Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Pacsin1'

161416

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

039484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27655509-27711482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27705963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 217 (T217I)

Ref Sequence

ENSEMBL: ENSMUSP00000155999 (fasta)

Gene Model

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

AlphaFold

Q61644

Predicted Effect

probably damaging
Transcript: ENSMUST00000045896
AA Change: T217I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: T217I

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 damaging
Transcript: ENSMUST00000097360
AA Change: T217I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: T217I

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 damaging
Transcript: ENSMUST00000114872
AA Change: T60I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
AA Change: T60I

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 damaging
Transcript: ENSMUST00000114873
AA Change: T217I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: T217I

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: ENSMUST00000231236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231350

Predicted Effect

probably damaging
Transcript: ENSMUST00000231669
AA Change: T217I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232225

Predicted Effect

probably damaging
Transcript: ENSMUST00000232437
AA Change: T217I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2171

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	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
R2332:Pacsin1	UTSW	17	27704911	missense	possibly damaging	0.73
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'- CAGTAAGACAGAGCAGTCGGTCAC -3'
(R):5'- GCTGCATTTGCAGGCTCTTACCAG -3'

Sequencing Primer
(F):5'- GTACCTgtggtggtgcctg -3'
(R):5'- TCCCCGTGAGTCGTccc -3'

Posted On

2014-03-14