Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Bsn'

232799

Institutional Source

Beutler Lab

Gene Symbol

Bsn

Ensembl Gene

ENSMUSG00000032589

Gene Name

bassoon

Synonyms

presynaptic cytomatrix protein

MMRRC Submission

040117-MU

Accession Numbers

Genbank: NM_007567; MGI: 1277955

Essential gene?

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

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108096022-108190384 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108114886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1222 (H1222Q)

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: H1222Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589
AA Change: H1222Q

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,772	V549A	probably benign	Het
Abcd4	C	A	12: 84,609,016	G295*	probably null	Het
Acad9	T	C	3: 36,074,376	Y129H	probably damaging	Het
Actn4	C	T	7: 28,898,124	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,481,115	N300K	probably damaging	Het
Adh5	A	G	3: 138,451,484	I269V	probably benign	Het
Afap1l2	G	A	19: 56,913,389	A842V	possibly damaging	Het
AI429214	A	T	8: 36,994,000	K101*	probably null	Het
Alg10b	T	A	15: 90,225,657	W58R	probably damaging	Het
Alpk2	C	T	18: 65,305,683	E1347K	probably benign	Het
Amotl2	G	T	9: 102,724,723	E389*	probably null	Het
Ap5m1	G	A	14: 49,086,248	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,229,214	S48R	probably damaging	Het
Asb1	T	C	1: 91,544,228	L34P	probably damaging	Het
Atg14	C	T	14: 47,551,324	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,441,284	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,755,616	Q1217*	probably null	Het
Catsper4	A	T	4: 134,218,241	V169E	probably damaging	Het
Cbx4	C	T	11: 119,081,892	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,032	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,838,470	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,679,102	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,068,155	V272A	probably benign	Het
Cgn	A	T	3: 94,779,806	V62D	probably damaging	Het
Ckap4	T	G	10: 84,533,523	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,169,824		probably null	Het
Clmn	A	T	12: 104,780,808	S827T	probably benign	Het
Cntn4	T	C	6: 106,489,697	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,188,365	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,274,415	Q329R	probably benign	Het
Col1a1	T	A	11: 94,948,362	S979T	unknown	Het
Crat	T	A	2: 30,402,642	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,330,264	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,617,616	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,703,280		probably null	Het
Dicer1	A	T	12: 104,713,214	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,766,141	I1001V	probably damaging	Het
Dnase2a	T	A	8: 84,910,871	C301S	probably damaging	Het
Dock10	T	A	1: 80,606,563	D142V	probably damaging	Het
Dpp8	G	A	9: 65,063,868	C590Y	probably benign	Het
Dst	T	A	1: 34,275,236	M6707K	probably damaging	Het
Duox1	T	C	2: 122,337,254	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,629,986	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,804,003	D1011E	probably damaging	Het
Epc2	T	A	2: 49,532,223	D376E	probably benign	Het
Eps8	C	A	6: 137,537,635		probably null	Het
F11	T	C	8: 45,246,832	T406A	probably benign	Het
Fat3	T	G	9: 15,999,786	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,959,105	R47S	probably benign	Het
Fbxo28	A	T	1: 182,329,925	V109E	probably damaging	Het
Fn1	A	T	1: 71,626,164	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,643,036	D9G	probably damaging	Het
Frem2	G	A	3: 53,652,922	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,781,178	T185N	probably damaging	Het
Glo1	A	T	17: 30,604,040	Y49*	probably null	Het
Gtsf2	T	C	15: 103,439,673	M137V	probably benign	Het
Gzmk	C	T	13: 113,173,955	G110S	probably benign	Het
Hdac9	G	T	12: 34,389,332	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,733,269	T456I	possibly damaging	Het
Ino80	T	A	2: 119,454,084	H172L	probably damaging	Het
Itgb8	A	C	12: 119,190,612	L230R	probably damaging	Het
Klf9	C	T	19: 23,164,688	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,583,387	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,135,658	F67L	unknown	Het
Maml3	T	A	3: 51,690,656	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,615,847		probably null	Het
Mettl3	A	G	14: 52,294,984	*104Q	probably null	Het
Msrb3	T	A	10: 120,852,080	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,220,076	T1562A	probably damaging	Het
Nat14	T	C	7: 4,924,039	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,625,406	T2685A	probably damaging	Het
Nek1	A	G	8: 61,016,293	D128G	probably damaging	Het
Nfam1	T	A	15: 83,015,001	K155*	probably null	Het
Noc4l	A	T	5: 110,650,559	M255K	possibly damaging	Het
Nolc1	CAG	CAGGAG	19: 46,081,359		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,361		probably benign	Het
Nprl2	T	C	9: 107,545,312	S334P	probably benign	Het
Nsrp1	A	G	11: 77,046,570	S267P	probably benign	Het
Ntn4	A	T	10: 93,644,839	M142L	probably damaging	Het
Nup188	T	A	2: 30,304,101	C139*	probably null	Het
Nup210l	A	T	3: 90,190,974	N1411I	possibly damaging	Het
Olfr1510	A	G	14: 52,410,296	L192P	probably damaging	Het
Olfr994	T	G	2: 85,430,086	T248P	probably damaging	Het
Pard3	A	T	8: 127,388,537	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,671,556	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,115,071	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,818,984	D917V	probably damaging	Het
Plekhg4	T	A	8: 105,379,434	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 101,077,309	R189H	probably benign	Het
Ptpn18	T	A	1: 34,471,661	S235R	probably damaging	Het
Rabep2	A	G	7: 126,445,288		probably null	Het
Rbp3	T	G	14: 33,956,057	I654S	probably benign	Het
Rimbp3	T	C	16: 17,209,675	L321P	probably benign	Het
Rims2	T	A	15: 39,511,326	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,483,021	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,424,103		probably null	Het
Scn7a	C	T	2: 66,675,968	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,337,811	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,013,105	M1185K	probably damaging	Het
Slain1	C	A	14: 103,650,846	D67E	possibly damaging	Het
Snx33	T	C	9: 56,926,440	D115G	probably benign	Het
Sowaha	G	A	11: 53,478,962	R316C	probably damaging	Het
Spata17	A	T	1: 187,097,911	F309I	possibly damaging	Het
Spata48	G	A	11: 11,490,293		probably null	Het
Ssrp1	G	T	2: 85,043,006		probably null	Het
St6gal1	C	G	16: 23,328,417	T225S	probably damaging	Het
Sulf1	C	G	1: 12,848,174	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,153,086	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,797,044	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,993,322	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,872	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,657,936	I222N	probably damaging	Het
Trrap	T	A	5: 144,844,211	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,712,610	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,235,536	T100S	probably damaging	Het
Uxs1	A	G	1: 43,771,773	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,187,630	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r7	A	G	3: 64,691,604	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,194	L621P	probably damaging	Het
Vps45	A	T	3: 96,047,053	M174K	probably benign	Het
Wdr72	A	T	9: 74,145,172	M162L	probably benign	Het
Wdr81	T	A	11: 75,453,635	M269L	probably benign	Het
Zfp53	A	G	17: 21,508,451	T249A	probably benign	Het
Zfp758	T	C	17: 22,361,645	S22P	probably benign	Het
Zfp780b	T	C	7: 27,963,873	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,518,693	Y45N	probably damaging	Het

Other mutations in Bsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Bsn	APN	9	108115110	missense	probably benign	0.01
IGL00330:Bsn	APN	9	108115340	missense	probably damaging	1.00
IGL00863:Bsn	APN	9	108115322	missense	probably damaging	1.00
IGL01123:Bsn	APN	9	108115986	missense	probably damaging	1.00
IGL01330:Bsn	APN	9	108110913	unclassified	probably benign
IGL01336:Bsn	APN	9	108111785	missense	probably damaging	0.99
IGL01399:Bsn	APN	9	108107187	missense	unknown
IGL01683:Bsn	APN	9	108114896	missense	possibly damaging	0.71
IGL02022:Bsn	APN	9	108110418	unclassified	probably benign
IGL02396:Bsn	APN	9	108116046	missense	possibly damaging	0.90
IGL02538:Bsn	APN	9	108105236	missense	unknown
IGL02565:Bsn	APN	9	108113288	missense	probably damaging	0.99
IGL02661:Bsn	APN	9	108106936	nonsense	probably null
IGL02739:Bsn	APN	9	108112546	missense	probably benign	0.14
IGL02951:Bsn	APN	9	108115613	missense	probably damaging	1.00
IGL02987:Bsn	APN	9	108126304	missense	probably benign	0.03
IGL03033:Bsn	APN	9	108115993	missense	probably damaging	1.00
IGL03069:Bsn	APN	9	108114263	missense	probably damaging	1.00
IGL03076:Bsn	APN	9	108105382	missense	unknown
R0068:Bsn	UTSW	9	108112137	missense	probably damaging	1.00
R0068:Bsn	UTSW	9	108112137	missense	probably damaging	1.00
R0167:Bsn	UTSW	9	108125986	missense	probably benign	0.01
R0234:Bsn	UTSW	9	108116396	missense	possibly damaging	0.50
R0234:Bsn	UTSW	9	108116396	missense	possibly damaging	0.50
R0359:Bsn	UTSW	9	108111846	missense	possibly damaging	0.81
R0514:Bsn	UTSW	9	108125782	missense	probably benign	0.07
R0593:Bsn	UTSW	9	108110306	missense	unknown
R0617:Bsn	UTSW	9	108107240	missense	unknown
R0636:Bsn	UTSW	9	108107834	missense	unknown
R0652:Bsn	UTSW	9	108105742	missense	unknown
R0718:Bsn	UTSW	9	108111360	unclassified	probably benign
R0730:Bsn	UTSW	9	108106812	missense	unknown
R0905:Bsn	UTSW	9	108105635	missense	unknown
R0963:Bsn	UTSW	9	108111807	missense	possibly damaging	0.81
R0992:Bsn	UTSW	9	108114354	nonsense	probably null
R1101:Bsn	UTSW	9	108116411	missense	probably damaging	1.00
R1393:Bsn	UTSW	9	108110517	unclassified	probably benign
R1490:Bsn	UTSW	9	108113994	missense	probably benign	0.03
R1566:Bsn	UTSW	9	108125985	missense	probably benign	0.35
R1582:Bsn	UTSW	9	108105092	missense	unknown
R1738:Bsn	UTSW	9	108106934	missense	unknown
R1867:Bsn	UTSW	9	108106719	missense	unknown
R1918:Bsn	UTSW	9	108107573	missense	unknown
R1933:Bsn	UTSW	9	108116444	missense	possibly damaging	0.91
R1946:Bsn	UTSW	9	108114651	missense	probably damaging	0.99
R1978:Bsn	UTSW	9	108114549	missense	probably benign	0.35
R2068:Bsn	UTSW	9	108110684	unclassified	probably benign
R2068:Bsn	UTSW	9	108126550	missense	possibly damaging	0.95
R2136:Bsn	UTSW	9	108113231	missense	probably damaging	1.00
R2172:Bsn	UTSW	9	108109992	intron	probably benign
R2266:Bsn	UTSW	9	108115124	missense	probably damaging	1.00
R2293:Bsn	UTSW	9	108113067	missense	possibly damaging	0.47
R2294:Bsn	UTSW	9	108113067	missense	possibly damaging	0.47
R2368:Bsn	UTSW	9	108111030	nonsense	probably null
R2442:Bsn	UTSW	9	108106920	missense	unknown
R2507:Bsn	UTSW	9	108116114	missense	probably damaging	1.00
R2880:Bsn	UTSW	9	108113067	missense	possibly damaging	0.47
R2881:Bsn	UTSW	9	108113067	missense	possibly damaging	0.47
R2922:Bsn	UTSW	9	108108186	missense	unknown
R2922:Bsn	UTSW	9	108115469	missense	probably damaging	1.00
R3618:Bsn	UTSW	9	108117561	critical splice acceptor site	probably null
R3742:Bsn	UTSW	9	108105739	missense	unknown
R3825:Bsn	UTSW	9	108106856	missense	unknown
R3982:Bsn	UTSW	9	108107166	missense	unknown
R4094:Bsn	UTSW	9	108113870	missense	probably damaging	1.00
R4158:Bsn	UTSW	9	108112946	missense	possibly damaging	0.95
R4225:Bsn	UTSW	9	108106733	missense	unknown
R4261:Bsn	UTSW	9	108110684	unclassified	probably benign
R4482:Bsn	UTSW	9	108114664	missense	probably damaging	1.00
R4515:Bsn	UTSW	9	108104078	splice site	probably null
R4585:Bsn	UTSW	9	108110463	unclassified	probably benign
R4628:Bsn	UTSW	9	108113235	missense	probably damaging	1.00
R4636:Bsn	UTSW	9	108115424	missense	probably damaging	1.00
R4679:Bsn	UTSW	9	108110130	missense	unknown
R4723:Bsn	UTSW	9	108112655	missense	probably benign	0.03
R4843:Bsn	UTSW	9	108107189	missense	unknown
R4885:Bsn	UTSW	9	108107527	nonsense	probably null
R4936:Bsn	UTSW	9	108111761	missense	probably damaging	1.00
R4942:Bsn	UTSW	9	108106479	missense	unknown
R4972:Bsn	UTSW	9	108115178	missense	probably damaging	1.00
R4992:Bsn	UTSW	9	108115548	missense	probably damaging	1.00
R5067:Bsn	UTSW	9	108111953	missense	probably damaging	1.00
R5206:Bsn	UTSW	9	108105373	missense	unknown
R5286:Bsn	UTSW	9	108110924	unclassified	probably benign
R5492:Bsn	UTSW	9	108112515	missense	probably damaging	0.98
R5553:Bsn	UTSW	9	108110421	unclassified	probably benign
R5561:Bsn	UTSW	9	108105511	missense	unknown
R5597:Bsn	UTSW	9	108114932	missense	probably benign	0.06
R5646:Bsn	UTSW	9	108110432	unclassified	probably benign
R5796:Bsn	UTSW	9	108126024	missense	probably damaging	1.00
R5801:Bsn	UTSW	9	108113009	missense	possibly damaging	0.81
R5802:Bsn	UTSW	9	108113009	missense	possibly damaging	0.81
R5850:Bsn	UTSW	9	108114950	missense	probably damaging	0.99
R5938:Bsn	UTSW	9	108113009	missense	possibly damaging	0.81
R6221:Bsn	UTSW	9	108105566	missense	unknown
R6243:Bsn	UTSW	9	108107561	missense	unknown
R6254:Bsn	UTSW	9	108111866	missense	probably damaging	0.96
R6263:Bsn	UTSW	9	108113254	missense	probably damaging	1.00
R6345:Bsn	UTSW	9	108107355	missense	unknown
R6368:Bsn	UTSW	9	108111314	unclassified	probably benign
R6574:Bsn	UTSW	9	108113954	missense	possibly damaging	0.95
R6793:Bsn	UTSW	9	108114615	nonsense	probably null
R6802:Bsn	UTSW	9	108110624	unclassified	probably benign
R6943:Bsn	UTSW	9	108107817	missense	unknown
R6999:Bsn	UTSW	9	108113433	missense	probably benign	0.00
R7149:Bsn	UTSW	9	108116321	nonsense	probably null
R7199:Bsn	UTSW	9	108115334	missense	probably damaging	1.00
R7322:Bsn	UTSW	9	108126421	nonsense	probably null
R7349:Bsn	UTSW	9	108110783	missense	unknown
R7372:Bsn	UTSW	9	108110519	missense	unknown
R7373:Bsn	UTSW	9	108113484	missense	probably damaging	1.00
R7413:Bsn	UTSW	9	108139491	missense	possibly damaging	0.61
R7473:Bsn	UTSW	9	108112250	missense	probably damaging	1.00
R7482:Bsn	UTSW	9	108113529	missense	probably damaging	0.98
R7530:Bsn	UTSW	9	108111956	missense	probably damaging	1.00
R7549:Bsn	UTSW	9	108114815	missense	probably benign	0.05
R7570:Bsn	UTSW	9	108113543	missense	probably damaging	1.00
R7635:Bsn	UTSW	9	108110990	missense	unknown
R7696:Bsn	UTSW	9	108114501	missense	probably damaging	1.00
R7757:Bsn	UTSW	9	108114740	missense	possibly damaging	0.90
R7868:Bsn	UTSW	9	108114899	missense	possibly damaging	0.95
R7897:Bsn	UTSW	9	108111866	missense	probably damaging	0.98
R7960:Bsn	UTSW	9	108115548	missense	probably damaging	1.00
R8022:Bsn	UTSW	9	108114404	missense	probably benign	0.01
R8056:Bsn	UTSW	9	108105307	missense
R8158:Bsn	UTSW	9	108110033	missense	unknown
R8161:Bsn	UTSW	9	108139530	missense	probably benign	0.20
R8225:Bsn	UTSW	9	108107106	missense
R8282:Bsn	UTSW	9	108107691	missense	possibly damaging	0.73
R8296:Bsn	UTSW	9	108117379	missense	probably benign	0.00
R8415:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8417:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8426:Bsn	UTSW	9	108126573	missense	probably damaging	1.00
R8437:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8438:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8439:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8440:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8441:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8442:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8513:Bsn	UTSW	9	108114510	missense	possibly damaging	0.65
R8529:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8535:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8546:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8548:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8549:Bsn	UTSW	9	108111452	missense	probably benign	0.00
R8682:Bsn	UTSW	9	108106169	missense
R8773:Bsn	UTSW	9	108110505	missense	unknown
R8883:Bsn	UTSW	9	108113028	missense	probably damaging	0.98
R8906:Bsn	UTSW	9	108107553	missense	unknown
R9018:Bsn	UTSW	9	108117289	missense	probably benign	0.06
R9070:Bsn	UTSW	9	108110096	missense
R9094:Bsn	UTSW	9	108110853	missense	unknown
R9098:Bsn	UTSW	9	108112974	missense	possibly damaging	0.65
R9128:Bsn	UTSW	9	108116150	missense	probably benign	0.21
R9162:Bsn	UTSW	9	108110684	missense	unknown
R9224:Bsn	UTSW	9	108105487	missense
R9230:Bsn	UTSW	9	108112260	missense	probably damaging	1.00
R9233:Bsn	UTSW	9	108117090	missense	probably benign	0.28
R9245:Bsn	UTSW	9	108116093	missense	probably damaging	1.00
R9275:Bsn	UTSW	9	108111620	missense	probably damaging	1.00
R9307:Bsn	UTSW	9	108115794	missense	probably benign	0.01
R9343:Bsn	UTSW	9	108115502	missense	probably damaging	1.00
R9377:Bsn	UTSW	9	108113601	missense	probably damaging	1.00
R9377:Bsn	UTSW	9	108116162	missense	probably damaging	1.00
R9378:Bsn	UTSW	9	108107655	missense	possibly damaging	0.85
R9408:Bsn	UTSW	9	108139453	nonsense	probably null
R9455:Bsn	UTSW	9	108111332	missense	unknown
R9563:Bsn	UTSW	9	108107417	missense
R9615:Bsn	UTSW	9	108107231	missense
R9656:Bsn	UTSW	9	108117208	missense	probably benign	0.09
R9698:Bsn	UTSW	9	108115971	missense	probably damaging	1.00
X0028:Bsn	UTSW	9	108113504	missense	probably damaging	1.00
X0066:Bsn	UTSW	9	108139210	missense	probably damaging	1.00
Z1177:Bsn	UTSW	9	108105499	missense
Z1177:Bsn	UTSW	9	108139195	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCAGTGAAGCCCAGATC -3'
(R):5'- TACAAGTCTGGCAGCGAGTAC -3'

Sequencing Primer
(F):5'- AAGCCCAGATCCCGCGAG -3'
(R):5'- TCTGGCAGCGAGTACAACCTG -3'

Posted On

2014-09-18