Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01139:Psd3'

51822

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

Ncbi RefSeq: NM_030263.5, NM_027626.1; MGI:1918215

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

67689082-68212027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67908535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 863 (Y863N)

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 damaging
Transcript: ENSMUST00000038959
AA Change: Y577N

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

SMART Domains

Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: Y577N

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 damaging
Transcript: ENSMUST00000093468
AA Change: Y92N

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

SMART Domains

Protein: ENSMUSP00000091178
Gene: ENSMUSG00000030465
AA Change: Y92N

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 damaging
Transcript: ENSMUST00000093469
AA Change: Y577N

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

SMART Domains

Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: Y577N

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 damaging
Transcript: ENSMUST00000098696
AA Change: Y577N

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

SMART Domains

Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: Y577N

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 damaging
Transcript: ENSMUST00000212505
AA Change: Y609N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212960
AA Change: Y863N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,405,885	I215N	probably damaging	Het
Ambn	C	T	5: 88,464,517		probably benign	Het
Arhgef1	T	A	7: 24,925,951		probably benign	Het
Arid1a	A	C	4: 133,693,997	S832R	unknown	Het
Clca4a	A	T	3: 144,966,269	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,458,964	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,221,143	D211E	probably damaging	Het
Eri2	A	G	7: 119,786,737		probably null	Het
Fhod3	C	T	18: 25,066,344	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,246,592	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,818,227	T648I	probably benign	Het
Gm4222	T	A	2: 90,148,545		probably benign	Het
Gm438	A	T	4: 144,777,689	Y297*	probably null	Het
Gm5475	G	A	15: 100,424,215		probably benign	Het
Jaml	C	A	9: 45,101,019	T268N	possibly damaging	Het
Kank3	G	A	17: 33,817,401	G81E	probably damaging	Het
Lrba	A	G	3: 86,642,662	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,416,009	S555P	probably benign	Het
Map3k15	T	A	X: 160,072,879	M350K	probably damaging	Het
Mipol1	C	A	12: 57,306,035	Y53*	probably null	Het
Mn1	A	G	5: 111,421,449	D1095G	probably damaging	Het
Myh14	T	C	7: 44,606,292		probably benign	Het
Nrn1	A	G	13: 36,730,216	C31R	probably damaging	Het
Nup210	A	T	6: 91,030,097	L579H	possibly damaging	Het
Nxf2	T	C	X: 134,950,396	I578V	probably benign	Het
Obscn	G	A	11: 59,078,352	A172V	probably damaging	Het
Olfr1006	T	G	2: 85,674,497	Y218S	probably damaging	Het
Olfr55	T	A	17: 33,176,782	Y123N	probably damaging	Het
Phtf1	A	G	3: 104,005,602	D748G	probably damaging	Het
Psmc6	C	T	14: 45,343,710	T321I	probably benign	Het
Rassf6	T	C	5: 90,608,966	*31W	probably null	Het
Rictor	A	C	15: 6,778,268	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,322,842	M470I	probably damaging	Het
Tex28	A	T	X: 74,151,224	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,138,734	V163D	probably damaging	Het
Tmco3	G	A	8: 13,319,887	R633Q	possibly damaging	Het
Trf	A	T	9: 103,223,604	V224D	probably damaging	Het
Ttc8	C	T	12: 98,964,545	Q273*	probably null	Het
Usp9x	A	G	X: 13,104,576		probably benign	Het
Vmn2r117	A	G	17: 23,477,804	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,491,405	S718P	probably benign	Het
Vps13a	T	C	19: 16,640,625	D2932G	probably damaging	Het
Whamm	T	C	7: 81,595,914	L706P	probably damaging	Het
Yeats2	G	A	16: 20,214,393	V45I	probably damaging	Het
Yipf3	G	A	17: 46,250,457		probably null	Het
Zeb1	T	C	18: 5,705,061	V26A	possibly damaging	Het

Other mutations in Psd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Psd3	APN	8	67908679	splice site	probably benign
IGL01095:Psd3	APN	8	67908513	missense	probably damaging	1.00
IGL01330:Psd3	APN	8	67697178	missense	probably damaging	1.00
IGL01350:Psd3	APN	8	67720892	missense	probably damaging	1.00
IGL01487:Psd3	APN	8	67697114	missense	probably benign	0.01
IGL01780:Psd3	APN	8	67963869	missense	probably benign
IGL02020:Psd3	APN	8	67974170	intron	probably benign
IGL02232:Psd3	APN	8	67904145	missense	probably damaging	1.00
IGL02350:Psd3	APN	8	67963869	missense	probably benign
IGL02357:Psd3	APN	8	67963869	missense	probably benign
PIT4495001:Psd3	UTSW	8	67963913	missense	probably benign	0.00
R0052:Psd3	UTSW	8	67882979	critical splice donor site	probably null
R0052:Psd3	UTSW	8	67882979	critical splice donor site	probably null
R0242:Psd3	UTSW	8	67758086	missense	probably damaging	0.99
R0242:Psd3	UTSW	8	67758086	missense	probably damaging	0.99
R0581:Psd3	UTSW	8	67720946	missense	probably damaging	1.00
R0655:Psd3	UTSW	8	67963689	missense	probably benign	0.19
R1740:Psd3	UTSW	8	68120839	missense	probably damaging	1.00
R1789:Psd3	UTSW	8	67960565	missense	probably benign	0.26
R1847:Psd3	UTSW	8	67720004	missense	possibly damaging	0.93
R1951:Psd3	UTSW	8	67963487	missense	probably benign	0.00
R1954:Psd3	UTSW	8	67697075	missense	probably damaging	1.00
R2143:Psd3	UTSW	8	67964351	missense	probably damaging	1.00
R4387:Psd3	UTSW	8	68000761	missense	probably damaging	1.00
R4801:Psd3	UTSW	8	68121148	missense	probably benign
R4802:Psd3	UTSW	8	68121148	missense	probably benign
R4913:Psd3	UTSW	8	68121169	missense	probably damaging	0.99
R5045:Psd3	UTSW	8	67713825	missense	probably damaging	0.99
R5173:Psd3	UTSW	8	67696989	missense	probably damaging	1.00
R5264:Psd3	UTSW	8	67713725	missense	probably benign	0.23
R5350:Psd3	UTSW	8	67908861	missense	probably benign	0.00
R5816:Psd3	UTSW	8	67960510	missense	possibly damaging	0.90
R5994:Psd3	UTSW	8	67719968	missense	probably damaging	1.00
R6157:Psd3	UTSW	8	68121527	start codon destroyed	probably benign	0.14
R6241:Psd3	UTSW	8	67818139	intron	probably benign
R6586:Psd3	UTSW	8	67963545	missense	probably damaging	0.96
R6735:Psd3	UTSW	8	68120746	critical splice donor site	probably null
R6908:Psd3	UTSW	8	67964177	missense	probably benign	0.00
R6984:Psd3	UTSW	8	67818045	missense	possibly damaging	0.85
R7082:Psd3	UTSW	8	67904148	missense	probably benign	0.03
R7116:Psd3	UTSW	8	67713738	missense	probably benign	0.12
R7297:Psd3	UTSW	8	68121034	missense	probably damaging	0.98
R7334:Psd3	UTSW	8	67908705	missense	possibly damaging	0.94
R7348:Psd3	UTSW	8	67790931	missense	possibly damaging	0.65
R7357:Psd3	UTSW	8	68121497	missense	probably benign	0.01
R7369:Psd3	UTSW	8	67904166	missense	possibly damaging	0.95
R7385:Psd3	UTSW	8	68000756	missense	probably damaging	1.00
R7733:Psd3	UTSW	8	68120916	missense	possibly damaging	0.75
R7873:Psd3	UTSW	8	67882982	missense	possibly damaging	0.95
R8110:Psd3	UTSW	8	68121056	missense	probably damaging	1.00
R8765:Psd3	UTSW	8	67963441	missense	possibly damaging	0.69
R8768:Psd3	UTSW	8	67964351	missense	probably damaging	1.00
R8817:Psd3	UTSW	8	67960483	missense	possibly damaging	0.95
R8837:Psd3	UTSW	8	67719944	missense	probably damaging	0.99
R8878:Psd3	UTSW	8	67758098	missense	probably benign	0.28
R8903:Psd3	UTSW	8	67713293	missense	unknown
R8955:Psd3	UTSW	8	67963809	missense	probably benign	0.08
R9216:Psd3	UTSW	8	68120887	missense	probably benign	0.00
R9241:Psd3	UTSW	8	67963315	missense	probably benign	0.00
R9351:Psd3	UTSW	8	67960649	missense	probably benign	0.18
R9449:Psd3	UTSW	8	67713181	missense	unknown
R9451:Psd3	UTSW	8	67910835	missense	unknown
R9709:Psd3	UTSW	8	67741762	missense	probably null	0.99
R9797:Psd3	UTSW	8	67758126	missense	probably damaging	0.99
Z1088:Psd3	UTSW	8	67906260	splice site	silent

Posted On

2013-06-21