Incidental Mutation 'R5354:Snap91'
ID 423982
Institutional Source Beutler Lab
Gene Symbol Snap91
Ensembl Gene ENSMUSG00000033419
Gene Name synaptosomal-associated protein 91
Synonyms F1-20, 91kDa, AP180
MMRRC Submission 042933-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R5354 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 86647976-86762707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86717177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 215 (V215I)
Ref Sequence ENSEMBL: ENSMUSP00000074095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036347] [ENSMUST00000074468] [ENSMUST00000074501] [ENSMUST00000098495] [ENSMUST00000191290]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036347
AA Change: V215I

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: V215I

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 benign
Transcript: ENSMUST00000074468
AA Change: V215I

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: V215I

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 possibly damaging
Transcript: ENSMUST00000074501
AA Change: V215I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: V215I

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 probably benign
Transcript: ENSMUST00000098495
AA Change: V215I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: V215I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167014
SMART Domains Protein: ENSMUSP00000128738
Gene: ENSMUSG00000033419

DomainStartEndE-ValueType
ENTH 20 145 8.41e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191290
AA Change: V215I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419
AA Change: V215I

DomainStartEndE-ValueType
ENTH 20 145 5.2e-50 SMART
Meta Mutation Damage Score 0.0805 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (80/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,535 (GRCm39) K196R probably benign Het
Ablim1 T C 19: 57,119,355 (GRCm39) E243G probably benign Het
Acat1 T A 9: 53,500,483 (GRCm39) E271V possibly damaging Het
Aco1 T C 4: 40,180,290 (GRCm39) probably null Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Agbl3 T A 6: 34,791,687 (GRCm39) H596Q probably benign Het
Anxa7 A G 14: 20,514,977 (GRCm39) L177P possibly damaging Het
Atp11a A T 8: 12,856,753 (GRCm39) N48I probably damaging Het
Bcas1 T A 2: 170,191,316 (GRCm39) N492I possibly damaging Het
Bclaf1 A G 10: 20,209,278 (GRCm39) Y498C probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Ccdc170 G A 10: 4,484,188 (GRCm39) C338Y probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Ckap2 A C 8: 22,667,581 (GRCm39) N93K probably damaging Het
Clca3a1 A T 3: 144,442,766 (GRCm39) S759R possibly damaging Het
Coro1c A T 5: 113,984,226 (GRCm39) I347N possibly damaging Het
Cpox A G 16: 58,491,205 (GRCm39) T139A probably damaging Het
Cyp4a12b C A 4: 115,290,661 (GRCm39) probably null Het
Dctn1 T G 6: 83,160,108 (GRCm39) V116G possibly damaging Het
Dhx38 A G 8: 110,282,378 (GRCm39) V683A probably damaging Het
Dnah12 G A 14: 26,496,299 (GRCm39) probably null Het
Dnajb7 T C 15: 81,292,208 (GRCm39) E43G probably damaging Het
Dsc1 A T 18: 20,220,632 (GRCm39) V714E probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Egfem1 T C 3: 29,136,361 (GRCm39) probably null Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmo1 T C 1: 162,657,714 (GRCm39) T476A probably benign Het
Gm10237 T C 16: 35,741,099 (GRCm39) noncoding transcript Het
Gm14496 A G 2: 181,642,602 (GRCm39) S758G probably damaging Het
Gpat2 T A 2: 127,270,643 (GRCm39) L97Q probably damaging Het
Gpr162 T C 6: 124,836,600 (GRCm39) D357G probably benign Het
Hax1 A T 3: 89,905,262 (GRCm39) D34E probably damaging Het
Hmgcr C T 13: 96,791,404 (GRCm39) V97M probably benign Het
Hsd3b2 T C 3: 98,619,631 (GRCm39) T105A probably benign Het
Ints1 A G 5: 139,752,183 (GRCm39) probably null Het
Islr T C 9: 58,064,895 (GRCm39) E204G probably damaging Het
Lrrc36 A G 8: 106,151,996 (GRCm39) N60D probably damaging Het
Maf1 T C 15: 76,237,330 (GRCm39) probably benign Het
Mrgprb4 T A 7: 47,848,077 (GRCm39) R284W probably benign Het
Myh4 A T 11: 67,146,551 (GRCm39) N1508I possibly damaging Het
Nufip2 A G 11: 77,577,103 (GRCm39) H17R unknown Het
Oasl1 A T 5: 115,075,055 (GRCm39) I372L probably damaging Het
Or5ae1 T A 7: 84,565,357 (GRCm39) Y123* probably null Het
Or6p1 T C 1: 174,258,252 (GRCm39) L86P probably damaging Het
Pald1 A T 10: 61,184,440 (GRCm39) Y226N probably damaging Het
Pcdhb13 G T 18: 37,577,844 (GRCm39) G741C probably damaging Het
Pcdhga10 A G 18: 37,881,259 (GRCm39) D340G probably damaging Het
Pclo C A 5: 14,728,822 (GRCm39) probably benign Het
Pcsk4 G T 10: 80,159,523 (GRCm39) N416K probably damaging Het
Pde10a C A 17: 9,180,812 (GRCm39) R398S probably damaging Het
Plin1 T A 7: 79,375,469 (GRCm39) T227S possibly damaging Het
Pnpt1 A G 11: 29,104,166 (GRCm39) D542G probably damaging Het
Ppp4r3b T A 11: 29,161,646 (GRCm39) D673E probably benign Het
Prr18 C A 17: 8,559,892 (GRCm39) P16Q probably damaging Het
Psmc3 T A 2: 90,889,698 (GRCm39) Y440N probably damaging Het
Rassf5 T C 1: 131,108,385 (GRCm39) I232V probably benign Het
Rims1 T A 1: 22,577,592 (GRCm39) D218V probably damaging Het
Skint10 T C 4: 112,568,790 (GRCm39) N309S possibly damaging Het
Slc6a1 T C 6: 114,279,584 (GRCm39) M121T possibly damaging Het
Slit3 A G 11: 35,566,740 (GRCm39) D1004G probably damaging Het
Son T C 16: 91,452,627 (GRCm39) L458S probably damaging Het
St18 C T 1: 6,914,395 (GRCm39) A782V probably damaging Het
Synpo A G 18: 60,735,303 (GRCm39) probably null Het
Thbs3 A G 3: 89,128,684 (GRCm39) D458G probably damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Trp63 A G 16: 25,503,105 (GRCm39) probably null Het
Vmn1r27 C A 6: 58,192,581 (GRCm39) R141L probably benign Het
Wnk1 T C 6: 119,945,484 (GRCm39) I699V probably benign Het
Xkr6 A G 14: 64,056,353 (GRCm39) D88G possibly damaging Het
Zan A G 5: 137,379,050 (GRCm39) probably benign Het
Zbtb7b T C 3: 89,286,913 (GRCm39) probably benign Het
Zfp618 A T 4: 62,998,265 (GRCm39) D33V probably damaging 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
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
R7690:Snap91 UTSW 9 86,707,031 (GRCm39) missense possibly damaging 0.95
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'- AGGAGTCCCTCACTATCATGAATC -3'
(R):5'- AGCCAGTCCTTTGGTATTGC -3'

Sequencing Primer
(F):5'- GTCCCTCACTATCATGAATCTCACAC -3'
(R):5'- GCTCGTTTTTCTAGGTGCA -3'
Posted On 2016-08-04