Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00985:Snap91'

306665

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, AP180, 91kDa

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.830) question?

Stock #

IGL00985

Quality Score

Status

Chromosome

Chromosomal Location

86765923-86880654 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86821737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 268 (T268A)

Ref Sequence

ENSEMBL: ENSMUSP00000074066 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036347
AA Change: T268A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: T268A

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 benign
Transcript: ENSMUST00000074468
AA Change: T268A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: T268A

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
AA Change: T268A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: T268A

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
AA Change: T268A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: T268A

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: ENSMUST00000167014

SMART Domains

Protein: ENSMUSP00000128738
Gene: ENSMUSG00000033419

Domain	Start	End	E-Value	Type
ENTH	20	145	8.41e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189762

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630091E08Rik	G	T	7: 98,543,918		noncoding transcript	Het
Abca15	G	A	7: 120,397,018	G1389E	probably damaging	Het
Adcy3	T	C	12: 4,134,600	V92A	probably damaging	Het
Aplnr	A	T	2: 85,137,663	Y344F	probably benign	Het
Atm	A	T	9: 53,459,816	V2241E	probably damaging	Het
Cep290	T	C	10: 100,567,161		probably benign	Het
Cnpy1	A	T	5: 28,209,154	Y91*	probably null	Het
Cobl	C	A	11: 12,254,843	G613W	probably damaging	Het
Csn1s2a	T	C	5: 87,784,580	S121P	possibly damaging	Het
Doxl2	A	G	6: 48,977,547	S540G	probably benign	Het
Fam129c	T	C	8: 71,604,863		probably benign	Het
Fam198a	T	C	9: 121,978,335	L515P	probably damaging	Het
Flg2	A	T	3: 93,203,278	Y871F	unknown	Het
Gapvd1	T	A	2: 34,695,563	D1008V	probably damaging	Het
Igfl3	T	C	7: 18,180,075		probably null	Het
Kmt2b	A	T	7: 30,579,927	V1470E	probably damaging	Het
Mcc	A	T	18: 44,491,239	L413Q	probably damaging	Het
Mia2	G	A	12: 59,188,360	G610D	probably damaging	Het
Mlst8	A	T	17: 24,477,313	D147E	probably damaging	Het
Muc19	G	T	15: 91,886,749		noncoding transcript	Het
Mybpc3	A	G	2: 91,135,359	E1172G	probably benign	Het
Nop14	A	T	5: 34,644,789	L557Q	probably damaging	Het
P3h3	T	C	6: 124,845,589	T540A	probably benign	Het
Phc3	T	A	3: 30,914,197	I897F	probably benign	Het
Plekhh2	G	A	17: 84,563,928	V205I	probably benign	Het
Poc5	A	G	13: 96,410,746	K506E	probably damaging	Het
Pum1	C	A	4: 130,743,789	T450K	probably damaging	Het
Retnlg	G	A	16: 48,874,325	R112H	possibly damaging	Het
Rgl2	T	C	17: 33,932,101	V101A	probably damaging	Het
Serinc5	A	G	13: 92,706,271	T410A	probably damaging	Het
Shroom1	T	C	11: 53,465,969	V553A	probably benign	Het
Slco4c1	A	T	1: 96,841,187	W317R	probably damaging	Het
Supt16	T	C	14: 52,161,691	K1044E	possibly damaging	Het
Tarbp1	A	T	8: 126,459,161	L431I	probably damaging	Het
Tas2r124	C	T	6: 132,755,529	T267I	probably benign	Het
Tm7sf3	C	T	6: 146,606,194	V457I	possibly damaging	Het
Tmem132c	A	T	5: 127,504,866	S382C	probably damaging	Het
Tmprss7	C	A	16: 45,662,322	C582F	probably damaging	Het
Tsc2	T	C	17: 24,597,131	E1694G	probably damaging	Het
Txndc2	G	T	17: 65,638,549	S211Y	possibly damaging	Het
Ubr3	A	C	2: 70,003,431	T205P	probably damaging	Het
Vmn2r116	G	A	17: 23,401,515	G741D	probably damaging	Het
Vps8	G	A	16: 21,477,584		probably benign	Het
Wdr19	G	A	5: 65,252,299	D1127N	probably benign	Het
Zim1	T	A	7: 6,682,760	Y83F	possibly damaging	Het

Other mutations in Snap91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1564:Snap91	UTSW	9	86792196	missense	possibly damaging	0.85
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
R8918:Snap91	UTSW	9	86769558	missense	unknown
R9171:Snap91	UTSW	9	86798619	missense	probably benign	0.03
R9512:Snap91	UTSW	9	86783339	missense	unknown
R9764:Snap91	UTSW	9	86825041	missense	possibly damaging	0.60
X0027:Snap91	UTSW	9	86798828	critical splice donor site	probably null

Posted On

2015-04-16