Incidental Mutation 'IGL02739:Bsn'
ID 305809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bsn
Ensembl Gene ENSMUSG00000032589
Gene Name bassoon
Synonyms presynaptic cytomatrix protein
Accession Numbers

Genbank: NM_007567; MGI: 1277955

Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # IGL02739
Quality Score
Status
Chromosome 9
Chromosomal Location 108096022-108190384 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108112546 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 2002 (H2002Q)
Ref Sequence ENSEMBL: ENSMUSP00000035208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035208]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035208
AA Change: H2002Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589
AA Change: H2002Q

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
low complexity region 42 77 N/A INTRINSIC
Pfam:zf-piccolo 165 223 6.1e-30 PFAM
low complexity region 394 409 N/A INTRINSIC
low complexity region 445 454 N/A INTRINSIC
Pfam:zf-piccolo 462 520 5.2e-31 PFAM
low complexity region 527 540 N/A INTRINSIC
low complexity region 627 643 N/A INTRINSIC
low complexity region 664 681 N/A INTRINSIC
low complexity region 694 708 N/A INTRINSIC
low complexity region 788 803 N/A INTRINSIC
low complexity region 994 1021 N/A INTRINSIC
coiled coil region 1047 1101 N/A INTRINSIC
low complexity region 1131 1145 N/A INTRINSIC
low complexity region 1173 1190 N/A INTRINSIC
low complexity region 1209 1220 N/A INTRINSIC
low complexity region 1333 1343 N/A INTRINSIC
low complexity region 1443 1455 N/A INTRINSIC
low complexity region 1481 1498 N/A INTRINSIC
low complexity region 1790 1800 N/A INTRINSIC
low complexity region 2117 2126 N/A INTRINSIC
low complexity region 2287 2303 N/A INTRINSIC
low complexity region 2326 2356 N/A INTRINSIC
SCOP:d1eq1a_ 2362 2477 2e-7 SMART
low complexity region 2607 2614 N/A INTRINSIC
low complexity region 2635 2651 N/A INTRINSIC
low complexity region 2655 2672 N/A INTRINSIC
coiled coil region 2949 2990 N/A INTRINSIC
low complexity region 3057 3071 N/A INTRINSIC
low complexity region 3089 3114 N/A INTRINSIC
low complexity region 3446 3461 N/A INTRINSIC
low complexity region 3520 3534 N/A INTRINSIC
low complexity region 3653 3666 N/A INTRINSIC
low complexity region 3750 3820 N/A INTRINSIC
low complexity region 3831 3852 N/A INTRINSIC
low complexity region 3856 3901 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124763
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, other(1) Gene trapped(8)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 (GRCm38) C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 (GRCm38) E352* probably null Het
Bglap2 A T 3: 88,378,012 (GRCm38) probably null Het
Chtop T A 3: 90,502,250 (GRCm38) Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 (GRCm38) probably null Het
Ctsr T C 13: 61,161,844 (GRCm38) T184A probably benign Het
Defb36 T C 2: 152,604,519 (GRCm38) L11P unknown Het
Dock8 A G 19: 25,188,488 (GRCm38) E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 (GRCm38) Y106H probably damaging Het
Epas1 A G 17: 86,805,282 (GRCm38) T103A probably damaging Het
Epcam A T 17: 87,640,494 (GRCm38) T131S probably benign Het
Fam169a A G 13: 97,094,055 (GRCm38) probably benign Het
Gh T A 11: 106,301,733 (GRCm38) probably benign Het
Kif20a A T 18: 34,628,943 (GRCm38) K399* probably null Het
Lrp1b A G 2: 41,498,215 (GRCm38) I466T probably damaging Het
Nlk A G 11: 78,574,851 (GRCm38) V409A probably benign Het
Nomo1 A G 7: 46,044,307 (GRCm38) probably null Het
Nr2c1 T A 10: 94,156,972 (GRCm38) M16K probably damaging Het
Nxph2 A T 2: 23,399,900 (GRCm38) Q88L probably benign Het
Olfr33 A G 7: 102,714,314 (GRCm38) I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 (GRCm38) R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 (GRCm38) N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 (GRCm38) probably null Het
Ppp1r42 T A 1: 9,968,853 (GRCm38) K347N probably benign Het
Prtg T C 9: 72,851,585 (GRCm38) V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 (GRCm38) S194* probably null Het
Rnf214 T C 9: 45,869,474 (GRCm38) I406V probably benign Het
Rreb1 C T 13: 37,893,821 (GRCm38) S3L probably damaging Het
Sdad1 C T 5: 92,290,072 (GRCm38) A539T probably benign Het
Sema3a A G 5: 13,451,161 (GRCm38) Y57C probably damaging Het
Susd5 A G 9: 114,096,033 (GRCm38) E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 (GRCm38) T175A probably damaging Het
Tcf20 T A 15: 82,856,080 (GRCm38) Q390L probably damaging Het
Tex15 A G 8: 33,581,693 (GRCm38) T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 (GRCm38) N36S probably benign Het
Uchl4 C T 9: 64,235,537 (GRCm38) T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 (GRCm38) K11R probably benign Het
Vps13b T A 15: 35,879,900 (GRCm38) D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 (GRCm38) Y640* probably null Het
Zkscan17 T G 11: 59,503,526 (GRCm38) E83A probably damaging Het
Other mutations in Bsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Bsn APN 9 108,115,110 (GRCm38) missense probably benign 0.01
IGL00330:Bsn APN 9 108,115,340 (GRCm38) missense probably damaging 1.00
IGL00863:Bsn APN 9 108,115,322 (GRCm38) missense probably damaging 1.00
IGL01123:Bsn APN 9 108,115,986 (GRCm38) missense probably damaging 1.00
IGL01330:Bsn APN 9 108,110,913 (GRCm38) unclassified probably benign
IGL01336:Bsn APN 9 108,111,785 (GRCm38) missense probably damaging 0.99
IGL01399:Bsn APN 9 108,107,187 (GRCm38) missense unknown
IGL01683:Bsn APN 9 108,114,896 (GRCm38) missense possibly damaging 0.71
IGL02022:Bsn APN 9 108,110,418 (GRCm38) unclassified probably benign
IGL02396:Bsn APN 9 108,116,046 (GRCm38) missense possibly damaging 0.90
IGL02538:Bsn APN 9 108,105,236 (GRCm38) missense unknown
IGL02565:Bsn APN 9 108,113,288 (GRCm38) missense probably damaging 0.99
IGL02661:Bsn APN 9 108,106,936 (GRCm38) nonsense probably null
IGL02951:Bsn APN 9 108,115,613 (GRCm38) missense probably damaging 1.00
IGL02987:Bsn APN 9 108,126,304 (GRCm38) missense probably benign 0.03
IGL03033:Bsn APN 9 108,115,993 (GRCm38) missense probably damaging 1.00
IGL03069:Bsn APN 9 108,114,263 (GRCm38) missense probably damaging 1.00
IGL03076:Bsn APN 9 108,105,382 (GRCm38) missense unknown
R0068:Bsn UTSW 9 108,112,137 (GRCm38) missense probably damaging 1.00
R0068:Bsn UTSW 9 108,112,137 (GRCm38) missense probably damaging 1.00
R0167:Bsn UTSW 9 108,125,986 (GRCm38) missense probably benign 0.01
R0234:Bsn UTSW 9 108,116,396 (GRCm38) missense possibly damaging 0.50
R0234:Bsn UTSW 9 108,116,396 (GRCm38) missense possibly damaging 0.50
R0359:Bsn UTSW 9 108,111,846 (GRCm38) missense possibly damaging 0.81
R0514:Bsn UTSW 9 108,125,782 (GRCm38) missense probably benign 0.07
R0593:Bsn UTSW 9 108,110,306 (GRCm38) missense unknown
R0617:Bsn UTSW 9 108,107,240 (GRCm38) missense unknown
R0636:Bsn UTSW 9 108,107,834 (GRCm38) missense unknown
R0652:Bsn UTSW 9 108,105,742 (GRCm38) missense unknown
R0718:Bsn UTSW 9 108,111,360 (GRCm38) unclassified probably benign
R0730:Bsn UTSW 9 108,106,812 (GRCm38) missense unknown
R0905:Bsn UTSW 9 108,105,635 (GRCm38) missense unknown
R0963:Bsn UTSW 9 108,111,807 (GRCm38) missense possibly damaging 0.81
R0992:Bsn UTSW 9 108,114,354 (GRCm38) nonsense probably null
R1101:Bsn UTSW 9 108,116,411 (GRCm38) missense probably damaging 1.00
R1393:Bsn UTSW 9 108,110,517 (GRCm38) unclassified probably benign
R1490:Bsn UTSW 9 108,113,994 (GRCm38) missense probably benign 0.03
R1566:Bsn UTSW 9 108,125,985 (GRCm38) missense probably benign 0.35
R1582:Bsn UTSW 9 108,105,092 (GRCm38) missense unknown
R1738:Bsn UTSW 9 108,106,934 (GRCm38) missense unknown
R1867:Bsn UTSW 9 108,106,719 (GRCm38) missense unknown
R1918:Bsn UTSW 9 108,107,573 (GRCm38) missense unknown
R1933:Bsn UTSW 9 108,116,444 (GRCm38) missense possibly damaging 0.91
R1946:Bsn UTSW 9 108,114,651 (GRCm38) missense probably damaging 0.99
R1978:Bsn UTSW 9 108,114,549 (GRCm38) missense probably benign 0.35
R2068:Bsn UTSW 9 108,126,550 (GRCm38) missense possibly damaging 0.95
R2068:Bsn UTSW 9 108,110,684 (GRCm38) unclassified probably benign
R2113:Bsn UTSW 9 108,114,886 (GRCm38) missense probably benign 0.14
R2136:Bsn UTSW 9 108,113,231 (GRCm38) missense probably damaging 1.00
R2172:Bsn UTSW 9 108,109,992 (GRCm38) intron probably benign
R2266:Bsn UTSW 9 108,115,124 (GRCm38) missense probably damaging 1.00
R2293:Bsn UTSW 9 108,113,067 (GRCm38) missense possibly damaging 0.47
R2294:Bsn UTSW 9 108,113,067 (GRCm38) missense possibly damaging 0.47
R2368:Bsn UTSW 9 108,111,030 (GRCm38) nonsense probably null
R2442:Bsn UTSW 9 108,106,920 (GRCm38) missense unknown
R2507:Bsn UTSW 9 108,116,114 (GRCm38) missense probably damaging 1.00
R2880:Bsn UTSW 9 108,113,067 (GRCm38) missense possibly damaging 0.47
R2881:Bsn UTSW 9 108,113,067 (GRCm38) missense possibly damaging 0.47
R2922:Bsn UTSW 9 108,115,469 (GRCm38) missense probably damaging 1.00
R2922:Bsn UTSW 9 108,108,186 (GRCm38) missense unknown
R3618:Bsn UTSW 9 108,117,561 (GRCm38) critical splice acceptor site probably null
R3742:Bsn UTSW 9 108,105,739 (GRCm38) missense unknown
R3825:Bsn UTSW 9 108,106,856 (GRCm38) missense unknown
R3982:Bsn UTSW 9 108,107,166 (GRCm38) missense unknown
R4094:Bsn UTSW 9 108,113,870 (GRCm38) missense probably damaging 1.00
R4158:Bsn UTSW 9 108,112,946 (GRCm38) missense possibly damaging 0.95
R4225:Bsn UTSW 9 108,106,733 (GRCm38) missense unknown
R4261:Bsn UTSW 9 108,110,684 (GRCm38) unclassified probably benign
R4482:Bsn UTSW 9 108,114,664 (GRCm38) missense probably damaging 1.00
R4515:Bsn UTSW 9 108,104,078 (GRCm38) splice site probably null
R4585:Bsn UTSW 9 108,110,463 (GRCm38) unclassified probably benign
R4628:Bsn UTSW 9 108,113,235 (GRCm38) missense probably damaging 1.00
R4636:Bsn UTSW 9 108,115,424 (GRCm38) missense probably damaging 1.00
R4679:Bsn UTSW 9 108,110,130 (GRCm38) missense unknown
R4723:Bsn UTSW 9 108,112,655 (GRCm38) missense probably benign 0.03
R4843:Bsn UTSW 9 108,107,189 (GRCm38) missense unknown
R4885:Bsn UTSW 9 108,107,527 (GRCm38) nonsense probably null
R4936:Bsn UTSW 9 108,111,761 (GRCm38) missense probably damaging 1.00
R4942:Bsn UTSW 9 108,106,479 (GRCm38) missense unknown
R4972:Bsn UTSW 9 108,115,178 (GRCm38) missense probably damaging 1.00
R4992:Bsn UTSW 9 108,115,548 (GRCm38) missense probably damaging 1.00
R5067:Bsn UTSW 9 108,111,953 (GRCm38) missense probably damaging 1.00
R5206:Bsn UTSW 9 108,105,373 (GRCm38) missense unknown
R5286:Bsn UTSW 9 108,110,924 (GRCm38) unclassified probably benign
R5492:Bsn UTSW 9 108,112,515 (GRCm38) missense probably damaging 0.98
R5553:Bsn UTSW 9 108,110,421 (GRCm38) unclassified probably benign
R5561:Bsn UTSW 9 108,105,511 (GRCm38) missense unknown
R5597:Bsn UTSW 9 108,114,932 (GRCm38) missense probably benign 0.06
R5646:Bsn UTSW 9 108,110,432 (GRCm38) unclassified probably benign
R5796:Bsn UTSW 9 108,126,024 (GRCm38) missense probably damaging 1.00
R5801:Bsn UTSW 9 108,113,009 (GRCm38) missense possibly damaging 0.81
R5802:Bsn UTSW 9 108,113,009 (GRCm38) missense possibly damaging 0.81
R5850:Bsn UTSW 9 108,114,950 (GRCm38) missense probably damaging 0.99
R5938:Bsn UTSW 9 108,113,009 (GRCm38) missense possibly damaging 0.81
R6221:Bsn UTSW 9 108,105,566 (GRCm38) missense unknown
R6243:Bsn UTSW 9 108,107,561 (GRCm38) missense unknown
R6254:Bsn UTSW 9 108,111,866 (GRCm38) missense probably damaging 0.96
R6263:Bsn UTSW 9 108,113,254 (GRCm38) missense probably damaging 1.00
R6345:Bsn UTSW 9 108,107,355 (GRCm38) missense unknown
R6368:Bsn UTSW 9 108,111,314 (GRCm38) unclassified probably benign
R6574:Bsn UTSW 9 108,113,954 (GRCm38) missense possibly damaging 0.95
R6793:Bsn UTSW 9 108,114,615 (GRCm38) nonsense probably null
R6802:Bsn UTSW 9 108,110,624 (GRCm38) unclassified probably benign
R6943:Bsn UTSW 9 108,107,817 (GRCm38) missense unknown
R6999:Bsn UTSW 9 108,113,433 (GRCm38) missense probably benign 0.00
R7149:Bsn UTSW 9 108,116,321 (GRCm38) nonsense probably null
R7199:Bsn UTSW 9 108,115,334 (GRCm38) missense probably damaging 1.00
R7322:Bsn UTSW 9 108,126,421 (GRCm38) nonsense probably null
R7349:Bsn UTSW 9 108,110,783 (GRCm38) missense unknown
R7372:Bsn UTSW 9 108,110,519 (GRCm38) missense unknown
R7373:Bsn UTSW 9 108,113,484 (GRCm38) missense probably damaging 1.00
R7413:Bsn UTSW 9 108,139,491 (GRCm38) missense possibly damaging 0.61
R7473:Bsn UTSW 9 108,112,250 (GRCm38) missense probably damaging 1.00
R7482:Bsn UTSW 9 108,113,529 (GRCm38) missense probably damaging 0.98
R7530:Bsn UTSW 9 108,111,956 (GRCm38) missense probably damaging 1.00
R7549:Bsn UTSW 9 108,114,815 (GRCm38) missense probably benign 0.05
R7570:Bsn UTSW 9 108,113,543 (GRCm38) missense probably damaging 1.00
R7635:Bsn UTSW 9 108,110,990 (GRCm38) missense unknown
R7696:Bsn UTSW 9 108,114,501 (GRCm38) missense probably damaging 1.00
R7757:Bsn UTSW 9 108,114,740 (GRCm38) missense possibly damaging 0.90
R7868:Bsn UTSW 9 108,114,899 (GRCm38) missense possibly damaging 0.95
R7897:Bsn UTSW 9 108,111,866 (GRCm38) missense probably damaging 0.98
R7960:Bsn UTSW 9 108,115,548 (GRCm38) missense probably damaging 1.00
R8022:Bsn UTSW 9 108,114,404 (GRCm38) missense probably benign 0.01
R8056:Bsn UTSW 9 108,105,307 (GRCm38) missense
R8158:Bsn UTSW 9 108,110,033 (GRCm38) missense unknown
R8161:Bsn UTSW 9 108,139,530 (GRCm38) missense probably benign 0.20
R8225:Bsn UTSW 9 108,107,106 (GRCm38) missense
R8282:Bsn UTSW 9 108,107,691 (GRCm38) missense possibly damaging 0.73
R8296:Bsn UTSW 9 108,117,379 (GRCm38) missense probably benign 0.00
R8415:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8417:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8426:Bsn UTSW 9 108,126,573 (GRCm38) missense probably damaging 1.00
R8437:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8438:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8439:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8440:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8441:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8442:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8513:Bsn UTSW 9 108,114,510 (GRCm38) missense possibly damaging 0.65
R8529:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8535:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8546:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8548:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8549:Bsn UTSW 9 108,111,452 (GRCm38) missense probably benign 0.00
R8682:Bsn UTSW 9 108,106,169 (GRCm38) missense
R8773:Bsn UTSW 9 108,110,505 (GRCm38) missense unknown
R8883:Bsn UTSW 9 108,113,028 (GRCm38) missense probably damaging 0.98
R8906:Bsn UTSW 9 108,107,553 (GRCm38) missense unknown
R9018:Bsn UTSW 9 108,117,289 (GRCm38) missense probably benign 0.06
R9070:Bsn UTSW 9 108,110,096 (GRCm38) missense
R9094:Bsn UTSW 9 108,110,853 (GRCm38) missense unknown
R9098:Bsn UTSW 9 108,112,974 (GRCm38) missense possibly damaging 0.65
R9128:Bsn UTSW 9 108,116,150 (GRCm38) missense probably benign 0.21
R9162:Bsn UTSW 9 108,110,684 (GRCm38) missense unknown
R9224:Bsn UTSW 9 108,105,487 (GRCm38) missense
R9230:Bsn UTSW 9 108,112,260 (GRCm38) missense probably damaging 1.00
R9233:Bsn UTSW 9 108,117,090 (GRCm38) missense probably benign 0.28
R9245:Bsn UTSW 9 108,116,093 (GRCm38) missense probably damaging 1.00
R9275:Bsn UTSW 9 108,111,620 (GRCm38) missense probably damaging 1.00
R9307:Bsn UTSW 9 108,115,794 (GRCm38) missense probably benign 0.01
R9343:Bsn UTSW 9 108,115,502 (GRCm38) missense probably damaging 1.00
R9377:Bsn UTSW 9 108,116,162 (GRCm38) missense probably damaging 1.00
R9377:Bsn UTSW 9 108,113,601 (GRCm38) missense probably damaging 1.00
R9378:Bsn UTSW 9 108,107,655 (GRCm38) missense possibly damaging 0.85
R9408:Bsn UTSW 9 108,139,453 (GRCm38) nonsense probably null
R9455:Bsn UTSW 9 108,111,332 (GRCm38) missense unknown
R9563:Bsn UTSW 9 108,107,417 (GRCm38) missense
R9615:Bsn UTSW 9 108,107,231 (GRCm38) missense
R9656:Bsn UTSW 9 108,117,208 (GRCm38) missense probably benign 0.09
R9698:Bsn UTSW 9 108,115,971 (GRCm38) missense probably damaging 1.00
X0028:Bsn UTSW 9 108,113,504 (GRCm38) missense probably damaging 1.00
X0066:Bsn UTSW 9 108,139,210 (GRCm38) missense probably damaging 1.00
Z1177:Bsn UTSW 9 108,139,195 (GRCm38) missense probably damaging 1.00
Z1177:Bsn UTSW 9 108,105,499 (GRCm38) missense
Posted On 2015-04-16