Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01823:Psd4'

154608

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 #

IGL01823

Quality Score

Status

Chromosome

Chromosomal Location

24257571-24299882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24284444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 103 (S103G)

Ref Sequence

ENSEMBL: ENSMUSP00000141819 (fasta)

Gene Model

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

AlphaFold

Q8BLR5

Predicted Effect

probably benign
Transcript: ENSMUST00000056641
AA Change: S103G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: S103G

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: S103G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: S103G

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
AA Change: S103G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000131930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133730

Predicted Effect

probably benign
Transcript: ENSMUST00000140547

Predicted Effect

probably benign
Transcript: ENSMUST00000142522

Predicted Effect

probably benign
Transcript: ENSMUST00000166388
AA Change: S103G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: S103G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp6	A	G	13: 38,682,798 (GRCm39)	T460A	probably damaging	Het
Cd209a	T	C	8: 3,798,851 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,212,391 (GRCm39)	L1250P	probably damaging	Het
Evc	T	C	5: 37,485,865 (GRCm39)	N104D	probably damaging	Het
Fam161a	A	T	11: 22,965,785 (GRCm39)	E26V	probably damaging	Het
Foxa3	T	C	7: 18,748,443 (GRCm39)	T228A	probably benign	Het
Gm8206	A	T	14: 6,017,078 (GRCm38)	D133E	probably benign	Het
Ighv1-15	T	A	12: 114,621,212 (GRCm39)	T38S	probably benign	Het
Ikzf1	A	G	11: 11,719,091 (GRCm39)	D266G	possibly damaging	Het
Man2a1	T	C	17: 64,973,819 (GRCm39)	I365T	probably damaging	Het
Mcm4	T	C	16: 15,443,995 (GRCm39)	D756G	probably damaging	Het
Mroh9	G	A	1: 162,883,178 (GRCm39)	L434F	probably benign	Het
Or13p4	A	G	4: 118,546,918 (GRCm39)	C244R	probably damaging	Het
Or14c45	T	C	7: 86,176,249 (GRCm39)	C95R	probably damaging	Het
Phldb2	T	A	16: 45,645,507 (GRCm39)	Y313F	probably damaging	Het
Ripk4	T	C	16: 97,556,483 (GRCm39)	I87V	possibly damaging	Het
Scn9a	A	T	2: 66,314,386 (GRCm39)	F1766L	probably damaging	Het
Slc10a5	A	T	3: 10,399,574 (GRCm39)	V362D	possibly damaging	Het
Slc12a3	A	G	8: 95,083,724 (GRCm39)	D917G	probably benign	Het
Slc30a4	A	G	2: 122,544,012 (GRCm39)	V110A	probably damaging	Het
Slc30a8	A	G	15: 52,159,358 (GRCm39)		probably benign	Het
Slc5a8	T	A	10: 88,755,334 (GRCm39)	C480*	probably null	Het
Tmppe	A	G	9: 114,234,175 (GRCm39)	K158R	probably benign	Het
Tubb6	A	G	18: 67,535,343 (GRCm39)	N414S	probably damaging	Het
Wnt8a	A	T	18: 34,677,846 (GRCm39)	T85S	possibly damaging	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
IGL02103:Psd4	APN	2	24,290,540 (GRCm39)	nonsense	probably null
IGL02212:Psd4	APN	2	24,295,326 (GRCm39)	nonsense	probably null
IGL02240:Psd4	APN	2	24,286,389 (GRCm39)	missense	probably benign	0.00
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

2014-02-04