Incidental Mutation 'R7750:Snap91'
ID 628512
Institutional Source Beutler Lab
Gene Symbol Snap91
Ensembl Gene ENSMUSG00000033419
Gene Name synaptosomal-associated protein 91
Synonyms F1-20, 91kDa, AP180
MMRRC Submission 045806-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R7750 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 86647976-86762707 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 86680762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036347] [ENSMUST00000036347] [ENSMUST00000074468] [ENSMUST00000074468] [ENSMUST00000074501] [ENSMUST00000098495] [ENSMUST00000098495]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000036347
SMART Domains Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419

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 null
Transcript: ENSMUST00000036347
SMART Domains Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419

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 null
Transcript: ENSMUST00000074468
SMART Domains Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419

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 null
Transcript: ENSMUST00000074468
SMART Domains Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419

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
SMART Domains Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419

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 null
Transcript: ENSMUST00000098495
SMART Domains Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419

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 probably null
Transcript: ENSMUST00000098495
SMART Domains Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419

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 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (56/56)
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
Aass T A 6: 23,075,199 (GRCm39) D816V possibly damaging Het
Abca16 A T 7: 120,113,928 (GRCm39) N933I probably benign Het
Acly A T 11: 100,368,839 (GRCm39) probably null Het
Acox1 C T 11: 116,074,406 (GRCm39) G105D possibly damaging Het
Ankrd24 A G 10: 81,482,628 (GRCm39) E939G possibly damaging Het
Bard1 T A 1: 71,106,101 (GRCm39) probably null Het
Brd4 G T 17: 32,432,521 (GRCm39) N579K unknown Het
C1qc T C 4: 136,617,592 (GRCm39) Y168C probably damaging Het
Casp6 A G 3: 129,705,858 (GRCm39) D175G probably damaging Het
Ccdc83 A T 7: 89,873,190 (GRCm39) Y388* probably null Het
Clasrp A T 7: 19,318,516 (GRCm39) *628R probably null Het
Cox4i1 A G 8: 121,400,049 (GRCm39) I111V probably benign Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Epb41l4b C T 4: 57,076,913 (GRCm39) probably null Het
Frem2 C A 3: 53,431,103 (GRCm39) L2743F possibly damaging Het
Frmd4a A T 2: 4,606,160 (GRCm39) H628L probably benign Het
Fyb1 A G 15: 6,690,184 (GRCm39) D809G probably damaging Het
Gm19410 T A 8: 36,274,652 (GRCm39) M1491K possibly damaging Het
Gm3604 G A 13: 62,517,810 (GRCm39) H183Y possibly damaging Het
H1f7 A G 15: 98,154,565 (GRCm39) S195P unknown Het
Lama2 T C 10: 26,866,920 (GRCm39) Y2858C probably damaging Het
Methig1 T C 15: 100,251,412 (GRCm39) F108L probably benign Het
Mfsd4b5 A G 10: 39,846,251 (GRCm39) V443A probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myh9 C T 15: 77,667,610 (GRCm39) V608I probably benign Het
Myo1g T C 11: 6,464,849 (GRCm39) D475G probably damaging Het
Neb A C 2: 52,170,728 (GRCm39) probably null Het
Nlrp1b T A 11: 71,059,665 (GRCm39) I769F probably benign Het
Nol8 G T 13: 49,815,742 (GRCm39) V617F possibly damaging Het
Or2d2b A T 7: 106,705,740 (GRCm39) C109* probably null Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pou3f3 T A 1: 42,737,308 (GRCm39) F335I probably damaging Het
Ppp1r3e T C 14: 55,114,084 (GRCm39) D196G probably damaging Het
Prpf40a T C 2: 53,041,757 (GRCm39) T545A probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rprd1a T A 18: 24,641,311 (GRCm39) K102* probably null Het
Sim1 A G 10: 50,772,131 (GRCm39) T47A possibly damaging Het
Slc45a1 C T 4: 150,728,498 (GRCm39) A102T probably damaging Het
Slc6a11 C T 6: 114,207,098 (GRCm39) P361S possibly damaging Het
Slc9b2 T C 3: 135,031,998 (GRCm39) F286S probably damaging Het
Slco4a1 T C 2: 180,113,030 (GRCm39) S421P probably benign Het
Sppl2a A G 2: 126,761,625 (GRCm39) L293P probably damaging Het
Sval3 T A 6: 41,949,360 (GRCm39) I66K possibly damaging Het
Synj2bp T C 12: 81,551,311 (GRCm39) I85V probably benign Het
Thop1 G T 10: 80,916,025 (GRCm39) A403S probably benign Het
Timd4 T A 11: 46,706,354 (GRCm39) M52K probably damaging Het
Tmco5b A G 2: 113,118,609 (GRCm39) N111D probably damaging Het
Trip10 G A 17: 57,568,667 (GRCm39) V419I possibly damaging Het
Trpv3 T C 11: 73,176,847 (GRCm39) Y409H probably damaging Het
Tulp4 A G 17: 6,283,399 (GRCm39) T1143A probably damaging Het
Ugt2b5 A T 5: 87,288,108 (GRCm39) S20T probably benign Het
Unc5b A G 10: 60,610,823 (GRCm39) F406L probably benign Het
Usf3 A G 16: 44,040,884 (GRCm39) E1788G probably benign Het
Usp45 A G 4: 21,780,430 (GRCm39) D27G probably damaging Het
Vmn2r100 G A 17: 19,742,726 (GRCm39) V367I probably benign Het
Vmn2r49 T A 7: 9,710,185 (GRCm39) K849I probably damaging Het
Zfp119b A T 17: 56,245,682 (GRCm39) H501Q probably damaging Het
Zfp462 C A 4: 55,016,958 (GRCm39) H893N probably benign Het
Zkscan4 A G 13: 21,663,525 (GRCm39) E88G 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
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
R7690:Snap91 UTSW 9 86,707,031 (GRCm39) missense possibly damaging 0.95
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'- CACGTCAGCCATCTTGAAAGG -3'
(R):5'- GTTTCAGCTGGAACTCTTTGTC -3'

Sequencing Primer
(F):5'- TGGTGTGACTGACTAACCTCCAAAG -3'
(R):5'- GCTGGAACTCTTTGTCTCTTCATATG -3'
Posted On 2020-04-27