Mutagenetix > Incidental Mutation

Incidental Mutation 'R2368:Bsn'

246403

Institutional Source

Beutler Lab

Gene Symbol

Bsn

Ensembl Gene

ENSMUSG00000032589

Gene Name

bassoon

Synonyms

presynaptic cytomatrix protein

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R2368 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

108096022-108190384 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 108111030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 2508 (Q2508*)

Ref Sequence

ENSEMBL: ENSMUSP00000035208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035208]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000035208
AA Change: Q2508*

SMART Domains

Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589
AA Change: Q2508*

Domain	Start	End	E-Value	Type
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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,350,012 (GRCm38)	K102E	possibly damaging	Het
Cc2d2a	A	G	5: 43,703,888 (GRCm38)	T549A	probably benign	Het
Lyst	A	T	13: 13,696,663 (GRCm38)	S2662C	probably damaging	Het
Nek9	A	G	12: 85,329,887 (GRCm38)	V240A	possibly damaging	Het
Nol4l	T	C	2: 153,418,039 (GRCm38)	D165G	probably damaging	Het
Or10ak12	A	G	4: 118,809,822 (GRCm38)	V14A	probably benign	Het
Or14j5	A	T	17: 37,850,618 (GRCm38)	M9L	probably benign	Het
Or5p69	A	G	7: 108,368,369 (GRCm38)	Y293C	probably damaging	Het
Or8h8	A	T	2: 86,923,107 (GRCm38)	Y142N	probably benign	Het
Plin5	T	C	17: 56,115,588 (GRCm38)	E116G	probably damaging	Het
Slc35d2	C	T	13: 64,129,305 (GRCm38)	M1I	probably null	Het
Srgap1	A	T	10: 121,829,289 (GRCm38)	S493T	probably benign	Het
Syt9	T	A	7: 107,436,699 (GRCm38)	Y308N	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562 (GRCm38)		probably benign	Het
Ttc23l	G	A	15: 10,537,566 (GRCm38)	S206L	probably benign	Het
Vmn2r74	C	T	7: 85,961,314 (GRCm38)	D57N	probably benign	Het
Vstm5	A	T	9: 15,257,731 (GRCm38)	M166L	probably benign	Het
Zbtb12	T	C	17: 34,895,698 (GRCm38)	L153P	possibly damaging	Het

Other mutations in Bsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02739:Bsn	APN	9	108,112,546 (GRCm38)	missense	probably benign	0.14
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
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

Predicted Primers

PCR Primer
(F):5'- GTGACGTTTCTTGATGCCAC -3'
(R):5'- AGACCATCAAGCAGCATGTG -3'

Sequencing Primer
(F):5'- GACGTTTCTTGATGCCACTACGG -3'
(R):5'- CAGTTTGCACTGCAGCGTGAG -3'

Posted On

2014-10-30