Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Pdzd9'

454522

Institutional Source

Beutler Lab

Gene Symbol

Pdzd9

Ensembl Gene

ENSMUSG00000030887

Gene Name

PDZ domain containing 9

Synonyms

4930408O21Rik

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

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

Stock #

R5883 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

120257954-120269566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120267776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 13 (E13V)

Ref Sequence

ENSEMBL: ENSMUSP00000146476 (fasta)

Gene Model

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

AlphaFold

Q9D9M4

Predicted Effect

probably benign
Transcript: ENSMUST00000033178
AA Change: E13V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033178
Gene: ENSMUSG00000030887
AA Change: E13V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127845
AA Change: E13V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208075

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208635
AA Change: E13V

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,993 (GRCm39)	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256 (GRCm39)	I168V	possibly damaging	Het
Ambn	T	A	5: 88,615,688 (GRCm39)	Y372*	probably null	Het
Ano3	T	A	2: 110,711,209 (GRCm39)	E85V	probably null	Het
Bmf	C	T	2: 118,377,447 (GRCm39)		silent	Het
Bmper	T	A	9: 23,317,970 (GRCm39)	S530T	probably benign	Het
Bop1	T	C	15: 76,339,049 (GRCm39)	D383G	probably damaging	Het
Bub1b	T	A	2: 118,440,363 (GRCm39)	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,595,896 (GRCm39)	V1987A	probably benign	Het
Cd84	T	C	1: 171,700,405 (GRCm39)	V174A	possibly damaging	Het
Cep290	T	A	10: 100,359,261 (GRCm39)	L997Q	probably benign	Het
Chil4	C	T	3: 106,117,886 (GRCm39)	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314 (GRCm39)	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,943,879 (GRCm39)	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,824,008 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,369,711 (GRCm39)	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,806,185 (GRCm39)		probably benign	Het
Gm6264	G	A	1: 85,148,903 (GRCm39)		probably benign	Het
Has2	T	A	15: 56,531,459 (GRCm39)	I419F	possibly damaging	Het
Hscb	A	G	5: 110,987,444 (GRCm39)	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,323,183 (GRCm39)	S4G	probably benign	Het
Islr2	G	T	9: 58,105,998 (GRCm39)	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,715,059 (GRCm39)	I156V	possibly damaging	Het
Klk1b24	A	G	7: 43,839,787 (GRCm39)	I49V	probably benign	Het
Krt90	C	T	15: 101,461,654 (GRCm39)		probably benign	Het
Larp1	C	T	11: 57,933,125 (GRCm39)	S243F	probably damaging	Het
Lrp4	T	C	2: 91,318,778 (GRCm39)	Y872H	probably benign	Het
Maip1	T	C	1: 57,446,260 (GRCm39)	M110T	probably damaging	Het
Marchf7	G	A	2: 60,064,786 (GRCm39)	R354Q	probably damaging	Het
Med12l	G	T	3: 58,998,889 (GRCm39)	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,110,049 (GRCm39)		probably null	Het
Or2j6	T	A	7: 139,980,101 (GRCm39)	Y286F	probably damaging	Het
Or5ac25	A	T	16: 59,182,078 (GRCm39)	C168S	probably damaging	Het
Or5p66	C	T	7: 107,885,451 (GRCm39)	S294N	probably damaging	Het
Ppip5k2	C	T	1: 97,635,535 (GRCm39)	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,533,778 (GRCm39)	Q1539K	probably benign	Het
Rad54l	C	G	4: 115,956,243 (GRCm39)		probably benign	Het
Ric1	T	A	19: 29,573,389 (GRCm39)	I943N	probably damaging	Het
Rif1	T	A	2: 51,995,651 (GRCm39)		probably null	Het
Rpl12	T	C	2: 32,852,536 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,860,637 (GRCm39)		probably benign	Het
Scarb1	C	A	5: 125,417,971 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,040,463 (GRCm39)	E359G	probably damaging	Het
Taf5	A	G	19: 47,056,228 (GRCm39)	T9A	unknown	Het
Tmem128	C	T	5: 38,423,885 (GRCm39)	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444 (GRCm39)	V453G	probably benign	Het
Ubxn4	T	A	1: 128,183,867 (GRCm39)	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,743,786 (GRCm39)	Y483F	probably benign	Het
Xkr5	A	G	8: 18,990,806 (GRCm39)	S154P	probably damaging	Het
Zfp687	T	C	3: 94,919,355 (GRCm39)	N139S	probably benign	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
IGL02393:Pdzd9	APN	7	120,262,206 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGACTCTCTGAAGGCAGGTG -3'
(R):5'- CCGTACAACAGCCCTTTACCTG -3'

Sequencing Primer
(F):5'- AACCACGGTCACCTGGCTG -3'
(R):5'- ACAACAGCCCTTTACCTGTCCTG -3'

Posted On

2017-02-10