Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Snap91'

574652

Institutional Source

Beutler Lab

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, 91kDa, AP180

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86647976-86762707 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 86672199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	possibly 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
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
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

2019-09-27