Mutagenetix > Incidental Mutations

Incidental Mutation 'R1564:Snap91'

175126

Institutional Source

Beutler Lab

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, AP180, 91kDa

MMRRC Submission

039603-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R1564 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86765923-86880654 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86792196 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 579 (D579G)

Ref Sequence

ENSEMBL: ENSMUSP00000074066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036347] [ENSMUST00000074468] [ENSMUST00000074501] [ENSMUST00000098495]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036347
AA Change: D579G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: D579G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000074468
AA Change: D579G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: D579G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000074501

SMART Domains

Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000098495
AA Change: D572G

SMART Domains

Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: D572G

Domain	Start	End	E-Value	Type
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: ENSMUST00000189004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190388

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.0%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530099J19Rik	T	C	13: 19,729,300		noncoding transcript	Het
Abca13	C	T	11: 9,434,316	Q3923*	probably null	Het
Abcc12	T	A	8: 86,517,486	T1013S	probably benign	Het
Acad9	T	C	3: 36,089,429	I558T	possibly damaging	Het
Agbl4	C	A	4: 110,955,564		probably null	Het
Akr1b3	C	T	6: 34,306,535		probably null	Het
Aktip	A	G	8: 91,131,081	M1T	probably null	Het
Apc	G	T	18: 34,315,149	Q1665H	probably benign	Het
Arfgef3	T	C	10: 18,591,704	D1916G	probably damaging	Het
Arhgef11	T	C	3: 87,702,510	V365A	probably benign	Het
Bank1	C	A	3: 136,213,841	E265*	probably null	Het
Bbs7	A	T	3: 36,575,795	D578E	probably damaging	Het
Bin3	T	C	14: 70,134,769	F172L	probably damaging	Het
Bves	A	G	10: 45,369,281	D350G	probably benign	Het
Cacna1h	A	T	17: 25,377,861	C80*	probably null	Het
Cacna2d4	T	C	6: 119,241,195	F164L	possibly damaging	Het
Cenpj	T	C	14: 56,552,066	D842G	probably benign	Het
Col12a1	C	A	9: 79,613,840	R2781L	probably damaging	Het
Cyp2c68	A	T	19: 39,735,580	C213*	probably null	Het
Defb33	T	A	8: 20,897,581	C45S	possibly damaging	Het
Dolk	A	T	2: 30,285,621	N137K	probably damaging	Het
Fam171b	G	A	2: 83,880,284	E767K	probably damaging	Het
Fbxl20	A	T	11: 98,098,486	D189E	probably damaging	Het
Gm10643	A	T	8: 84,064,482	M1K	probably null	Het
Gm572	T	G	4: 148,651,186	I24S	possibly damaging	Het
Gnpda1	A	G	18: 38,338,089		probably null	Het
Helz2	G	T	2: 181,233,228	N1824K	probably benign	Het
Insl3	G	T	8: 71,690,291	A99S	possibly damaging	Het
Lpin2	G	A	17: 71,225,060	V137I	probably benign	Het
Lrrc9	A	G	12: 72,487,053	E1032G	probably damaging	Het
Macf1	T	C	4: 123,459,357	T1510A	probably benign	Het
Mnd1	T	C	3: 84,116,431	E116G	probably benign	Het
Mycbp2	A	G	14: 103,169,851		probably null	Het
Myoz3	G	A	18: 60,580,842	S23L	probably benign	Het
Napsa	G	T	7: 44,586,649	V371F	probably damaging	Het
Nefh	T	C	11: 4,939,878	T914A	unknown	Het
Neurod2	A	T	11: 98,327,424	C305S	probably damaging	Het
Nmnat3	T	C	9: 98,354,166		probably null	Het
Nuf2	A	G	1: 169,498,793	V463A	unknown	Het
Olfml1	A	T	7: 107,571,139	T78S	possibly damaging	Het
Olfr1199	A	T	2: 88,756,656	N6K	possibly damaging	Het
Olfr1228	G	T	2: 89,249,672	N7K	probably benign	Het
Olfr61	G	A	7: 140,638,054	V118I	probably benign	Het
Olfr800	T	C	10: 129,660,015	F70L	probably benign	Het
Opcml	G	A	9: 28,903,316	C288Y	probably damaging	Het
Oprl1	T	C	2: 181,718,940	I222T	possibly damaging	Het
Pcsk5	A	G	19: 17,654,756	Y349H	probably damaging	Het
Pla2g4d	C	A	2: 120,268,903	R706L	possibly damaging	Het
Pmm1	A	G	15: 81,956,200	Y55H	probably damaging	Het
Polb	A	G	8: 22,630,341		probably null	Het
Pom121l2	T	C	13: 21,983,353	I598T	possibly damaging	Het
Pxmp2	C	T	5: 110,281,196		probably null	Het
Rbm39	G	T	2: 156,154,257	L403I	probably benign	Het
Rec8	T	C	14: 55,622,275		probably null	Het
Reck	T	C	4: 43,912,061	I190T	probably benign	Het
Rer1	A	T	4: 155,075,593	I166N	probably damaging	Het
Rgs17	T	A	10: 5,842,567	K60*	probably null	Het
Ripor2	C	T	13: 24,675,785	T152M	probably damaging	Het
Scgb1b2	A	T	7: 31,291,775		probably benign	Het
Scn3a	C	A	2: 65,514,635	R503M	probably damaging	Het
Scn4a	C	A	11: 106,345,541	D298Y	probably benign	Het
Scn9a	A	G	2: 66,484,304	F1679S	probably damaging	Het
Scyl3	G	T	1: 163,939,984		probably null	Het
Sec23ip	A	G	7: 128,766,281		probably null	Het
She	C	T	3: 89,849,614	A325V	possibly damaging	Het
Skint2	T	G	4: 112,625,998	M200R	probably damaging	Het
Slc17a5	A	T	9: 78,578,699	C35S	probably damaging	Het
Slc25a24	T	A	3: 109,163,503	S393T	probably damaging	Het
Slc6a19	C	T	13: 73,686,124	V320M	probably damaging	Het
Spats2l	C	T	1: 57,946,224	R479C	probably damaging	Het
Syngr3	G	C	17: 24,686,668		probably null	Het
Tas2r107	A	C	6: 131,659,822	I88R	probably damaging	Het
Them7	A	T	2: 105,297,914	N80I	probably damaging	Het
Tmprss7	C	T	16: 45,662,153		probably null	Het
Tnrc6b	A	G	15: 80,880,168	N624D	possibly damaging	Het
Trpm2	T	G	10: 77,942,999	I378L	probably benign	Het
Ttn	C	A	2: 76,724,532	W30676L	probably damaging	Het
Ttn	A	G	2: 76,944,040	V2220A	unknown	Het
Uba6	T	C	5: 86,154,407	T134A	probably benign	Het
Vmn2r55	A	G	7: 12,684,751	S81P	probably damaging	Het
Zfp616	T	A	11: 74,084,722	S606T	probably damaging	Het
Zfp653	C	A	9: 22,055,859	A577S	probably damaging	Het

Other mutations in Snap91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Snap91	APN	9	86821737	missense	probably benign	0.01
IGL01147:Snap91	APN	9	86798558	missense	probably benign	0.37
IGL01358:Snap91	APN	9	86806560	missense	probably damaging	1.00
IGL01501:Snap91	APN	9	86838125	missense	probably damaging	0.99
IGL01883:Snap91	APN	9	86775612	missense	probably damaging	1.00
IGL02632:Snap91	APN	9	86839522	missense	possibly damaging	0.94
IGL02864:Snap91	APN	9	86838088	missense	possibly damaging	0.95
IGL03276:Snap91	APN	9	86825012	missense	possibly damaging	0.78
PIT4514001:Snap91	UTSW	9	86879433	missense	possibly damaging	0.86
R1804:Snap91	UTSW	9	86783417	missense	probably benign	0.01
R1840:Snap91	UTSW	9	86815465	missense	probably damaging	1.00
R1869:Snap91	UTSW	9	86790141	critical splice acceptor site	probably null
R2156:Snap91	UTSW	9	86825077	missense	probably damaging	1.00
R2221:Snap91	UTSW	9	86792527	missense	possibly damaging	0.53
R2223:Snap91	UTSW	9	86792527	missense	possibly damaging	0.53
R2233:Snap91	UTSW	9	86798571	missense	probably benign	0.23
R2680:Snap91	UTSW	9	86879550	start codon destroyed	probably null	1.00
R3077:Snap91	UTSW	9	86838854	missense	possibly damaging	0.95
R3702:Snap91	UTSW	9	86806520	missense	probably damaging	0.99
R3840:Snap91	UTSW	9	86839565	missense	probably damaging	1.00
R3912:Snap91	UTSW	9	86792557	missense	possibly damaging	0.53
R3913:Snap91	UTSW	9	86792557	missense	possibly damaging	0.53
R3958:Snap91	UTSW	9	86838130	missense	probably damaging	1.00
R3963:Snap91	UTSW	9	86775612	missense	probably damaging	1.00
R4043:Snap91	UTSW	9	86777049	missense	probably damaging	1.00
R4133:Snap91	UTSW	9	86777049	missense	probably damaging	1.00
R4641:Snap91	UTSW	9	86879475	missense	probably damaging	1.00
R4674:Snap91	UTSW	9	86792017	missense	possibly damaging	0.73
R4770:Snap91	UTSW	9	86773601	missense	possibly damaging	0.86
R4798:Snap91	UTSW	9	86783454	intron	probably benign
R4849:Snap91	UTSW	9	86792560	missense	possibly damaging	0.53
R4991:Snap91	UTSW	9	86790154	splice site	probably null
R5200:Snap91	UTSW	9	86815444	missense	probably damaging	1.00
R5354:Snap91	UTSW	9	86835124	missense	possibly damaging	0.84
R5644:Snap91	UTSW	9	86790153	splice site	probably null
R6029:Snap91	UTSW	9	86825080	splice site	probably null
R6091:Snap91	UTSW	9	86839628	missense	probably damaging	1.00
R6175:Snap91	UTSW	9	86825000	missense	probably damaging	1.00
R6191:Snap91	UTSW	9	86838052	missense	probably damaging	1.00
R6611:Snap91	UTSW	9	86790127	missense	probably benign	0.33
R6764:Snap91	UTSW	9	86792181	missense	probably benign	0.33
R6881:Snap91	UTSW	9	86773593	missense	possibly damaging	0.73
R7201:Snap91	UTSW	9	86790146	splice site	probably null
R7223:Snap91	UTSW	9	86879557	start gained	probably benign
R7247:Snap91	UTSW	9	86792616	missense	unknown
R7327:Snap91	UTSW	9	86773545	missense	unknown
R7520:Snap91	UTSW	9	86839649	missense	probably damaging	1.00
R7572:Snap91	UTSW	9	86806494	missense	possibly damaging	0.58
R7616:Snap91	UTSW	9	86839621	missense	probably damaging	1.00
R7690:Snap91	UTSW	9	86824978	missense	possibly damaging	0.95
R7750:Snap91	UTSW	9	86798709	splice site	probably null
R8747:Snap91	UTSW	9	86804524	missense	probably damaging	0.99
X0027:Snap91	UTSW	9	86798828	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACTCACCAGATAAGAGGTCAGC -3'
(R):5'- TGAACCTGGTCCTGTAATGCACAC -3'

Sequencing Primer
(F):5'- GAGAGAACTCTCAGGCACCG -3'
(R):5'- GTCCTGTAATGCACACATGCC -3'

Posted On

2014-04-24