AA Change: V253A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: V253A

DomainStartEndE-ValueType
ENTH 20 145 8.41e-48 SMART
low complexity region 332 345 N/A INTRINSIC
low complexity region 355 382 N/A INTRINSIC
low complexity region 409 424 N/A INTRINSIC
low complexity region 440 469 N/A INTRINSIC
low complexity region 540 554 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098495
AA Change: V253A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: V253A

DomainStartEndE-ValueType
ENTH 20 145 8.41e-48 SMART
low complexity region 332 345 N/A INTRINSIC
low complexity region 355 372 N/A INTRINSIC
low complexity region 396 426 N/A INTRINSIC
low complexity region 432 459 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
low complexity region 492 551 N/A INTRINSIC
internal_repeat_1 552 579 4.67e-5 PROSPERO
internal_repeat_1 577 604 4.67e-5 PROSPERO
low complexity region 609 627 N/A INTRINSIC
low complexity region 667 682 N/A INTRINSIC
low complexity region 698 727 N/A INTRINSIC
low complexity region 772 784 N/A INTRINSIC
low complexity region 820 832 N/A INTRINSIC
Meta Mutation Damage Score 0.6685 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display postnatal growth retardation, limb clasping, altered behavior, defects in synaptic vesicle reformation, impaired neurotransmission, excitatory/inhibitory imbalance, epileptic seizures, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null Het
Other mutations in Snap91
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Snap91 APN 9 86,703,790 (GRCm39) missense probably benign 0.01
IGL01147:Snap91 APN 9 86,680,611 (GRCm39) missense probably benign 0.37
IGL01358:Snap91 APN 9 86,688,613 (GRCm39) missense probably damaging 1.00
IGL01501:Snap91 APN 9 86,720,178 (GRCm39) missense probably damaging 0.99
IGL01883:Snap91 APN 9 86,657,665 (GRCm39) missense probably damaging 1.00
IGL02632:Snap91 APN 9 86,721,575 (GRCm39) missense possibly damaging 0.94
IGL02864:Snap91 APN 9 86,720,141 (GRCm39) missense possibly damaging 0.95
IGL03276:Snap91 APN 9 86,707,065 (GRCm39) missense possibly damaging 0.78
PIT4514001:Snap91 UTSW 9 86,761,486 (GRCm39) missense possibly damaging 0.86
R1564:Snap91 UTSW 9 86,674,249 (GRCm39) missense possibly damaging 0.85
R1804:Snap91 UTSW 9 86,665,470 (GRCm39) missense probably benign 0.01
R1840:Snap91 UTSW 9 86,697,518 (GRCm39) missense probably damaging 1.00
R1869:Snap91 UTSW 9 86,672,194 (GRCm39) critical splice acceptor site probably null
R2156:Snap91 UTSW 9 86,707,130 (GRCm39) missense probably damaging 1.00
R2221:Snap91 UTSW 9 86,674,580 (GRCm39) missense possibly damaging 0.53
R2223:Snap91 UTSW 9 86,674,580 (GRCm39) missense possibly damaging 0.53
R2233:Snap91 UTSW 9 86,680,624 (GRCm39) missense probably benign 0.23
R2680:Snap91 UTSW 9 86,761,603 (GRCm39) start codon destroyed probably null 1.00
R3077:Snap91 UTSW 9 86,720,907 (GRCm39) missense possibly damaging 0.95
R3702:Snap91 UTSW 9 86,688,573 (GRCm39) missense probably damaging 0.99
R3840:Snap91 UTSW 9 86,721,618 (GRCm39) missense probably damaging 1.00
R3912:Snap91 UTSW 9 86,674,610 (GRCm39) missense possibly damaging 0.53
R3913:Snap91 UTSW 9 86,674,610 (GRCm39) missense possibly damaging 0.53
R3958:Snap91 UTSW 9 86,720,183 (GRCm39) missense probably damaging 1.00
R3963:Snap91 UTSW 9 86,657,665 (GRCm39) missense probably damaging 1.00
R4043:Snap91 UTSW 9 86,659,102 (GRCm39) missense probably damaging 1.00
R4133:Snap91 UTSW 9 86,659,102 (GRCm39) missense probably damaging 1.00
R4641:Snap91 UTSW 9 86,761,528 (GRCm39) missense probably damaging 1.00
R4674:Snap91 UTSW 9 86,674,070 (GRCm39) missense possibly damaging 0.73
R4770:Snap91 UTSW 9 86,655,654 (GRCm39) missense possibly damaging 0.86
R4798:Snap91 UTSW 9 86,665,507 (GRCm39) intron probably benign
R4849:Snap91 UTSW 9 86,674,613 (GRCm39) missense possibly damaging 0.53
R4991:Snap91 UTSW 9 86,672,207 (GRCm39) splice site probably null
R5200:Snap91 UTSW 9 86,697,497 (GRCm39) missense probably damaging 1.00
R5354:Snap91 UTSW 9 86,717,177 (GRCm39) missense possibly damaging 0.84
R5644:Snap91 UTSW 9 86,672,206 (GRCm39) splice site probably null
R6029:Snap91 UTSW 9 86,707,133 (GRCm39) splice site probably null
R6091:Snap91 UTSW 9 86,721,681 (GRCm39) missense probably damaging 1.00
R6175:Snap91 UTSW 9 86,707,053 (GRCm39) missense probably damaging 1.00
R6191:Snap91 UTSW 9 86,720,105 (GRCm39) missense probably damaging 1.00
R6611:Snap91 UTSW 9 86,672,180 (GRCm39) missense probably benign 0.33
R6764:Snap91 UTSW 9 86,674,234 (GRCm39) missense probably benign 0.33
R6881:Snap91 UTSW 9 86,655,646 (GRCm39) missense possibly damaging 0.73
R7201:Snap91 UTSW 9 86,672,199 (GRCm39) splice site probably null
R7223:Snap91 UTSW 9 86,761,610 (GRCm39) start gained probably benign
R7247:Snap91 UTSW 9 86,674,669 (GRCm39) missense unknown
R7327:Snap91 UTSW 9 86,655,598 (GRCm39) missense unknown
R7520:Snap91 UTSW 9 86,721,702 (GRCm39) missense probably damaging 1.00
R7572:Snap91 UTSW 9 86,688,547 (GRCm39) missense possibly damaging 0.58
R7616:Snap91 UTSW 9 86,721,674 (GRCm39) missense probably damaging 1.00
R7750:Snap91 UTSW 9 86,680,762 (GRCm39) splice site probably null
R8747:Snap91 UTSW 9 86,686,577 (GRCm39) missense probably damaging 0.99
R8918:Snap91 UTSW 9 86,651,611 (GRCm39) missense unknown
R9171:Snap91 UTSW 9 86,680,672 (GRCm39) missense probably benign 0.03
R9512:Snap91 UTSW 9 86,665,392 (GRCm39) missense unknown
R9764:Snap91 UTSW 9 86,707,094 (GRCm39) missense possibly damaging 0.60
X0027:Snap91 UTSW 9 86,680,881 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGACCAACTTGTGAAGAGCAG -3'
(R):5'- CCCTATGCTTGAAGGAGTGG -3'

Sequencing Primer
(F):5'- CTACTTGAGCTCATCTGACAGGGAG -3'
(R):5'- CCTATGCTTGAAGGAGTGGTTATAAC -3'
Posted On 2019-11-12