Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00769:Psd3'

13195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psd3

Ensembl Gene

ENSMUSG00000030465

Gene Name

pleckstrin and Sec7 domain containing 3

Synonyms

EFA6D, 4931420C21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL00769

Quality Score

Status

Chromosome

Chromosomal Location

68141734-68664679 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 68361331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038959] [ENSMUST00000093468] [ENSMUST00000093469] [ENSMUST00000098696] [ENSMUST00000212505] [ENSMUST00000212960]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038959

SMART Domains

Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465

Domain	Start	End	E-Value	Type
low complexity region	204	218	N/A	INTRINSIC
Blast:Sec7	431	496	5e-28	BLAST
Sec7	502	693	3.9e-53	SMART
PH	743	857	3.85e-15	SMART
Blast:Sec7	876	938	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000093468

SMART Domains

Protein: ENSMUSP00000091178
Gene: ENSMUSG00000030465

Domain	Start	End	E-Value	Type
Sec7	17	206	1.35e-56	SMART
PH	256	370	3.85e-15	SMART
Blast:Sec7	389	451	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000093469

SMART Domains

Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465

Domain	Start	End	E-Value	Type
low complexity region	204	218	N/A	INTRINSIC
Blast:Sec7	431	496	5e-28	BLAST
Sec7	502	692	2.4e-53	SMART
PH	742	856	3.85e-15	SMART
Blast:Sec7	875	937	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000098696

SMART Domains

Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465

Domain	Start	End	E-Value	Type
low complexity region	204	218	N/A	INTRINSIC
Blast:Sec7	431	496	5e-28	BLAST
Sec7	502	692	2.4e-53	SMART
PH	742	856	3.85e-15	SMART
Blast:Sec7	875	937	2e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150169

Predicted Effect

probably benign
Transcript: ENSMUST00000212505

Predicted Effect

probably benign
Transcript: ENSMUST00000212960

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,039 (GRCm39)	V516A	possibly damaging	Het
Ambp	G	A	4: 63,062,402 (GRCm39)	T279I	probably damaging	Het
Ankrd28	A	G	14: 31,465,322 (GRCm39)	V285A	possibly damaging	Het
Arfgef3	A	G	10: 18,536,352 (GRCm39)	S220P	probably benign	Het
Atp9b	G	T	18: 80,956,068 (GRCm39)	H129N	probably benign	Het
Cdh10	C	A	15: 18,985,185 (GRCm39)	P283Q	possibly damaging	Het
Cep295	A	G	9: 15,237,440 (GRCm39)	S1941P	probably damaging	Het
Dmbt1	T	A	7: 130,684,230 (GRCm39)	S575R	probably damaging	Het
Dock11	A	G	X: 35,267,715 (GRCm39)	N796S	possibly damaging	Het
Enam	A	T	5: 88,649,343 (GRCm39)	Y284F	possibly damaging	Het
F8	A	T	X: 74,377,786 (GRCm39)		probably benign	Het
Fbxo42	C	T	4: 140,907,760 (GRCm39)	T140M	probably damaging	Het
Galnt13	G	A	2: 54,770,116 (GRCm39)	E303K	probably benign	Het
Minar2	T	C	18: 59,205,349 (GRCm39)	S88P	probably damaging	Het
Mrgprb4	T	A	7: 47,848,649 (GRCm39)	D93V	probably benign	Het
Msl3	T	A	X: 167,451,744 (GRCm39)	E215V	probably damaging	Het
Pglyrp3	A	T	3: 91,921,929 (GRCm39)		probably benign	Het
Prdx1	G	A	4: 116,550,162 (GRCm39)	D115N	probably benign	Het
Rundc1	A	G	11: 101,325,100 (GRCm39)	D602G	probably damaging	Het
Slc4a1ap	T	G	5: 31,711,121 (GRCm39)	Y742D	probably damaging	Het
Spmap1	A	G	11: 97,662,407 (GRCm39)	F155S	probably damaging	Het
Ugt1a6a	C	T	1: 88,066,772 (GRCm39)	P193S	probably damaging	Het
Vmn2r96	G	A	17: 18,804,081 (GRCm39)	V252M	probably benign	Het
Wdr53	G	A	16: 32,075,315 (GRCm39)	W173*	probably null	Het

Other mutations in Psd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Psd3	APN	8	68,361,165 (GRCm39)	missense	probably damaging	1.00
IGL01139:Psd3	APN	8	68,361,187 (GRCm39)	missense	probably damaging	1.00
IGL01330:Psd3	APN	8	68,149,830 (GRCm39)	missense	probably damaging	1.00
IGL01350:Psd3	APN	8	68,173,544 (GRCm39)	missense	probably damaging	1.00
IGL01487:Psd3	APN	8	68,149,766 (GRCm39)	missense	probably benign	0.01
IGL01780:Psd3	APN	8	68,416,521 (GRCm39)	missense	probably benign
IGL02020:Psd3	APN	8	68,426,822 (GRCm39)	intron	probably benign
IGL02232:Psd3	APN	8	68,356,797 (GRCm39)	missense	probably damaging	1.00
IGL02350:Psd3	APN	8	68,416,521 (GRCm39)	missense	probably benign
IGL02357:Psd3	APN	8	68,416,521 (GRCm39)	missense	probably benign
PIT4495001:Psd3	UTSW	8	68,416,565 (GRCm39)	missense	probably benign	0.00
R0052:Psd3	UTSW	8	68,335,631 (GRCm39)	critical splice donor site	probably null
R0052:Psd3	UTSW	8	68,335,631 (GRCm39)	critical splice donor site	probably null
R0242:Psd3	UTSW	8	68,210,738 (GRCm39)	missense	probably damaging	0.99
R0242:Psd3	UTSW	8	68,210,738 (GRCm39)	missense	probably damaging	0.99
R0581:Psd3	UTSW	8	68,173,598 (GRCm39)	missense	probably damaging	1.00
R0655:Psd3	UTSW	8	68,416,341 (GRCm39)	missense	probably benign	0.19
R1740:Psd3	UTSW	8	68,573,491 (GRCm39)	missense	probably damaging	1.00
R1789:Psd3	UTSW	8	68,413,217 (GRCm39)	missense	probably benign	0.26
R1847:Psd3	UTSW	8	68,172,656 (GRCm39)	missense	possibly damaging	0.93
R1951:Psd3	UTSW	8	68,416,139 (GRCm39)	missense	probably benign	0.00
R1954:Psd3	UTSW	8	68,149,727 (GRCm39)	missense	probably damaging	1.00
R2143:Psd3	UTSW	8	68,417,003 (GRCm39)	missense	probably damaging	1.00
R4387:Psd3	UTSW	8	68,453,413 (GRCm39)	missense	probably damaging	1.00
R4801:Psd3	UTSW	8	68,573,800 (GRCm39)	missense	probably benign
R4802:Psd3	UTSW	8	68,573,800 (GRCm39)	missense	probably benign
R4913:Psd3	UTSW	8	68,573,821 (GRCm39)	missense	probably damaging	0.99
R5045:Psd3	UTSW	8	68,166,477 (GRCm39)	missense	probably damaging	0.99
R5173:Psd3	UTSW	8	68,149,641 (GRCm39)	missense	probably damaging	1.00
R5264:Psd3	UTSW	8	68,166,377 (GRCm39)	missense	probably benign	0.23
R5350:Psd3	UTSW	8	68,361,513 (GRCm39)	missense	probably benign	0.00
R5816:Psd3	UTSW	8	68,413,162 (GRCm39)	missense	possibly damaging	0.90
R5994:Psd3	UTSW	8	68,172,620 (GRCm39)	missense	probably damaging	1.00
R6157:Psd3	UTSW	8	68,574,179 (GRCm39)	start codon destroyed	probably benign	0.14
R6241:Psd3	UTSW	8	68,270,791 (GRCm39)	intron	probably benign
R6586:Psd3	UTSW	8	68,416,197 (GRCm39)	missense	probably damaging	0.96
R6735:Psd3	UTSW	8	68,573,398 (GRCm39)	critical splice donor site	probably null
R6908:Psd3	UTSW	8	68,416,829 (GRCm39)	missense	probably benign	0.00
R6984:Psd3	UTSW	8	68,270,697 (GRCm39)	missense	possibly damaging	0.85
R7082:Psd3	UTSW	8	68,356,800 (GRCm39)	missense	probably benign	0.03
R7116:Psd3	UTSW	8	68,166,390 (GRCm39)	missense	probably benign	0.12
R7297:Psd3	UTSW	8	68,573,686 (GRCm39)	missense	probably damaging	0.98
R7334:Psd3	UTSW	8	68,361,357 (GRCm39)	missense	possibly damaging	0.94
R7348:Psd3	UTSW	8	68,243,583 (GRCm39)	missense	possibly damaging	0.65
R7357:Psd3	UTSW	8	68,574,149 (GRCm39)	missense	probably benign	0.01
R7369:Psd3	UTSW	8	68,356,818 (GRCm39)	missense	possibly damaging	0.95
R7385:Psd3	UTSW	8	68,453,408 (GRCm39)	missense	probably damaging	1.00
R7733:Psd3	UTSW	8	68,573,568 (GRCm39)	missense	possibly damaging	0.75
R7873:Psd3	UTSW	8	68,335,634 (GRCm39)	missense	possibly damaging	0.95
R8110:Psd3	UTSW	8	68,573,708 (GRCm39)	missense	probably damaging	1.00
R8765:Psd3	UTSW	8	68,416,093 (GRCm39)	missense	possibly damaging	0.69
R8768:Psd3	UTSW	8	68,417,003 (GRCm39)	missense	probably damaging	1.00
R8817:Psd3	UTSW	8	68,413,135 (GRCm39)	missense	possibly damaging	0.95
R8837:Psd3	UTSW	8	68,172,596 (GRCm39)	missense	probably damaging	0.99
R8878:Psd3	UTSW	8	68,210,750 (GRCm39)	missense	probably benign	0.28
R8903:Psd3	UTSW	8	68,165,945 (GRCm39)	missense	unknown
R8955:Psd3	UTSW	8	68,416,461 (GRCm39)	missense	probably benign	0.08
R9216:Psd3	UTSW	8	68,573,539 (GRCm39)	missense	probably benign	0.00
R9241:Psd3	UTSW	8	68,415,967 (GRCm39)	missense	probably benign	0.00
R9351:Psd3	UTSW	8	68,413,301 (GRCm39)	missense	probably benign	0.18
R9449:Psd3	UTSW	8	68,165,833 (GRCm39)	missense	unknown
R9451:Psd3	UTSW	8	68,363,487 (GRCm39)	missense	unknown
R9709:Psd3	UTSW	8	68,194,414 (GRCm39)	missense	probably null	0.99
R9797:Psd3	UTSW	8	68,210,778 (GRCm39)	missense	probably damaging	0.99
Z1088:Psd3	UTSW	8	68,358,912 (GRCm39)	splice site	silent

Posted On

2012-12-06