Incidental Mutation 'R6191:Snap91'
ID 502568
Institutional Source Beutler Lab
Gene Symbol Snap91
Ensembl Gene ENSMUSG00000033419
Gene Name synaptosomal-associated protein 91
Synonyms F1-20, 91kDa, AP180
MMRRC Submission 044331-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R6191 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 86647976-86762707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86720105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 144 (D144G)
Ref Sequence ENSEMBL: ENSMUSP00000141065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036347] [ENSMUST00000074468] [ENSMUST00000074501] [ENSMUST00000098495] [ENSMUST00000191290]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036347
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: D144G

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: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: D144G

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 damaging
Transcript: ENSMUST00000074501
AA Change: D144G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: D144G

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 damaging
Transcript: ENSMUST00000098495
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: D144G

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 damaging
Transcript: ENSMUST00000191290
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419
AA Change: D144G

DomainStartEndE-ValueType
ENTH 20 145 5.2e-50 SMART
Meta Mutation Damage Score 0.8939 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A C 9: 55,909,807 (GRCm39) D144E possibly damaging Het
Amigo2 T A 15: 97,143,419 (GRCm39) K334N probably benign Het
Ano6 T C 15: 95,846,380 (GRCm39) probably null Het
Ap1m2 C A 9: 21,210,601 (GRCm39) V343F probably benign Het
Apol6 T C 15: 76,940,098 (GRCm39) V307A probably benign Het
Arsi C A 18: 61,045,544 (GRCm39) A78E probably damaging Het
B2m A T 2: 121,981,396 (GRCm39) N37I possibly damaging Het
Bltp3b G T 10: 89,641,180 (GRCm39) G784C possibly damaging Het
C8a T C 4: 104,703,100 (GRCm39) K363R probably benign Het
Ccdc117 C A 11: 5,484,242 (GRCm39) probably null Het
Ccdc154 C A 17: 25,386,945 (GRCm39) Q325K probably damaging Het
Cd300e A T 11: 114,945,359 (GRCm39) V145E possibly damaging Het
Col19a1 G T 1: 24,356,474 (GRCm39) P673Q probably damaging Het
Csn2 A G 5: 87,843,885 (GRCm39) probably null Het
Ctnna1 T C 18: 35,307,408 (GRCm39) V135A probably damaging Het
Dnah11 T A 12: 118,154,632 (GRCm39) D216V probably benign Het
Dnah12 A G 14: 26,431,412 (GRCm39) H410R probably benign Het
Dock2 C T 11: 34,181,652 (GRCm39) R1637H possibly damaging Het
Dspp A G 5: 104,325,214 (GRCm39) N526D unknown Het
Frem2 T C 3: 53,562,701 (GRCm39) H602R probably benign Het
Galc A T 12: 98,218,293 (GRCm39) H186Q probably damaging Het
Grina T C 15: 76,133,218 (GRCm39) V262A probably damaging Het
Gse1 G A 8: 121,280,542 (GRCm39) probably null Het
H2-Oa C A 17: 34,312,842 (GRCm39) Q40K probably damaging Het
Hfm1 C A 5: 107,034,419 (GRCm39) D763Y possibly damaging Het
Hmcn2 T A 2: 31,348,758 (GRCm39) Y4925N probably damaging Het
Hs3st3b1 C A 11: 63,780,029 (GRCm39) R366L probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Iqank1 T C 15: 75,918,218 (GRCm39) probably null Het
Itpr2 A G 6: 146,229,833 (GRCm39) V1221A probably benign Het
Kdm6b T C 11: 69,297,584 (GRCm39) N285S probably benign Het
Klk1b1 T A 7: 43,620,081 (GRCm39) N181K probably damaging Het
Kmt2a C A 9: 44,738,125 (GRCm39) probably benign Het
Lama5 T C 2: 179,827,752 (GRCm39) D2170G probably damaging Het
Lama5 T A 2: 179,822,404 (GRCm39) T2890S probably damaging Het
Lsm2 T A 17: 35,201,131 (GRCm39) probably benign Het
Map3k5 G T 10: 19,899,415 (GRCm39) C232F probably damaging Het
Mapk9 T G 11: 49,754,383 (GRCm39) D45E probably damaging Het
Mpnd T C 17: 56,319,482 (GRCm39) V315A possibly damaging Het
Msh2 A G 17: 88,030,900 (GRCm39) I926V probably benign Het
Mtcl1 C T 17: 66,650,521 (GRCm39) R1345H probably damaging Het
Nbeal2 A G 9: 110,457,058 (GRCm39) probably null Het
Neo1 T C 9: 58,796,312 (GRCm39) D1205G probably damaging Het
Nhlrc2 A G 19: 56,559,291 (GRCm39) S259G probably benign Het
Nkain4 G A 2: 180,577,796 (GRCm39) P186L probably damaging Het
Nkain4 G A 2: 180,577,797 (GRCm39) P186S probably damaging Het
Nlrp1b T A 11: 71,109,283 (GRCm39) R73* probably null Het
Nr5a2 T C 1: 136,818,536 (GRCm39) D330G probably damaging Het
Nup54 A G 5: 92,572,153 (GRCm39) L299P probably damaging Het
Or2v1 T C 11: 49,025,877 (GRCm39) L286P probably damaging Het
Or5aq7 A G 2: 86,938,296 (GRCm39) V145A probably damaging Het
Pcdhb8 T A 18: 37,489,279 (GRCm39) V319E probably benign Het
Pcsk6 T A 7: 65,578,875 (GRCm39) D129E probably benign Het
Pld5 G A 1: 175,798,100 (GRCm39) T433I probably benign Het
Plin1 A T 7: 79,371,347 (GRCm39) L459H probably benign Het
Psd4 T C 2: 24,284,499 (GRCm39) V121A probably damaging Het
Pxdn A T 12: 30,032,716 (GRCm39) I167F possibly damaging Het
R3hdm2 T C 10: 127,320,384 (GRCm39) S569P probably damaging Het
Rfng T A 11: 120,673,516 (GRCm39) T202S probably damaging Het
Robo1 T C 16: 72,730,696 (GRCm39) S266P probably benign Het
Sema3c G T 5: 17,858,804 (GRCm39) V68L probably damaging Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Slfn8 A G 11: 82,907,626 (GRCm39) Y306H possibly damaging Het
St7l T G 3: 104,775,349 (GRCm39) F75C probably damaging Het
Stard10 A G 7: 100,992,468 (GRCm39) I145V probably damaging Het
Tekt3 C T 11: 62,968,999 (GRCm39) A242V probably damaging Het
Tex44 A G 1: 86,354,306 (GRCm39) probably benign Het
Thg1l T C 11: 45,844,988 (GRCm39) Q88R probably benign Het
Trav8n-2 T A 14: 53,583,744 (GRCm39) I67N probably damaging Het
Ttn G A 2: 76,677,770 (GRCm39) probably benign Het
Ube4a A T 9: 44,861,051 (GRCm39) L253* probably null Het
Uggt1 A T 1: 36,201,289 (GRCm39) N1150K probably damaging Het
Ush2a T A 1: 187,995,298 (GRCm39) L23* probably null Het
Usp22 T A 11: 61,065,602 (GRCm39) N37I probably benign Het
Usp53 T A 3: 122,743,390 (GRCm39) K515N probably damaging Het
Vmn2r4 T C 3: 64,322,702 (GRCm39) K6E probably benign Het
Vps13d C T 4: 144,875,918 (GRCm39) V1530M probably damaging Het
Vwa3b A G 1: 37,153,612 (GRCm39) I485V possibly damaging Het
Wnk4 T C 11: 101,155,156 (GRCm39) Y356H probably damaging Het
Zcchc2 A G 1: 105,917,900 (GRCm39) probably benign Het
Zfp345 A C 2: 150,315,010 (GRCm39) Y176D probably benign Het
Zfp598 T C 17: 24,896,850 (GRCm39) F238S possibly damaging Het
Zkscan17 T C 11: 59,393,820 (GRCm39) D10G probably damaging Het
Zmat4 T G 8: 24,392,083 (GRCm39) M13R 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
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'- TGTCTCACTGACTTCCTAAGAGG -3'
(R):5'- GCTTGCTGCAACATGTTGAAC -3'

Sequencing Primer
(F):5'- GACTTCCTAAGAGGTTTCTCCAGG -3'
(R):5'- GAACTTCTTAGAGGCTACCGTGAC -3'
Posted On 2018-02-27