Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Snap91'

440980

Institutional Source

Beutler Lab

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, 91kDa, AP180

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86647976-86762707 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 86672206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074066 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000036347

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419

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

probably null
Transcript: ENSMUST00000036347

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419

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

probably null
Transcript: ENSMUST00000074468

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419

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 null
Transcript: ENSMUST00000074468

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419

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

probably benign
Transcript: ENSMUST00000098495

SMART Domains

Protein: ENSMUSP00000096096
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	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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192170

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,308,678 (GRCm39)	D805E	probably damaging	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384 (GRCm39)	V559F	probably damaging	Het
Apba2	A	G	7: 64,365,259 (GRCm39)	T346A	probably benign	Het
Arhgap10	C	T	8: 78,137,684 (GRCm39)	M302I	probably benign	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Cacna1a	A	G	8: 85,189,406 (GRCm39)	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Ccar1	T	C	10: 62,607,757 (GRCm39)	N302S	probably benign	Het
Ccdc93	A	G	1: 121,411,065 (GRCm39)	H446R	probably benign	Het
Cct6b	A	T	11: 82,613,281 (GRCm39)	L420Q	probably benign	Het
Cemip	T	C	7: 83,638,392 (GRCm39)	T273A	probably benign	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cfap221	A	G	1: 119,860,532 (GRCm39)	L698P	probably damaging	Het
Cfap43	T	A	19: 47,784,114 (GRCm39)	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,311,326 (GRCm39)	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,604,138 (GRCm39)	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,546,302 (GRCm39)	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,580,138 (GRCm39)	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dpp8	G	A	9: 64,953,017 (GRCm39)	W231*	probably null	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Fgd6	T	A	10: 93,969,912 (GRCm39)	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,666,409 (GRCm39)	Y875N	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,450,138 (GRCm39)	D52G	probably damaging	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gpam	A	T	19: 55,077,331 (GRCm39)	D153E	probably benign	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,783,517 (GRCm39)	V297D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,680 (GRCm39)	S107T	possibly damaging	Het
Kif12	T	A	4: 63,084,130 (GRCm39)	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,322,939 (GRCm39)	D660G	probably damaging	Het
Klf13	T	C	7: 63,541,308 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lao1	T	A	4: 118,822,433 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lyst	A	T	13: 13,812,081 (GRCm39)	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,820,839 (GRCm39)	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mrgprb5	G	A	7: 47,817,955 (GRCm39)	T260I	probably benign	Het
Mybpc2	T	C	7: 44,156,477 (GRCm39)	T825A	probably benign	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Naalad2	G	T	9: 18,246,227 (GRCm39)	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,167,916 (GRCm39)	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,257,993 (GRCm39)	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or5ae1	C	A	7: 84,565,327 (GRCm39)	F113L	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or5p58	A	T	7: 107,694,011 (GRCm39)	Y255*	probably null	Het
Or5p60	A	G	7: 107,723,858 (GRCm39)	F204S	probably benign	Het
Or6c2	A	T	10: 129,362,972 (GRCm39)	N292I	probably damaging	Het
Or6c76b	T	A	10: 129,693,296 (GRCm39)	V303E	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,028,619 (GRCm39)	S175P	probably benign	Het
Pgbd1	A	G	13: 21,607,322 (GRCm39)	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Pramel16	C	T	4: 143,675,374 (GRCm39)	G484D	probably benign	Het
Prkcd	C	A	14: 30,329,370 (GRCm39)	K23N	probably benign	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rad54l	C	T	4: 115,956,144 (GRCm39)	S561N	probably benign	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Rtl1	C	T	12: 109,558,013 (GRCm39)	M1275I	probably benign	Het
Ryr2	C	A	13: 11,610,468 (GRCm39)	E4119D	probably damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562 (GRCm39)	T8S	probably benign	Het
Slc22a30	T	C	19: 8,381,980 (GRCm39)	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Srsf10	T	C	4: 135,591,131 (GRCm39)	S194P	possibly damaging	Het
St14	T	C	9: 31,017,806 (GRCm39)	M205V	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,182,435 (GRCm39)	D163V	probably benign	Het
Trim15	T	C	17: 37,177,713 (GRCm39)	E94G	probably damaging	Het
Trit1	T	C	4: 122,942,965 (GRCm39)	I279T	probably damaging	Het
Trpm8	T	A	1: 88,287,461 (GRCm39)	F815I	possibly damaging	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,574,204 (GRCm39)	D446E	probably benign	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,403,194 (GRCm39)	L550P	probably damaging	Het

Other mutations in Snap91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Snap91	APN	9	86,703,790 (GRCm39)	missense	probably benign	0.01
IGL01147:Snap91	APN	9	86,680,611 (GRCm39)	missense	probably benign	0.37
IGL01358:Snap91	APN	9	86,688,613 (GRCm39)	missense	probably damaging	1.00
IGL01501:Snap91	APN	9	86,720,178 (GRCm39)	missense	probably damaging	0.99
IGL01883:Snap91	APN	9	86,657,665 (GRCm39)	missense	probably damaging	1.00
IGL02632:Snap91	APN	9	86,721,575 (GRCm39)	missense	possibly damaging	0.94
IGL02864:Snap91	APN	9	86,720,141 (GRCm39)	missense	possibly damaging	0.95
IGL03276:Snap91	APN	9	86,707,065 (GRCm39)	missense	possibly damaging	0.78
PIT4514001:Snap91	UTSW	9	86,761,486 (GRCm39)	missense	possibly damaging	0.86
R1564:Snap91	UTSW	9	86,674,249 (GRCm39)	missense	possibly damaging	0.85
R1804:Snap91	UTSW	9	86,665,470 (GRCm39)	missense	probably benign	0.01
R1840:Snap91	UTSW	9	86,697,518 (GRCm39)	missense	probably damaging	1.00
R1869:Snap91	UTSW	9	86,672,194 (GRCm39)	critical splice acceptor site	probably null
R2156:Snap91	UTSW	9	86,707,130 (GRCm39)	missense	probably damaging	1.00
R2221:Snap91	UTSW	9	86,674,580 (GRCm39)	missense	possibly damaging	0.53
R2223:Snap91	UTSW	9	86,674,580 (GRCm39)	missense	possibly damaging	0.53
R2233:Snap91	UTSW	9	86,680,624 (GRCm39)	missense	probably benign	0.23
R2680:Snap91	UTSW	9	86,761,603 (GRCm39)	start codon destroyed	probably null	1.00
R3077:Snap91	UTSW	9	86,720,907 (GRCm39)	missense	possibly damaging	0.95
R3702:Snap91	UTSW	9	86,688,573 (GRCm39)	missense	probably damaging	0.99
R3840:Snap91	UTSW	9	86,721,618 (GRCm39)	missense	probably damaging	1.00
R3912:Snap91	UTSW	9	86,674,610 (GRCm39)	missense	possibly damaging	0.53
R3913:Snap91	UTSW	9	86,674,610 (GRCm39)	missense	possibly damaging	0.53
R3958:Snap91	UTSW	9	86,720,183 (GRCm39)	missense	probably damaging	1.00
R3963:Snap91	UTSW	9	86,657,665 (GRCm39)	missense	probably damaging	1.00
R4043:Snap91	UTSW	9	86,659,102 (GRCm39)	missense	probably damaging	1.00
R4133:Snap91	UTSW	9	86,659,102 (GRCm39)	missense	probably damaging	1.00
R4641:Snap91	UTSW	9	86,761,528 (GRCm39)	missense	probably damaging	1.00
R4674:Snap91	UTSW	9	86,674,070 (GRCm39)	missense	possibly damaging	0.73
R4770:Snap91	UTSW	9	86,655,654 (GRCm39)	missense	possibly damaging	0.86
R4798:Snap91	UTSW	9	86,665,507 (GRCm39)	intron	probably benign
R4849:Snap91	UTSW	9	86,674,613 (GRCm39)	missense	possibly damaging	0.53
R4991:Snap91	UTSW	9	86,672,207 (GRCm39)	splice site	probably null
R5200:Snap91	UTSW	9	86,697,497 (GRCm39)	missense	probably damaging	1.00
R5354:Snap91	UTSW	9	86,717,177 (GRCm39)	missense	possibly damaging	0.84
R6029:Snap91	UTSW	9	86,707,133 (GRCm39)	splice site	probably null
R6091:Snap91	UTSW	9	86,721,681 (GRCm39)	missense	probably damaging	1.00
R6175:Snap91	UTSW	9	86,707,053 (GRCm39)	missense	probably damaging	1.00
R6191:Snap91	UTSW	9	86,720,105 (GRCm39)	missense	probably damaging	1.00
R6611:Snap91	UTSW	9	86,672,180 (GRCm39)	missense	probably benign	0.33
R6764:Snap91	UTSW	9	86,674,234 (GRCm39)	missense	probably benign	0.33
R6881:Snap91	UTSW	9	86,655,646 (GRCm39)	missense	possibly damaging	0.73
R7201:Snap91	UTSW	9	86,672,199 (GRCm39)	splice site	probably null
R7223:Snap91	UTSW	9	86,761,610 (GRCm39)	start gained	probably benign
R7247:Snap91	UTSW	9	86,674,669 (GRCm39)	missense	unknown
R7327:Snap91	UTSW	9	86,655,598 (GRCm39)	missense	unknown
R7520:Snap91	UTSW	9	86,721,702 (GRCm39)	missense	probably damaging	1.00
R7572:Snap91	UTSW	9	86,688,547 (GRCm39)	missense	possibly damaging	0.58
R7616:Snap91	UTSW	9	86,721,674 (GRCm39)	missense	probably damaging	1.00
R7690:Snap91	UTSW	9	86,707,031 (GRCm39)	missense	possibly damaging	0.95
R7750:Snap91	UTSW	9	86,680,762 (GRCm39)	splice site	probably null
R8747:Snap91	UTSW	9	86,686,577 (GRCm39)	missense	probably damaging	0.99
R8918:Snap91	UTSW	9	86,651,611 (GRCm39)	missense	unknown
R9171:Snap91	UTSW	9	86,680,672 (GRCm39)	missense	probably benign	0.03
R9512:Snap91	UTSW	9	86,665,392 (GRCm39)	missense	unknown
R9764:Snap91	UTSW	9	86,707,094 (GRCm39)	missense	possibly damaging	0.60
X0027:Snap91	UTSW	9	86,680,881 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGTGGCTTATATACATACGG -3'
(R):5'- AACAGGAGCTGAATGTTAAGACTC -3'

Sequencing Primer
(F):5'- GTGGCTTATATACATACGGGTTTAAG -3'
(R):5'- GGAGCTGAATGTTAAGACTCTTATC -3'

Posted On

2016-11-08