Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01501:Snap91'

88919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, 91kDa, AP180

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

IGL01501

Quality Score

Status

Chromosome

Chromosomal Location

86647976-86762707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86720178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 120 (M120V)

Ref Sequence

ENSEMBL: ENSMUSP00000074066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036347] [ENSMUST00000074468] [ENSMUST00000074501] [ENSMUST00000098495] [ENSMUST00000191290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036347
AA Change: M120V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: M120V

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 damaging
Transcript: ENSMUST00000074468
AA Change: M120V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: M120V

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

possibly damaging
Transcript: ENSMUST00000074501
AA Change: M120V

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: M120V

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 damaging
Transcript: ENSMUST00000098495
AA Change: M120V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: M120V

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

probably damaging
Transcript: ENSMUST00000191290
AA Change: M120V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419
AA Change: M120V

Domain	Start	End	E-Value	Type
ENTH	20	145	5.2e-50	SMART

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 25,404,369 (GRCm39)	N212I	probably damaging	Het
Adgre4	T	G	17: 56,109,002 (GRCm39)		probably benign	Het
Amer3	G	A	1: 34,627,398 (GRCm39)	V546M	probably benign	Het
Arfgef3	A	G	10: 18,476,308 (GRCm39)	S1504P	possibly damaging	Het
D630003M21Rik	G	A	2: 158,042,987 (GRCm39)	A851V	probably benign	Het
Ddhd2	A	T	8: 26,225,857 (GRCm39)	M500K	probably damaging	Het
Fig4	A	G	10: 41,146,370 (GRCm39)	S191P	probably benign	Het
Gabrg3	T	C	7: 56,374,214 (GRCm39)	T451A	probably damaging	Het
Gzme	T	A	14: 56,356,858 (GRCm39)	M35L	probably damaging	Het
Il6st	A	G	13: 112,616,593 (GRCm39)	I47V	probably benign	Het
Klk1b11	A	T	7: 43,649,258 (GRCm39)		probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Or4f14b	A	G	2: 111,774,863 (GRCm39)	*313Q	probably null	Het
Or5i1	T	A	2: 87,613,480 (GRCm39)	W199R	possibly damaging	Het
Ptprz1	A	T	6: 22,973,081 (GRCm39)	N283I	probably damaging	Het
Slc25a33	T	C	4: 149,840,615 (GRCm39)		probably benign	Het
Tbc1d8	G	A	1: 39,428,416 (GRCm39)	R510C	probably damaging	Het
Thoc1	T	C	18: 9,986,321 (GRCm39)	L351P	possibly damaging	Het
Tmco5b	A	G	2: 113,121,726 (GRCm39)	K180R	probably null	Het
Zfp553	G	T	7: 126,835,387 (GRCm39)	S314I	probably damaging	Het
Zgrf1	G	A	3: 127,396,211 (GRCm39)		probably null	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
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
R5644:Snap91	UTSW	9	86,672,206 (GRCm39)	splice site	probably null
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

Posted On

2013-12-03