Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Snap91'

561946

Institutional Source

Beutler Lab

Gene Symbol

Snap91

Ensembl Gene

ENSMUSG00000033419

Gene Name

synaptosomal-associated protein 91

Synonyms

F1-20, AP180, 91kDa

MMRRC Submission

045295-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86765923-86880654 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 86879557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141065 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000191290

SMART Domains

Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,274,143 (GRCm38)	V733E	probably benign	Het
Adam34	A	T	8: 43,652,004 (GRCm38)	N201K	probably benign	Het
Aldh3b2	A	C	19: 3,979,592 (GRCm38)	S322R	probably damaging	Het
Anpep	A	T	7: 79,825,310 (GRCm38)	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,407,571 (GRCm38)	F535S	probably damaging	Het
Baiap3	G	A	17: 25,243,840 (GRCm38)	R1075C	probably benign	Het
Baz2a	G	T	10: 128,112,606 (GRCm38)	G252V	probably damaging	Het
Brinp3	T	A	1: 146,901,074 (GRCm38)	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,496,238 (GRCm38)	F359S	possibly damaging	Het
Ccdc124	A	T	8: 70,868,526 (GRCm38)	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,256,140 (GRCm38)	V59A	probably damaging	Het
Ccr8	T	A	9: 120,094,617 (GRCm38)	I266N	probably damaging	Het
Cdh23	T	A	10: 60,331,817 (GRCm38)	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,235,447 (GRCm38)	N1713S	probably benign	Het
Cep19	T	A	16: 32,104,015 (GRCm38)	I33N	probably damaging	Het
Cers3	A	T	7: 66,783,415 (GRCm38)	Y196F	probably damaging	Het
Cidea	T	C	18: 67,366,421 (GRCm38)	I126T	probably damaging	Het
Copg2	A	T	6: 30,812,754 (GRCm38)	Y546*	probably null	Het
Cul3	A	T	1: 80,287,000 (GRCm38)	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,814,632 (GRCm38)	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,915,097 (GRCm38)	H390Y	probably damaging	Het
Daam1	T	C	12: 71,988,943 (GRCm38)	F971L	probably damaging	Het
Dnajc24	G	A	2: 106,001,966 (GRCm38)	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,438,042 (GRCm38)	S56G	probably benign	Het
Esp1	A	G	17: 40,731,081 (GRCm38)	D88G	probably benign	Het
Fam171b	A	G	2: 83,878,230 (GRCm38)	T359A	probably damaging	Het
Fam186b	T	C	15: 99,279,837 (GRCm38)	E536G	possibly damaging	Het
Fbxo3	T	C	2: 104,043,012 (GRCm38)	V156A	possibly damaging	Het
Gls2	C	A	10: 128,199,194 (GRCm38)	H65Q	probably benign	Het
Gp2	A	G	7: 119,451,498 (GRCm38)		probably null	Het
Gpcpd1	T	A	2: 132,534,056 (GRCm38)	K435I	probably benign	Het
Gpx6	T	A	13: 21,317,670 (GRCm38)		probably null	Het
Hps3	A	T	3: 20,030,419 (GRCm38)	S202T	probably benign	Het
Htr1d	T	A	4: 136,443,501 (GRCm38)	L347H	probably damaging	Het
Igfals	T	C	17: 24,881,234 (GRCm38)	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,583,696 (GRCm38)	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,628,972 (GRCm38)	M1530K	probably damaging	Het
Jarid2	A	G	13: 44,896,322 (GRCm38)	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,074,009 (GRCm38)	V323I	possibly damaging	Het
Lama3	C	T	18: 12,582,608 (GRCm38)	T1707I	possibly damaging	Het
Map6	G	T	7: 99,268,025 (GRCm38)	A2S	probably damaging	Het
Mfap3	T	A	11: 57,530,240 (GRCm38)	I349K	probably benign	Het
Mybl2	A	G	2: 163,072,705 (GRCm38)	T248A	probably benign	Het
N6amt1	A	G	16: 87,362,660 (GRCm38)	*151W	probably null	Het
Nhlrc1	A	G	13: 47,014,208 (GRCm38)	V191A	probably benign	Het
Nkx2-5	T	C	17: 26,839,620 (GRCm38)	E120G	possibly damaging	Het
Or2y10	T	A	11: 49,564,098 (GRCm38)	M59K	probably damaging	Het
Or52r1b	C	A	7: 103,041,632 (GRCm38)	T46N	possibly damaging	Het
Or8b41	T	C	9: 38,143,753 (GRCm38)	V201A	probably benign	Het
Or8k28	T	A	2: 86,455,867 (GRCm38)	I135F	possibly damaging	Het
Pcdha8	T	G	18: 36,993,148 (GRCm38)	L228V	probably benign	Het
Pcsk2	A	G	2: 143,690,333 (GRCm38)	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,624,653 (GRCm38)	R484Q	probably benign	Het
Pipox	A	G	11: 77,881,186 (GRCm38)	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,873,343 (GRCm38)	S159P		Het
Psme4	C	T	11: 30,874,226 (GRCm38)	P1737S	probably benign	Het
Pygm	G	A	19: 6,388,863 (GRCm38)	D328N	probably benign	Het
Rabgef1	A	T	5: 130,190,960 (GRCm38)	E88V	probably benign	Het
Rims2	G	T	15: 39,437,032 (GRCm38)	R245L	probably benign	Het
Slc38a4	T	C	15: 97,010,345 (GRCm38)	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,268,665 (GRCm38)	Y586N	probably damaging	Het
Sorcs1	C	T	19: 50,190,042 (GRCm38)	V881I	probably benign	Het
Spef2	A	T	15: 9,601,640 (GRCm38)	V1512E	unknown	Het
Sufu	T	C	19: 46,453,277 (GRCm38)	I292T	possibly damaging	Het
Tet1	T	C	10: 62,813,671 (GRCm38)	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,499,534 (GRCm38)	T239A	not run	Het
Tmem121	A	T	12: 113,188,494 (GRCm38)	K111*	probably null	Het
Tpp2	T	A	1: 43,968,888 (GRCm38)	D417E	probably damaging	Het
Tpr	G	A	1: 150,439,256 (GRCm38)	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,275,152 (GRCm38)	A145V	possibly damaging	Het
Ttn	T	C	2: 76,890,981 (GRCm38)	D6754G	probably null	Het
Unc13c	T	A	9: 73,629,191 (GRCm38)	M1627L	probably benign	Het
Ush2a	A	G	1: 188,810,217 (GRCm38)	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,846,967 (GRCm38)	Q65*	probably null	Het
Wdr18	G	A	10: 79,960,368 (GRCm38)	R69H	probably damaging	Het
Zbed5	G	T	5: 129,900,438 (GRCm38)	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,637,582 (GRCm38)	Y366*	probably null	Het
Zfyve26	T	C	12: 79,246,171 (GRCm38)	N2068S	probably damaging	Het
Zic2	T	C	14: 122,476,091 (GRCm38)	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,710,162 (GRCm38)	Q141R	probably benign	Het
Zrsr2-ps1	A	G	11: 22,973,388 (GRCm38)	E54G	probably benign	Het
Zscan10	G	A	17: 23,609,482 (GRCm38)	D333N	probably benign	Het

Other mutations in Snap91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Snap91	APN	9	86,821,737 (GRCm38)	missense	probably benign	0.01
IGL01147:Snap91	APN	9	86,798,558 (GRCm38)	missense	probably benign	0.37
IGL01358:Snap91	APN	9	86,806,560 (GRCm38)	missense	probably damaging	1.00
IGL01501:Snap91	APN	9	86,838,125 (GRCm38)	missense	probably damaging	0.99
IGL01883:Snap91	APN	9	86,775,612 (GRCm38)	missense	probably damaging	1.00
IGL02632:Snap91	APN	9	86,839,522 (GRCm38)	missense	possibly damaging	0.94
IGL02864:Snap91	APN	9	86,838,088 (GRCm38)	missense	possibly damaging	0.95
IGL03276:Snap91	APN	9	86,825,012 (GRCm38)	missense	possibly damaging	0.78
PIT4514001:Snap91	UTSW	9	86,879,433 (GRCm38)	missense	possibly damaging	0.86
R1564:Snap91	UTSW	9	86,792,196 (GRCm38)	missense	possibly damaging	0.85
R1804:Snap91	UTSW	9	86,783,417 (GRCm38)	missense	probably benign	0.01
R1840:Snap91	UTSW	9	86,815,465 (GRCm38)	missense	probably damaging	1.00
R1869:Snap91	UTSW	9	86,790,141 (GRCm38)	critical splice acceptor site	probably null
R2156:Snap91	UTSW	9	86,825,077 (GRCm38)	missense	probably damaging	1.00
R2221:Snap91	UTSW	9	86,792,527 (GRCm38)	missense	possibly damaging	0.53
R2223:Snap91	UTSW	9	86,792,527 (GRCm38)	missense	possibly damaging	0.53
R2233:Snap91	UTSW	9	86,798,571 (GRCm38)	missense	probably benign	0.23
R2680:Snap91	UTSW	9	86,879,550 (GRCm38)	start codon destroyed	probably null	1.00
R3077:Snap91	UTSW	9	86,838,854 (GRCm38)	missense	possibly damaging	0.95
R3702:Snap91	UTSW	9	86,806,520 (GRCm38)	missense	probably damaging	0.99
R3840:Snap91	UTSW	9	86,839,565 (GRCm38)	missense	probably damaging	1.00
R3912:Snap91	UTSW	9	86,792,557 (GRCm38)	missense	possibly damaging	0.53
R3913:Snap91	UTSW	9	86,792,557 (GRCm38)	missense	possibly damaging	0.53
R3958:Snap91	UTSW	9	86,838,130 (GRCm38)	missense	probably damaging	1.00
R3963:Snap91	UTSW	9	86,775,612 (GRCm38)	missense	probably damaging	1.00
R4043:Snap91	UTSW	9	86,777,049 (GRCm38)	missense	probably damaging	1.00
R4133:Snap91	UTSW	9	86,777,049 (GRCm38)	missense	probably damaging	1.00
R4641:Snap91	UTSW	9	86,879,475 (GRCm38)	missense	probably damaging	1.00
R4674:Snap91	UTSW	9	86,792,017 (GRCm38)	missense	possibly damaging	0.73
R4770:Snap91	UTSW	9	86,773,601 (GRCm38)	missense	possibly damaging	0.86
R4798:Snap91	UTSW	9	86,783,454 (GRCm38)	intron	probably benign
R4849:Snap91	UTSW	9	86,792,560 (GRCm38)	missense	possibly damaging	0.53
R4991:Snap91	UTSW	9	86,790,154 (GRCm38)	splice site	probably null
R5200:Snap91	UTSW	9	86,815,444 (GRCm38)	missense	probably damaging	1.00
R5354:Snap91	UTSW	9	86,835,124 (GRCm38)	missense	possibly damaging	0.84
R5644:Snap91	UTSW	9	86,790,153 (GRCm38)	splice site	probably null
R6029:Snap91	UTSW	9	86,825,080 (GRCm38)	splice site	probably null
R6091:Snap91	UTSW	9	86,839,628 (GRCm38)	missense	probably damaging	1.00
R6175:Snap91	UTSW	9	86,825,000 (GRCm38)	missense	probably damaging	1.00
R6191:Snap91	UTSW	9	86,838,052 (GRCm38)	missense	probably damaging	1.00
R6611:Snap91	UTSW	9	86,790,127 (GRCm38)	missense	probably benign	0.33
R6764:Snap91	UTSW	9	86,792,181 (GRCm38)	missense	probably benign	0.33
R6881:Snap91	UTSW	9	86,773,593 (GRCm38)	missense	possibly damaging	0.73
R7201:Snap91	UTSW	9	86,790,146 (GRCm38)	splice site	probably null
R7247:Snap91	UTSW	9	86,792,616 (GRCm38)	missense	unknown
R7327:Snap91	UTSW	9	86,773,545 (GRCm38)	missense	unknown
R7520:Snap91	UTSW	9	86,839,649 (GRCm38)	missense	probably damaging	1.00
R7572:Snap91	UTSW	9	86,806,494 (GRCm38)	missense	possibly damaging	0.58
R7616:Snap91	UTSW	9	86,839,621 (GRCm38)	missense	probably damaging	1.00
R7690:Snap91	UTSW	9	86,824,978 (GRCm38)	missense	possibly damaging	0.95
R7750:Snap91	UTSW	9	86,798,709 (GRCm38)	splice site	probably null
R8747:Snap91	UTSW	9	86,804,524 (GRCm38)	missense	probably damaging	0.99
R8918:Snap91	UTSW	9	86,769,558 (GRCm38)	missense	unknown
R9171:Snap91	UTSW	9	86,798,619 (GRCm38)	missense	probably benign	0.03
R9512:Snap91	UTSW	9	86,783,339 (GRCm38)	missense	unknown
R9764:Snap91	UTSW	9	86,825,041 (GRCm38)	missense	possibly damaging	0.60
X0027:Snap91	UTSW	9	86,798,828 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTATTACAGACTGCCAAGGCC -3'
(R):5'- GATGGACCAACTGGGCTTG -3'

Sequencing Primer
(F):5'- TTGAGCCCCTATGGTCACG -3'
(R):5'- CAACTGGGCTTGGCGCG -3'

Posted On

2019-06-26