Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02393:Pdzd9'

293897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzd9

Ensembl Gene

ENSMUSG00000030887

Gene Name

PDZ domain containing 9

Synonyms

4930408O21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02393

Quality Score

Status

Chromosome

Chromosomal Location

120257954-120269566 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 120262206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 85 (Y85*)

Ref Sequence

ENSEMBL: ENSMUSP00000033178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033176] [ENSMUST00000033178] [ENSMUST00000127845] [ENSMUST00000208635]

AlphaFold

Q9D9M4

PDB Structure

The solution structure of RSGI RUH-020, a PDZ domain of hypothetical protein from mouse [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000033176

SMART Domains

Protein: ENSMUSP00000033176
Gene: ENSMUSG00000030884

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	48	194	3.2e-33	PFAM
Pfam:Peptidase_M16_C	199	378	2.2e-26	PFAM
low complexity region	417	430	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000033178
AA Change: Y85*

SMART Domains

Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887
AA Change: Y85*

Domain	Start	End	E-Value	Type
PDZ	38	111	2.97e-8	SMART
low complexity region	231	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127845

Predicted Effect

probably benign
Transcript: ENSMUST00000208635

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,410,069 (GRCm39)	Y129N	probably damaging	Het
Afap1l2	T	C	19: 56,902,872 (GRCm39)	K695R	probably damaging	Het
Arhgap18	T	G	10: 26,753,179 (GRCm39)	S357R	probably benign	Het
Camsap1	T	C	2: 25,828,334 (GRCm39)	H1130R	probably benign	Het
Cdkl4	A	G	17: 80,867,844 (GRCm39)	F35L	probably damaging	Het
Crnn	A	G	3: 93,056,675 (GRCm39)	H487R	probably damaging	Het
Dcaf4	C	T	12: 83,576,805 (GRCm39)	P95L	probably damaging	Het
Deaf1	A	T	7: 140,893,246 (GRCm39)	V382E	possibly damaging	Het
Dph7	T	G	2: 24,856,609 (GRCm39)	V187G	possibly damaging	Het
Fat3	G	T	9: 15,899,708 (GRCm39)	C3108*	probably null	Het
Ggt5	T	C	10: 75,446,071 (GRCm39)		probably benign	Het
Kif26a	G	A	12: 112,139,098 (GRCm39)	V396M	probably damaging	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mterf4	C	T	1: 93,230,601 (GRCm39)	V182I	possibly damaging	Het
Nsg1	T	C	5: 38,316,255 (GRCm39)	D32G	probably damaging	Het
Or5k8	A	G	16: 58,644,409 (GRCm39)	I221T	probably damaging	Het
Or6c3	T	C	10: 129,309,064 (GRCm39)	S168P	probably damaging	Het
Or6c65	T	A	10: 129,603,662 (GRCm39)	V99E	probably benign	Het
P3h2	T	C	16: 25,811,575 (GRCm39)	Y216C	probably damaging	Het
Prkdc	T	A	16: 15,634,622 (GRCm39)	V3589D	probably benign	Het
Qars1	A	G	9: 108,391,528 (GRCm39)	T26A	probably benign	Het
Relch	A	G	1: 105,615,093 (GRCm39)	I253M	probably damaging	Het
Rhd	T	C	4: 134,611,406 (GRCm39)	S189P	probably benign	Het
Rhobtb1	A	T	10: 69,124,817 (GRCm39)	H555L	probably damaging	Het
Rogdi	G	A	16: 4,827,088 (GRCm39)	S306F	probably benign	Het
Slc25a25	C	T	2: 32,307,855 (GRCm39)	V259I	probably benign	Het
Srrm1	A	T	4: 135,048,725 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,840,154 (GRCm39)	V408A	probably benign	Het
Thbs1	T	C	2: 117,953,580 (GRCm39)	V999A	possibly damaging	Het
Tmprss11d	T	A	5: 86,451,471 (GRCm39)	*280L	probably null	Het
Trim54	A	G	5: 31,289,324 (GRCm39)		probably benign	Het
Tspear	G	A	10: 77,672,407 (GRCm39)	R202H	probably damaging	Het
Vwa8	G	A	14: 79,420,417 (GRCm39)	G1706D	probably damaging	Het

Other mutations in Pdzd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Pdzd9	APN	7	120,259,494 (GRCm39)	missense	possibly damaging	0.92
IGL01295:Pdzd9	APN	7	120,267,618 (GRCm39)	missense	probably damaging	1.00
IGL02252:Pdzd9	APN	7	120,262,238 (GRCm39)	missense	probably benign	0.00
R0826:Pdzd9	UTSW	7	120,267,624 (GRCm39)	missense	probably damaging	0.99
R4130:Pdzd9	UTSW	7	120,262,092 (GRCm39)	missense	possibly damaging	0.81
R4131:Pdzd9	UTSW	7	120,262,092 (GRCm39)	missense	possibly damaging	0.81
R4820:Pdzd9	UTSW	7	120,267,619 (GRCm39)	missense	probably damaging	1.00
R4915:Pdzd9	UTSW	7	120,269,391 (GRCm39)	missense	possibly damaging	0.82
R5883:Pdzd9	UTSW	7	120,267,776 (GRCm39)	missense	possibly damaging	0.60
R6283:Pdzd9	UTSW	7	120,259,449 (GRCm39)	missense	possibly damaging	0.66
R6896:Pdzd9	UTSW	7	120,262,095 (GRCm39)	makesense	probably null
R7017:Pdzd9	UTSW	7	120,262,225 (GRCm39)	missense	probably benign	0.23
R9054:Pdzd9	UTSW	7	120,269,498 (GRCm39)	start gained	probably benign

Posted On

2015-04-16