Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02240:Psd4'

286027

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psd4

Ensembl Gene

ENSMUSG00000026979

Gene Name

pleckstrin and Sec7 domain containing 4

Synonyms

SEC7 homolog, EFA6B

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02240

Quality Score

Status

Chromosome

Chromosomal Location

24257571-24299882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24286389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 330 (S330A)

Ref Sequence

ENSEMBL: ENSMUSP00000132395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056641] [ENSMUST00000102942] [ENSMUST00000127242] [ENSMUST00000131930] [ENSMUST00000140303] [ENSMUST00000140547] [ENSMUST00000166388] [ENSMUST00000142522]

AlphaFold

Q8BLR5

Predicted Effect

probably benign
Transcript: ENSMUST00000056641
AA Change: S330A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: S330A

Domain	Start	End	E-Value	Type
low complexity region	156	176	N/A	INTRINSIC
low complexity region	350	361	N/A	INTRINSIC
low complexity region	420	438	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC
Sec7	497	688	9.39e-47	SMART
PH	727	843	1.1e-10	SMART
low complexity region	883	893	N/A	INTRINSIC
low complexity region	897	920	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102942
AA Change: S330A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: S330A

Domain	Start	End	E-Value	Type
low complexity region	156	176	N/A	INTRINSIC
low complexity region	350	361	N/A	INTRINSIC
low complexity region	420	438	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC
Sec7	497	688	9.39e-47	SMART
PH	727	843	1.1e-10	SMART
low complexity region	883	893	N/A	INTRINSIC
low complexity region	897	920	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127242

Predicted Effect

probably benign
Transcript: ENSMUST00000131930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133730

Predicted Effect

probably benign
Transcript: ENSMUST00000140303

Predicted Effect

probably benign
Transcript: ENSMUST00000140547

Predicted Effect

probably benign
Transcript: ENSMUST00000166388
AA Change: S330A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: S330A

Domain	Start	End	E-Value	Type
low complexity region	156	176	N/A	INTRINSIC
low complexity region	350	361	N/A	INTRINSIC
low complexity region	420	438	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC
Sec7	497	688	9.39e-47	SMART
PH	727	843	1.1e-10	SMART
low complexity region	883	893	N/A	INTRINSIC
low complexity region	897	920	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142522

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,780,623 (GRCm39)	E1169G	probably damaging	Het
Cdc34	A	G	10: 79,523,823 (GRCm39)	D168G	possibly damaging	Het
Cwc27	A	T	13: 104,943,151 (GRCm39)	F130L	probably damaging	Het
Dglucy	T	A	12: 100,837,672 (GRCm39)	M635K	possibly damaging	Het
Eral1	G	A	11: 77,968,687 (GRCm39)	R149*	probably null	Het
Gad1-ps	A	G	10: 99,280,820 (GRCm39)		noncoding transcript	Het
Glis3	A	T	19: 28,508,925 (GRCm39)	L353Q	probably damaging	Het
Gsta2	T	A	9: 78,238,441 (GRCm39)	I213F	probably benign	Het
Ist1	A	T	8: 110,408,836 (GRCm39)		probably benign	Het
Kif1b	A	G	4: 149,330,871 (GRCm39)	V549A	probably damaging	Het
Lrp2	C	T	2: 69,365,390 (GRCm39)	R261H	probably benign	Het
Msh4	T	C	3: 153,579,311 (GRCm39)	N512S	probably damaging	Het
Nlrp2	A	T	7: 5,330,822 (GRCm39)	S525T	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or8b56	T	A	9: 38,739,602 (GRCm39)	V205D	probably benign	Het
Pcdhb10	A	T	18: 37,545,455 (GRCm39)	H177L	possibly damaging	Het
Plcb3	A	T	19: 6,935,448 (GRCm39)		probably benign	Het
Podxl	A	G	6: 31,501,933 (GRCm39)	L342P	probably damaging	Het
Sucla2	A	G	14: 73,828,287 (GRCm39)	D298G	probably damaging	Het
Tecr	T	C	8: 84,300,045 (GRCm39)	D107G	probably damaging	Het
Vamp4	T	A	1: 162,405,446 (GRCm39)	N24K	possibly damaging	Het
Zfp91	A	G	19: 12,753,770 (GRCm39)		probably benign	Het

Other mutations in Psd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Psd4	APN	2	24,284,298 (GRCm39)	missense	probably benign	0.25
IGL01302:Psd4	APN	2	24,286,799 (GRCm39)	critical splice donor site	probably null
IGL01446:Psd4	APN	2	24,295,407 (GRCm39)	missense	probably damaging	1.00
IGL01577:Psd4	APN	2	24,293,234 (GRCm39)	missense	probably damaging	0.96
IGL01823:Psd4	APN	2	24,284,444 (GRCm39)	missense	probably benign	0.27
IGL02103:Psd4	APN	2	24,290,540 (GRCm39)	nonsense	probably null
IGL02212:Psd4	APN	2	24,295,326 (GRCm39)	nonsense	probably null
IGL02261:Psd4	APN	2	24,291,756 (GRCm39)	missense	probably damaging	1.00
IGL02345:Psd4	APN	2	24,291,835 (GRCm39)	critical splice donor site	probably null
IGL03272:Psd4	APN	2	24,295,692 (GRCm39)	splice site	probably benign
bitcoin	UTSW	2	24,291,569 (GRCm39)	missense	probably damaging	1.00
crypto	UTSW	2	24,287,259 (GRCm39)	missense	probably benign
Ethereum	UTSW	2	24,296,996 (GRCm39)	missense	probably damaging	1.00
underworld	UTSW	2	24,295,363 (GRCm39)	missense	probably damaging	1.00
PIT4469001:Psd4	UTSW	2	24,284,306 (GRCm39)	missense	probably benign	0.08
R0131:Psd4	UTSW	2	24,295,363 (GRCm39)	missense	probably damaging	1.00
R0131:Psd4	UTSW	2	24,295,363 (GRCm39)	missense	probably damaging	1.00
R0132:Psd4	UTSW	2	24,295,363 (GRCm39)	missense	probably damaging	1.00
R0278:Psd4	UTSW	2	24,284,450 (GRCm39)	missense	probably damaging	1.00
R1303:Psd4	UTSW	2	24,285,030 (GRCm39)	missense	probably benign	0.00
R1551:Psd4	UTSW	2	24,293,292 (GRCm39)	missense	probably benign	0.02
R1715:Psd4	UTSW	2	24,295,344 (GRCm39)	missense	probably damaging	1.00
R1854:Psd4	UTSW	2	24,287,468 (GRCm39)	missense	probably benign	0.26
R1942:Psd4	UTSW	2	24,295,805 (GRCm39)	missense	probably damaging	1.00
R2392:Psd4	UTSW	2	24,284,679 (GRCm39)	missense	probably damaging	0.98
R2420:Psd4	UTSW	2	24,291,253 (GRCm39)	missense	probably damaging	1.00
R4509:Psd4	UTSW	2	24,286,347 (GRCm39)	missense	probably benign
R4512:Psd4	UTSW	2	24,292,901 (GRCm39)	missense	probably damaging	1.00
R4558:Psd4	UTSW	2	24,294,806 (GRCm39)	missense	probably damaging	1.00
R4995:Psd4	UTSW	2	24,287,259 (GRCm39)	missense	probably benign
R5120:Psd4	UTSW	2	24,295,450 (GRCm39)	missense	probably benign
R5314:Psd4	UTSW	2	24,290,528 (GRCm39)	missense	possibly damaging	0.89
R5563:Psd4	UTSW	2	24,284,897 (GRCm39)	missense	probably benign
R5638:Psd4	UTSW	2	24,287,427 (GRCm39)	missense	probably benign	0.14
R6191:Psd4	UTSW	2	24,284,499 (GRCm39)	missense	probably damaging	1.00
R6224:Psd4	UTSW	2	24,291,569 (GRCm39)	missense	probably damaging	1.00
R7024:Psd4	UTSW	2	24,284,555 (GRCm39)	missense	possibly damaging	0.76
R7046:Psd4	UTSW	2	24,284,985 (GRCm39)	missense	probably benign	0.05
R7209:Psd4	UTSW	2	24,287,357 (GRCm39)	missense	probably damaging	1.00
R7483:Psd4	UTSW	2	24,294,768 (GRCm39)	missense	possibly damaging	0.65
R7498:Psd4	UTSW	2	24,296,996 (GRCm39)	missense	probably damaging	1.00
R7571:Psd4	UTSW	2	24,297,023 (GRCm39)	missense	probably damaging	1.00
R7741:Psd4	UTSW	2	24,291,108 (GRCm39)	critical splice donor site	probably null
R7978:Psd4	UTSW	2	24,294,867 (GRCm39)	missense	probably damaging	1.00
R8133:Psd4	UTSW	2	24,286,701 (GRCm39)	missense	probably benign
R8254:Psd4	UTSW	2	24,293,223 (GRCm39)	missense	probably damaging	0.99
R8786:Psd4	UTSW	2	24,295,444 (GRCm39)	missense	probably benign	0.08
R8797:Psd4	UTSW	2	24,287,440 (GRCm39)	missense	probably benign	0.02
R9015:Psd4	UTSW	2	24,287,492 (GRCm39)	missense
R9413:Psd4	UTSW	2	24,287,472 (GRCm39)	missense	probably benign	0.39
X0009:Psd4	UTSW	2	24,291,537 (GRCm39)	missense	probably damaging	1.00
X0064:Psd4	UTSW	2	24,294,750 (GRCm39)	missense	probably damaging	0.99
Z1177:Psd4	UTSW	2	24,284,943 (GRCm39)	frame shift	probably null
Z1177:Psd4	UTSW	2	24,284,924 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16