Mutagenetix > Incidental Mutations

Incidental Mutation 'R2332:Pacsin1'

246489

Institutional Source

Beutler Lab

Gene Symbol

Pacsin1

Ensembl Gene

ENSMUSG00000040276

Gene Name

protein kinase C and casein kinase substrate in neurons 1

Synonyms

A830061D09Rik, Syndapin I

MMRRC Submission

040322-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R2332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27655509-27711482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27704911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 93 (E93G)

Ref Sequence

ENSEMBL: ENSMUSP00000155999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045896] [ENSMUST00000097360] [ENSMUST00000114872] [ENSMUST00000114873] [ENSMUST00000231236] [ENSMUST00000231669] [ENSMUST00000232437]

AlphaFold

Q61644

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045896
AA Change: E93G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: E93G

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097360
AA Change: E93G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: E93G

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114872

SMART Domains

Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114873
AA Change: E93G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: E93G

Domain	Start	End	E-Value	Type
FCH	14	102	1.53e-29	SMART
low complexity region	144	156	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
SH3	385	441	8.11e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231236
AA Change: E93G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231350

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231669
AA Change: E93G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232225

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232437
AA Change: E93G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.2618

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (47/48)

MGI Phenotype

PHENOTYPE: Homozygotes for a gene trapped allele show altered type I interferon responses in plasmacytoid dendritic cells. Homozygotes for a null allele show impaired synaptic vesicle formation, synaptic transmission and neuronal network activity, and develop generalized seizures with tonic-clonic convulsions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	C	18: 34,317,059	I2302T	possibly damaging	Het
Apoa4	G	A	9: 46,242,355	V85I	probably benign	Het
Banf1	C	T	19: 5,365,030	W84*	probably null	Het
Cdk13	A	G	13: 17,718,695	L627P	probably damaging	Het
Cep250	A	G	2: 155,990,607	E1483G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ddx60	A	G	8: 62,037,091	E1698G	probably benign	Het
Depdc1a	C	A	3: 159,523,866	Q612K	probably damaging	Het
Dnaja2	G	A	8: 85,540,136	R321C	probably damaging	Het
Fam186b	T	A	15: 99,280,428	E339V	probably benign	Het
Fga	T	C	3: 83,031,397	F360L	probably damaging	Het
Fut9	C	T	4: 25,619,823	W330*	probably null	Het
Ghr	T	C	15: 3,320,409	N429S	probably benign	Het
Gm5444	A	T	13: 4,833,625		noncoding transcript	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hoxa5	T	C	6: 52,202,679	I239V	probably damaging	Het
Hps6	T	C	19: 46,004,491	V289A	possibly damaging	Het
Iqcb1	A	G	16: 36,843,439	N190D	possibly damaging	Het
Map3k13	G	A	16: 21,898,677		probably null	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Olfr607	A	G	7: 103,461,086	Y41H	probably damaging	Het
Pds5a	A	G	5: 65,627,079		probably null	Het
Ppp1r9b	A	T	11: 94,996,609	E482D	probably damaging	Het
Rhobtb3	A	G	13: 75,910,852	S276P	probably benign	Het
Rimbp2	A	G	5: 128,789,641	V538A	probably benign	Het
Rmdn3	A	T	2: 119,153,527		probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Sh3rf1	C	T	8: 61,226,287	P121L	probably benign	Het
Slc4a11	A	T	2: 130,684,459	V855D	probably benign	Het
Speer4f1	C	A	5: 17,479,524	N183K	probably damaging	Het
Sstr4	A	T	2: 148,396,410	N314Y	probably damaging	Het
Synj2	A	G	17: 6,023,794	K288E	probably damaging	Het
Trhde	T	A	10: 114,592,165	N409Y	probably damaging	Het
Ttn	A	T	2: 76,781,139	W15604R	probably damaging	Het
Ugdh	C	T	5: 65,427,484	V32I	possibly damaging	Het
Uhrf1	C	A	17: 56,310,671		probably null	Het
Vps13d	G	T	4: 145,148,686	D1750E	probably benign	Het
Wdfy3	A	G	5: 101,888,323		probably benign	Het
Wnt4	C	A	4: 137,296,520	T266K	probably benign	Het
Wtap	C	T	17: 12,967,538	R374Q	possibly damaging	Het
Zfp322a	A	T	13: 23,357,324	C83S	probably damaging	Het

Other mutations in Pacsin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Pacsin1	APN	17	27704835	splice site	probably null
IGL02752:Pacsin1	APN	17	27702698	critical splice acceptor site	probably null
R1428:Pacsin1	UTSW	17	27705963	missense	probably damaging	1.00
R4349:Pacsin1	UTSW	17	27707004	missense	possibly damaging	0.52
R4664:Pacsin1	UTSW	17	27707064	missense	probably damaging	1.00
R5568:Pacsin1	UTSW	17	27708048	missense	probably damaging	1.00
R5936:Pacsin1	UTSW	17	27704997	missense	probably benign	0.16
R5943:Pacsin1	UTSW	17	27706071	missense	probably damaging	1.00
R6277:Pacsin1	UTSW	17	27705995	splice site	probably null
R6284:Pacsin1	UTSW	17	27708504	missense	probably damaging	1.00
R6376:Pacsin1	UTSW	17	27707905	missense	probably benign	0.33
R7134:Pacsin1	UTSW	17	27702733	missense	probably damaging	1.00
R7972:Pacsin1	UTSW	17	27708639	missense	unknown
R8141:Pacsin1	UTSW	17	27707060	missense	possibly damaging	0.78
R9263:Pacsin1	UTSW	17	27704950	missense	probably damaging	1.00
R9316:Pacsin1	UTSW	17	27705733	missense	possibly damaging	0.77
R9414:Pacsin1	UTSW	17	27708011	missense	probably damaging	0.99
Z1177:Pacsin1	UTSW	17	27708438	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTTGCCATGGGAAGAGAG -3'
(R):5'- GATGCTGGCATTCCCTTGTG -3'

Sequencing Primer
(F):5'- GGGGGAAGTGTCAGAGAGG -3'
(R):5'- ACAGATGCCCTCCTGTGAC -3'

Posted On

2014-10-30