Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Pdzd9'

688567

Institutional Source

Beutler Lab

Gene Symbol

Pdzd9

Ensembl Gene

ENSMUSG00000030887

Gene Name

PDZ domain containing 9

Synonyms

MMRRC Submission

068880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9054 (G1)

Quality Score

209.009

Status

Validated

Chromosome

Chromosomal Location

120658731-120670343 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 120670275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146476 (fasta)

Gene Model

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

AlphaFold

Q9D9M4

Predicted Effect

probably benign
Transcript: ENSMUST00000033178

SMART Domains

Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,553,674 (GRCm38)	D641E	probably benign	Het
Anln	A	G	9: 22,360,820 (GRCm38)		probably null	Het
Areg	A	T	5: 91,144,358 (GRCm38)	E172D	probably damaging	Het
Ccdc51	A	T	9: 109,089,414 (GRCm38)	T24S	probably benign	Het
Cckar	A	T	5: 53,703,082 (GRCm38)	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,483,477 (GRCm38)		probably benign	Het
Cep295	T	C	9: 15,324,255 (GRCm38)	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,757,255 (GRCm38)	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,942,266 (GRCm38)	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,634,279 (GRCm38)	I406F	probably benign	Het
Eml4	T	A	17: 83,427,211 (GRCm38)		probably benign	Het
Fkrp	G	T	7: 16,810,644 (GRCm38)	T431K	probably damaging	Het
Fsip2	A	T	2: 82,975,836 (GRCm38)	Y833F	possibly damaging	Het
Galnt2	T	C	8: 124,332,098 (GRCm38)		probably null	Het
Gm13101	T	C	4: 143,965,744 (GRCm38)	Q229R	probably benign	Het
Gm8180	T	A	14: 43,782,349 (GRCm38)		probably null	Het
Gm8882	G	C	6: 132,361,893 (GRCm38)	Q121E	unknown	Het
Hcn1	T	C	13: 117,971,635 (GRCm38)	S552P	unknown	Het
Ifit1	A	C	19: 34,648,487 (GRCm38)	E341A	possibly damaging	Het
Iyd	A	G	10: 3,540,250 (GRCm38)		probably benign	Het
Krt72	A	T	15: 101,786,401 (GRCm38)	S20T	probably damaging	Het
Lemd2	G	T	17: 27,204,095 (GRCm38)	D108E	probably benign	Het
Lipn	A	T	19: 34,076,976 (GRCm38)	I205F	possibly damaging	Het
Nat1	G	T	8: 67,491,071 (GRCm38)	R36L	probably benign	Het
Nebl	A	T	2: 17,411,096 (GRCm38)	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,386,783 (GRCm38)	N502I	probably damaging	Het
Nrp1	G	A	8: 128,487,908 (GRCm38)	V626I	probably benign	Het
Olfr160	C	T	9: 37,711,908 (GRCm38)	V124M	probably damaging	Het
Olfr692	A	G	7: 105,368,473 (GRCm38)	Y49C	probably damaging	Het
Oprm1	G	A	10: 6,823,914 (GRCm38)		probably benign	Het
Pde2a	A	G	7: 101,507,720 (GRCm38)	Y637C	probably damaging	Het
Pde4d	T	C	13: 109,935,390 (GRCm38)	V306A	probably damaging	Het
Pitpnm3	T	A	11: 72,056,191 (GRCm38)	D810V	probably damaging	Het
Pkd1l3	A	T	8: 109,665,672 (GRCm38)	H1966L	probably benign	Het
Pmfbp1	C	T	8: 109,521,029 (GRCm38)	T319I	possibly damaging	Het
Psg18	T	A	7: 18,353,525 (GRCm38)	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638 (GRCm38)	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,460,640 (GRCm38)	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,402,716 (GRCm38)	T105A	probably benign	Het
Rbm12	A	T	2: 156,095,561 (GRCm38)	D930E	unknown	Het
Rlf	A	C	4: 121,150,587 (GRCm38)	S509A	possibly damaging	Het
Slc39a3	C	A	10: 81,033,665 (GRCm38)	G53C	probably damaging	Het
Smchd1	G	A	17: 71,363,022 (GRCm38)	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,340,408 (GRCm38)	E52A	unknown	Het
Stat1	A	G	1: 52,142,927 (GRCm38)	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,546,149 (GRCm38)	E64G	probably benign	Het
Ttll11	A	T	2: 35,979,380 (GRCm38)	V82D	probably benign	Het
Ttn	T	A	2: 76,740,633 (GRCm38)	T26639S	probably damaging	Het
Usp53	A	T	3: 122,934,076 (GRCm38)	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,383,554 (GRCm38)	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,391 (GRCm38)	D166N	probably damaging	Het
Zfp954	C	A	7: 7,116,098 (GRCm38)	C149F	probably benign	Het

Other mutations in Pdzd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Pdzd9	APN	7	120,660,271 (GRCm38)	missense	possibly damaging	0.92
IGL01295:Pdzd9	APN	7	120,668,395 (GRCm38)	missense	probably damaging	1.00
IGL02252:Pdzd9	APN	7	120,663,015 (GRCm38)	missense	probably benign	0.00
IGL02393:Pdzd9	APN	7	120,662,983 (GRCm38)	nonsense	probably null
R0826:Pdzd9	UTSW	7	120,668,401 (GRCm38)	missense	probably damaging	0.99
R4130:Pdzd9	UTSW	7	120,662,869 (GRCm38)	missense	possibly damaging	0.81
R4131:Pdzd9	UTSW	7	120,662,869 (GRCm38)	missense	possibly damaging	0.81
R4820:Pdzd9	UTSW	7	120,668,396 (GRCm38)	missense	probably damaging	1.00
R4915:Pdzd9	UTSW	7	120,670,168 (GRCm38)	missense	possibly damaging	0.82
R5883:Pdzd9	UTSW	7	120,668,553 (GRCm38)	missense	possibly damaging	0.60
R6283:Pdzd9	UTSW	7	120,660,226 (GRCm38)	missense	possibly damaging	0.66
R6896:Pdzd9	UTSW	7	120,662,872 (GRCm38)	makesense	probably null
R7017:Pdzd9	UTSW	7	120,663,002 (GRCm38)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GCCCATTTTACAGGAAAGGC -3'
(R):5'- AGCTGGCACTCTGCTCATTC -3'

Sequencing Primer
(F):5'- CAAATCTAGGAAGGCTTGGAACCC -3'
(R):5'- CAAAATCTGGGAAGCAGC -3'

Posted On

2021-11-19