Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03276:Snap91'

415410

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 #

IGL03276

Quality Score

Status

Chromosome

Chromosomal Location

86647976-86762707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86707065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 242 (T242A)

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

possibly damaging
Transcript: ENSMUST00000036347
AA Change: T242A

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: T242A

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: T242A

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: T242A

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: T242A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: T242A

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: T242A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: T242A

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef25	A	C	10: 127,021,794 (GRCm39)	F202V	possibly damaging	Het
Atrnl1	A	T	19: 57,641,359 (GRCm39)	N336Y	probably damaging	Het
Bicc1	T	C	10: 70,789,268 (GRCm39)	D381G	possibly damaging	Het
Cabin1	A	T	10: 75,568,247 (GRCm39)	L912Q	probably damaging	Het
Fam83e	A	G	7: 45,372,884 (GRCm39)	D165G	possibly damaging	Het
Foxn1	T	A	11: 78,261,950 (GRCm39)	T140S	probably benign	Het
Ggt1	A	G	10: 75,416,331 (GRCm39)		probably benign	Het
Kctd8	A	T	5: 69,497,929 (GRCm39)	M239K	possibly damaging	Het
Kdm4d	A	T	9: 14,375,838 (GRCm39)	C7S	probably benign	Het
Kdm5a	T	A	6: 120,379,669 (GRCm39)		probably benign	Het
Klrb1b	T	C	6: 128,792,168 (GRCm39)	N191S	probably benign	Het
Krt35	C	T	11: 99,983,953 (GRCm39)	S349N	probably benign	Het
Krt75	A	T	15: 101,476,811 (GRCm39)	D359E	probably damaging	Het
Lipo5	T	C	19: 33,445,242 (GRCm39)	D109G	unknown	Het
Lsm12	T	G	11: 102,073,770 (GRCm39)	I58L	probably benign	Het
Mxd4	T	C	5: 34,335,088 (GRCm39)	D99G	probably benign	Het
Nlrp4a	T	A	7: 26,163,615 (GRCm39)	N927K	probably damaging	Het
Olfm2	A	G	9: 20,580,083 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,457,980 (GRCm39)	V4103A	possibly damaging	Het
Slc30a9	T	C	5: 67,507,260 (GRCm39)		probably benign	Het
Srp19	A	C	18: 34,464,843 (GRCm39)	T28P	probably damaging	Het
Tenm2	C	T	11: 35,963,603 (GRCm39)	V943I	possibly damaging	Het
Tgfb3	T	C	12: 86,104,642 (GRCm39)	E384G	probably damaging	Het
Tmem39a	T	A	16: 38,405,646 (GRCm39)	N74K	probably benign	Het
Tnfrsf11a	A	G	1: 105,749,215 (GRCm39)	Y211C	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
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

2016-08-02