Mutagenetix > Incidental Mutations

Incidental Mutation 'R2233:Snap91'

240186

Institutional Source

Beutler Lab

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, AP180, 91kDa

MMRRC Submission

040234-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R2233 (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 86798571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 427 (T427A)

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: T427A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: T427A

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: T427A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: T427A

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
AA Change: T420A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: T420A

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tmem135	T	C	7: 89,154,074	N297S	probably damaging	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	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
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
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
X0027:Snap91	UTSW	9	86798828	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTGCCAGAACTACACGGAG -3'
(R):5'- AGGAGTCTGGTCTATCTCCTG -3'

Sequencing Primer
(F):5'- AGCTGACGAGTTTAGTACTGTCAAGC -3'
(R):5'- GAGTCTGGTCTATCTCCTGTCCTTTC -3'

Posted On

2014-10-15