Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01336:Bsn'

74640

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bsn

Ensembl Gene

ENSMUSG00000032589

Gene Name

bassoon

Synonyms

presynaptic cytomatrix protein

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

IGL01336

Quality Score

Status

Chromosome

Chromosomal Location

107973221-108067583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107988984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2256 (V2256A)

Ref Sequence

ENSEMBL: ENSMUSP00000035208 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035208
AA Change: V2256A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589
AA Change: V2256A

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	G	T	11: 100,386,736 (GRCm39)	L599I	probably benign	Het
Adcyap1	A	G	17: 93,511,392 (GRCm39)	D122G	probably benign	Het
Ahr	A	G	12: 35,553,839 (GRCm39)	V760A	probably benign	Het
Ankrd7	T	C	6: 18,868,277 (GRCm39)	V133A	probably benign	Het
Cblb	A	G	16: 52,006,592 (GRCm39)	K765E	probably benign	Het
Clmp	A	G	9: 40,693,906 (GRCm39)	*374W	probably null	Het
Ddc	A	G	11: 11,796,630 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,852,576 (GRCm39)	Y1878C	probably damaging	Het
Ei24	A	G	9: 36,697,777 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,201,493 (GRCm39)	M118T	probably damaging	Het
Il6st	T	C	13: 112,616,773 (GRCm39)	S107P	possibly damaging	Het
Map2k6	A	G	11: 110,387,237 (GRCm39)	Y203C	probably damaging	Het
Mettl27	C	T	5: 134,964,734 (GRCm39)		probably benign	Het
Mrps14	G	A	1: 160,024,565 (GRCm39)	W32*	probably null	Het
Naaa	A	C	5: 92,412,992 (GRCm39)	M208R	probably benign	Het
Nat2	A	G	8: 67,954,193 (GRCm39)	Y101C	probably damaging	Het
Ncoa3	A	G	2: 165,896,443 (GRCm39)	S449G	probably benign	Het
Or4e5	A	G	14: 52,728,205 (GRCm39)	I72T	probably damaging	Het
Or6z7	T	C	7: 6,483,997 (GRCm39)	I53V	probably benign	Het
Phykpl	G	A	11: 51,490,283 (GRCm39)		probably benign	Het
Psma5-ps	T	C	10: 85,150,028 (GRCm39)		noncoding transcript	Het
Rasgrf1	A	T	9: 89,873,583 (GRCm39)	M631L	probably benign	Het
Rgma	G	A	7: 73,059,066 (GRCm39)	V57M	possibly damaging	Het
Samd4b	G	T	7: 28,113,388 (GRCm39)	D192E	probably benign	Het
Sesn2	T	C	4: 132,226,678 (GRCm39)	T139A	probably benign	Het
Slc30a6	A	G	17: 74,715,834 (GRCm39)		probably benign	Het
Spata31f1e	T	A	4: 42,793,784 (GRCm39)	Q116L	possibly damaging	Het
Stra8	T	C	6: 34,910,123 (GRCm39)	Y182H	possibly damaging	Het
Trim31	C	A	17: 37,220,269 (GRCm39)	A395E	probably damaging	Het
Trp53bp2	G	T	1: 182,259,148 (GRCm39)	R67L	probably damaging	Het
Trpa1	A	C	1: 14,957,104 (GRCm39)		probably benign	Het
Wdr91	G	A	6: 34,886,478 (GRCm39)		probably benign	Het

Other mutations in Bsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Bsn	APN	9	107,992,309 (GRCm39)	missense	probably benign	0.01
IGL00330:Bsn	APN	9	107,992,539 (GRCm39)	missense	probably damaging	1.00
IGL00863:Bsn	APN	9	107,992,521 (GRCm39)	missense	probably damaging	1.00
IGL01123:Bsn	APN	9	107,993,185 (GRCm39)	missense	probably damaging	1.00
IGL01330:Bsn	APN	9	107,988,112 (GRCm39)	unclassified	probably benign
IGL01399:Bsn	APN	9	107,984,386 (GRCm39)	missense	unknown
IGL01683:Bsn	APN	9	107,992,095 (GRCm39)	missense	possibly damaging	0.71
IGL02022:Bsn	APN	9	107,987,617 (GRCm39)	unclassified	probably benign
IGL02396:Bsn	APN	9	107,993,245 (GRCm39)	missense	possibly damaging	0.90
IGL02538:Bsn	APN	9	107,982,435 (GRCm39)	missense	unknown
IGL02565:Bsn	APN	9	107,990,487 (GRCm39)	missense	probably damaging	0.99
IGL02661:Bsn	APN	9	107,984,135 (GRCm39)	nonsense	probably null
IGL02739:Bsn	APN	9	107,989,745 (GRCm39)	missense	probably benign	0.14
IGL02951:Bsn	APN	9	107,992,812 (GRCm39)	missense	probably damaging	1.00
IGL02987:Bsn	APN	9	108,003,503 (GRCm39)	missense	probably benign	0.03
IGL03033:Bsn	APN	9	107,993,192 (GRCm39)	missense	probably damaging	1.00
IGL03069:Bsn	APN	9	107,991,462 (GRCm39)	missense	probably damaging	1.00
IGL03076:Bsn	APN	9	107,982,581 (GRCm39)	missense	unknown
R0068:Bsn	UTSW	9	107,989,336 (GRCm39)	missense	probably damaging	1.00
R0068:Bsn	UTSW	9	107,989,336 (GRCm39)	missense	probably damaging	1.00
R0167:Bsn	UTSW	9	108,003,185 (GRCm39)	missense	probably benign	0.01
R0234:Bsn	UTSW	9	107,993,595 (GRCm39)	missense	possibly damaging	0.50
R0234:Bsn	UTSW	9	107,993,595 (GRCm39)	missense	possibly damaging	0.50
R0359:Bsn	UTSW	9	107,989,045 (GRCm39)	missense	possibly damaging	0.81
R0514:Bsn	UTSW	9	108,002,981 (GRCm39)	missense	probably benign	0.07
R0593:Bsn	UTSW	9	107,987,505 (GRCm39)	missense	unknown
R0617:Bsn	UTSW	9	107,984,439 (GRCm39)	missense	unknown
R0636:Bsn	UTSW	9	107,985,033 (GRCm39)	missense	unknown
R0652:Bsn	UTSW	9	107,982,941 (GRCm39)	missense	unknown
R0718:Bsn	UTSW	9	107,988,559 (GRCm39)	unclassified	probably benign
R0730:Bsn	UTSW	9	107,984,011 (GRCm39)	missense	unknown
R0905:Bsn	UTSW	9	107,982,834 (GRCm39)	missense	unknown
R0963:Bsn	UTSW	9	107,989,006 (GRCm39)	missense	possibly damaging	0.81
R0992:Bsn	UTSW	9	107,991,553 (GRCm39)	nonsense	probably null
R1101:Bsn	UTSW	9	107,993,610 (GRCm39)	missense	probably damaging	1.00
R1393:Bsn	UTSW	9	107,987,716 (GRCm39)	unclassified	probably benign
R1490:Bsn	UTSW	9	107,991,193 (GRCm39)	missense	probably benign	0.03
R1566:Bsn	UTSW	9	108,003,184 (GRCm39)	missense	probably benign	0.35
R1582:Bsn	UTSW	9	107,982,291 (GRCm39)	missense	unknown
R1738:Bsn	UTSW	9	107,984,133 (GRCm39)	missense	unknown
R1867:Bsn	UTSW	9	107,983,918 (GRCm39)	missense	unknown
R1918:Bsn	UTSW	9	107,984,772 (GRCm39)	missense	unknown
R1933:Bsn	UTSW	9	107,993,643 (GRCm39)	missense	possibly damaging	0.91
R1946:Bsn	UTSW	9	107,991,850 (GRCm39)	missense	probably damaging	0.99
R1978:Bsn	UTSW	9	107,991,748 (GRCm39)	missense	probably benign	0.35
R2068:Bsn	UTSW	9	108,003,749 (GRCm39)	missense	possibly damaging	0.95
R2068:Bsn	UTSW	9	107,987,883 (GRCm39)	unclassified	probably benign
R2113:Bsn	UTSW	9	107,992,085 (GRCm39)	missense	probably benign	0.14
R2136:Bsn	UTSW	9	107,990,430 (GRCm39)	missense	probably damaging	1.00
R2172:Bsn	UTSW	9	107,987,191 (GRCm39)	intron	probably benign
R2266:Bsn	UTSW	9	107,992,323 (GRCm39)	missense	probably damaging	1.00
R2293:Bsn	UTSW	9	107,990,266 (GRCm39)	missense	possibly damaging	0.47
R2294:Bsn	UTSW	9	107,990,266 (GRCm39)	missense	possibly damaging	0.47
R2368:Bsn	UTSW	9	107,988,229 (GRCm39)	nonsense	probably null
R2442:Bsn	UTSW	9	107,984,119 (GRCm39)	missense	unknown
R2507:Bsn	UTSW	9	107,993,313 (GRCm39)	missense	probably damaging	1.00
R2880:Bsn	UTSW	9	107,990,266 (GRCm39)	missense	possibly damaging	0.47
R2881:Bsn	UTSW	9	107,990,266 (GRCm39)	missense	possibly damaging	0.47
R2922:Bsn	UTSW	9	107,992,668 (GRCm39)	missense	probably damaging	1.00
R2922:Bsn	UTSW	9	107,985,385 (GRCm39)	missense	unknown
R3618:Bsn	UTSW	9	107,994,760 (GRCm39)	critical splice acceptor site	probably null
R3742:Bsn	UTSW	9	107,982,938 (GRCm39)	missense	unknown
R3825:Bsn	UTSW	9	107,984,055 (GRCm39)	missense	unknown
R3982:Bsn	UTSW	9	107,984,365 (GRCm39)	missense	unknown
R4094:Bsn	UTSW	9	107,991,069 (GRCm39)	missense	probably damaging	1.00
R4158:Bsn	UTSW	9	107,990,145 (GRCm39)	missense	possibly damaging	0.95
R4225:Bsn	UTSW	9	107,983,932 (GRCm39)	missense	unknown
R4261:Bsn	UTSW	9	107,987,883 (GRCm39)	unclassified	probably benign
R4482:Bsn	UTSW	9	107,991,863 (GRCm39)	missense	probably damaging	1.00
R4515:Bsn	UTSW	9	107,981,277 (GRCm39)	splice site	probably null
R4585:Bsn	UTSW	9	107,987,662 (GRCm39)	unclassified	probably benign
R4628:Bsn	UTSW	9	107,990,434 (GRCm39)	missense	probably damaging	1.00
R4636:Bsn	UTSW	9	107,992,623 (GRCm39)	missense	probably damaging	1.00
R4679:Bsn	UTSW	9	107,987,329 (GRCm39)	missense	unknown
R4723:Bsn	UTSW	9	107,989,854 (GRCm39)	missense	probably benign	0.03
R4843:Bsn	UTSW	9	107,984,388 (GRCm39)	missense	unknown
R4885:Bsn	UTSW	9	107,984,726 (GRCm39)	nonsense	probably null
R4936:Bsn	UTSW	9	107,988,960 (GRCm39)	missense	probably damaging	1.00
R4942:Bsn	UTSW	9	107,983,678 (GRCm39)	missense	unknown
R4972:Bsn	UTSW	9	107,992,377 (GRCm39)	missense	probably damaging	1.00
R4992:Bsn	UTSW	9	107,992,747 (GRCm39)	missense	probably damaging	1.00
R5067:Bsn	UTSW	9	107,989,152 (GRCm39)	missense	probably damaging	1.00
R5206:Bsn	UTSW	9	107,982,572 (GRCm39)	missense	unknown
R5286:Bsn	UTSW	9	107,988,123 (GRCm39)	unclassified	probably benign
R5492:Bsn	UTSW	9	107,989,714 (GRCm39)	missense	probably damaging	0.98
R5553:Bsn	UTSW	9	107,987,620 (GRCm39)	unclassified	probably benign
R5561:Bsn	UTSW	9	107,982,710 (GRCm39)	missense	unknown
R5597:Bsn	UTSW	9	107,992,131 (GRCm39)	missense	probably benign	0.06
R5646:Bsn	UTSW	9	107,987,631 (GRCm39)	unclassified	probably benign
R5796:Bsn	UTSW	9	108,003,223 (GRCm39)	missense	probably damaging	1.00
R5801:Bsn	UTSW	9	107,990,208 (GRCm39)	missense	possibly damaging	0.81
R5802:Bsn	UTSW	9	107,990,208 (GRCm39)	missense	possibly damaging	0.81
R5850:Bsn	UTSW	9	107,992,149 (GRCm39)	missense	probably damaging	0.99
R5938:Bsn	UTSW	9	107,990,208 (GRCm39)	missense	possibly damaging	0.81
R6221:Bsn	UTSW	9	107,982,765 (GRCm39)	missense	unknown
R6243:Bsn	UTSW	9	107,984,760 (GRCm39)	missense	unknown
R6254:Bsn	UTSW	9	107,989,065 (GRCm39)	missense	probably damaging	0.96
R6263:Bsn	UTSW	9	107,990,453 (GRCm39)	missense	probably damaging	1.00
R6345:Bsn	UTSW	9	107,984,554 (GRCm39)	missense	unknown
R6368:Bsn	UTSW	9	107,988,513 (GRCm39)	unclassified	probably benign
R6574:Bsn	UTSW	9	107,991,153 (GRCm39)	missense	possibly damaging	0.95
R6793:Bsn	UTSW	9	107,991,814 (GRCm39)	nonsense	probably null
R6802:Bsn	UTSW	9	107,987,823 (GRCm39)	unclassified	probably benign
R6943:Bsn	UTSW	9	107,985,016 (GRCm39)	missense	unknown
R6999:Bsn	UTSW	9	107,990,632 (GRCm39)	missense	probably benign	0.00
R7149:Bsn	UTSW	9	107,993,520 (GRCm39)	nonsense	probably null
R7199:Bsn	UTSW	9	107,992,533 (GRCm39)	missense	probably damaging	1.00
R7322:Bsn	UTSW	9	108,003,620 (GRCm39)	nonsense	probably null
R7349:Bsn	UTSW	9	107,987,982 (GRCm39)	missense	unknown
R7372:Bsn	UTSW	9	107,987,718 (GRCm39)	missense	unknown
R7373:Bsn	UTSW	9	107,990,683 (GRCm39)	missense	probably damaging	1.00
R7413:Bsn	UTSW	9	108,016,690 (GRCm39)	missense	possibly damaging	0.61
R7473:Bsn	UTSW	9	107,989,449 (GRCm39)	missense	probably damaging	1.00
R7482:Bsn	UTSW	9	107,990,728 (GRCm39)	missense	probably damaging	0.98
R7530:Bsn	UTSW	9	107,989,155 (GRCm39)	missense	probably damaging	1.00
R7549:Bsn	UTSW	9	107,992,014 (GRCm39)	missense	probably benign	0.05
R7570:Bsn	UTSW	9	107,990,742 (GRCm39)	missense	probably damaging	1.00
R7635:Bsn	UTSW	9	107,988,189 (GRCm39)	missense	unknown
R7696:Bsn	UTSW	9	107,991,700 (GRCm39)	missense	probably damaging	1.00
R7757:Bsn	UTSW	9	107,991,939 (GRCm39)	missense	possibly damaging	0.90
R7868:Bsn	UTSW	9	107,992,098 (GRCm39)	missense	possibly damaging	0.95
R7897:Bsn	UTSW	9	107,989,065 (GRCm39)	missense	probably damaging	0.98
R7960:Bsn	UTSW	9	107,992,747 (GRCm39)	missense	probably damaging	1.00
R8022:Bsn	UTSW	9	107,991,603 (GRCm39)	missense	probably benign	0.01
R8056:Bsn	UTSW	9	107,982,506 (GRCm39)	missense
R8158:Bsn	UTSW	9	107,987,232 (GRCm39)	missense	unknown
R8161:Bsn	UTSW	9	108,016,729 (GRCm39)	missense	probably benign	0.20
R8225:Bsn	UTSW	9	107,984,305 (GRCm39)	missense
R8282:Bsn	UTSW	9	107,984,890 (GRCm39)	missense	possibly damaging	0.73
R8296:Bsn	UTSW	9	107,994,578 (GRCm39)	missense	probably benign	0.00
R8415:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8417:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8426:Bsn	UTSW	9	108,003,772 (GRCm39)	missense	probably damaging	1.00
R8437:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8438:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8439:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8440:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8441:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8442:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8513:Bsn	UTSW	9	107,991,709 (GRCm39)	missense	possibly damaging	0.65
R8529:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8535:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8546:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8548:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8549:Bsn	UTSW	9	107,988,651 (GRCm39)	missense	probably benign	0.00
R8682:Bsn	UTSW	9	107,983,368 (GRCm39)	missense
R8773:Bsn	UTSW	9	107,987,704 (GRCm39)	missense	unknown
R8883:Bsn	UTSW	9	107,990,227 (GRCm39)	missense	probably damaging	0.98
R8906:Bsn	UTSW	9	107,984,752 (GRCm39)	missense	unknown
R9018:Bsn	UTSW	9	107,994,488 (GRCm39)	missense	probably benign	0.06
R9070:Bsn	UTSW	9	107,987,295 (GRCm39)	missense
R9094:Bsn	UTSW	9	107,988,052 (GRCm39)	missense	unknown
R9098:Bsn	UTSW	9	107,990,173 (GRCm39)	missense	possibly damaging	0.65
R9128:Bsn	UTSW	9	107,993,349 (GRCm39)	missense	probably benign	0.21
R9162:Bsn	UTSW	9	107,987,883 (GRCm39)	missense	unknown
R9224:Bsn	UTSW	9	107,982,686 (GRCm39)	missense
R9230:Bsn	UTSW	9	107,989,459 (GRCm39)	missense	probably damaging	1.00
R9233:Bsn	UTSW	9	107,994,289 (GRCm39)	missense	probably benign	0.28
R9245:Bsn	UTSW	9	107,993,292 (GRCm39)	missense	probably damaging	1.00
R9275:Bsn	UTSW	9	107,988,819 (GRCm39)	missense	probably damaging	1.00
R9307:Bsn	UTSW	9	107,992,993 (GRCm39)	missense	probably benign	0.01
R9343:Bsn	UTSW	9	107,992,701 (GRCm39)	missense	probably damaging	1.00
R9377:Bsn	UTSW	9	107,993,361 (GRCm39)	missense	probably damaging	1.00
R9377:Bsn	UTSW	9	107,990,800 (GRCm39)	missense	probably damaging	1.00
R9378:Bsn	UTSW	9	107,984,854 (GRCm39)	missense	possibly damaging	0.85
R9408:Bsn	UTSW	9	108,016,652 (GRCm39)	nonsense	probably null
R9455:Bsn	UTSW	9	107,988,531 (GRCm39)	missense	unknown
R9563:Bsn	UTSW	9	107,984,616 (GRCm39)	missense
R9615:Bsn	UTSW	9	107,984,430 (GRCm39)	missense
R9656:Bsn	UTSW	9	107,994,407 (GRCm39)	missense	probably benign	0.09
R9698:Bsn	UTSW	9	107,993,170 (GRCm39)	missense	probably damaging	1.00
X0028:Bsn	UTSW	9	107,990,703 (GRCm39)	missense	probably damaging	1.00
X0066:Bsn	UTSW	9	108,016,409 (GRCm39)	missense	probably damaging	1.00
Z1177:Bsn	UTSW	9	108,016,394 (GRCm39)	missense	probably damaging	1.00
Z1177:Bsn	UTSW	9	107,982,698 (GRCm39)	missense

Posted On

2013-10-07