Mutagenetix > Incidental Mutation

Incidental Mutation 'R9364:Pdzd8'

708876

Institutional Source

Beutler Lab

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

A630041P07Rik, Pdzk8

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59296084-59345780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59345142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 149 (L149Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099274]

AlphaFold

B9EJ80

Predicted Effect

probably damaging
Transcript: ENSMUST00000099274
AA Change: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: L149Q

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
PDZ	374	448	2.02e-10	SMART
low complexity region	582	596	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
C1	834	884	8.31e-8	SMART
coiled coil region	1021	1057	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Ccdc136	C	T	6: 29,405,961	A102V	probably damaging	Het
Ccnyl1	A	G	1: 64,714,591	Y187C	probably damaging	Het
Copa	G	A	1: 172,117,264	V882I	probably benign	Het
Cyp17a1	C	T	19: 46,668,726	R361H	probably damaging	Het
Ddx49	T	C	8: 70,293,576	T459A	probably benign	Het
Depdc5	A	G	5: 32,964,732	N1133S	probably benign	Het
Dnajc18	T	C	18: 35,675,207	D329G	probably damaging	Het
Dusp16	G	A	6: 134,719,019	P283L	probably damaging	Het
Efcab12	A	G	6: 115,838,014	V40A	probably benign	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Fam120b	G	A	17: 15,405,758	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,490,489	T9I	probably benign	Het
Hivep1	G	A	13: 42,154,775	D164N	possibly damaging	Het
Klf13	T	A	7: 63,924,861		probably benign	Het
Lrrc47	T	C	4: 154,015,941	S325P	possibly damaging	Het
Mast3	C	T	8: 70,786,182	V493M	probably damaging	Het
Med22	T	C	2: 26,905,809	T200A	probably benign	Het
Mettl15	T	A	2: 109,131,615	Q216H	probably benign	Het
Mmel1	A	G	4: 154,892,510	D561G	probably null	Het
Ms4a4a	G	A	19: 11,390,344	M191I	probably benign	Het
Myh11	T	A	16: 14,200,716	N1922I		Het
Myo7b	T	C	18: 32,000,360	I371V	probably benign	Het
Myo9b	T	C	8: 71,355,839	S1697P	probably damaging	Het
Neurod4	T	C	10: 130,270,971	T145A	probably benign	Het
Nfx1	T	C	4: 41,023,756	V1055A	probably benign	Het
Ntng1	C	T	3: 110,135,364	A49T	probably damaging	Het
Oc90	G	A	15: 65,889,588	P194S	probably benign	Het
Olfr1087	A	T	2: 86,690,231	V248D	possibly damaging	Het
Olfr1375	T	A	11: 51,048,396	Y96*	probably null	Het
Olfr169	T	A	16: 19,565,972	I304F	possibly damaging	Het
Olfr446	T	A	6: 42,927,600	I123N	probably damaging	Het
Opcml	A	C	9: 28,903,328	N292T	probably damaging	Het
Oplah	A	G	15: 76,309,587	S57P	probably benign	Het
Pid1	A	G	1: 84,159,311	V33A	probably benign	Het
Prpsap1	A	G	11: 116,494,189		probably benign	Het
R3hdml	T	C	2: 163,492,615	W42R	probably benign	Het
Rnase6	A	T	14: 51,130,405	N85Y	possibly damaging	Het
Scn3a	T	A	2: 65,461,252	M1717L	possibly damaging	Het
Setbp1	C	T	18: 78,783,384	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,224,152	T389A	probably benign	Het
Sh2d4a	G	A	8: 68,294,366	G82D	probably damaging	Het
Skint9	A	T	4: 112,391,718	M171K	probably benign	Het
Slc5a11	C	T	7: 123,269,101	R505W	probably damaging	Het
Slx4	C	A	16: 3,987,956	M577I	probably benign	Het
Soga3	G	A	10: 29,196,779	R689Q	probably damaging	Het
Tarbp1	C	T	8: 126,450,723	V737I	probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem100	A	T	11: 90,035,707	E120V	probably damaging	Het
Trim72	C	T	7: 128,010,001	T325M	possibly damaging	Het
Trpc2	G	A	7: 102,090,612	G581D	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ubn1	T	C	16: 5,070,628	S154P	unknown	Het
Uchl1	T	A	5: 66,676,306	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,219,819	M1K	probably null	Het
Wisp1	G	A	15: 66,913,051	R191K	probably benign	Het
Zfp429	T	A	13: 67,390,412	K304N	probably benign	Het
Zfp618	A	G	4: 63,118,587	N375D	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp78	A	T	7: 6,379,355	D468V	probably benign	Het
Zfp809	A	C	9: 22,239,098	Y297S	probably damaging	Het

Other mutations in Pdzd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Pdzd8	APN	19	59299786	missense	probably damaging	1.00
IGL01321:Pdzd8	APN	19	59301529	missense	probably benign
IGL01865:Pdzd8	APN	19	59299645	missense	possibly damaging	0.92
IGL02044:Pdzd8	APN	19	59315292	missense	possibly damaging	0.85
IGL02119:Pdzd8	APN	19	59300490	missense	possibly damaging	0.95
IGL02186:Pdzd8	APN	19	59300628	missense	probably damaging	1.00
IGL02389:Pdzd8	APN	19	59301393	missense	probably benign	0.00
IGL02479:Pdzd8	APN	19	59299783	nonsense	probably null
IGL02713:Pdzd8	APN	19	59345458	missense	probably damaging	0.98
IGL02958:Pdzd8	APN	19	59300372	nonsense	probably null
IGL02966:Pdzd8	APN	19	59300859	missense	probably damaging	1.00
IGL03166:Pdzd8	APN	19	59300508	missense	probably damaging	1.00
citadel	UTSW	19	59299525	makesense	probably null
Eleventh_hour	UTSW	19	59305230	missense	probably damaging	1.00
keep	UTSW	19	59301351	nonsense	probably null
Stronghold	UTSW	19	59345352	nonsense	probably null
R0018:Pdzd8	UTSW	19	59300673	missense	probably damaging	1.00
R0038:Pdzd8	UTSW	19	59299596	missense	possibly damaging	0.54
R0196:Pdzd8	UTSW	19	59301131	missense	probably benign	0.00
R0233:Pdzd8	UTSW	19	59300379	missense	probably damaging	0.99
R0233:Pdzd8	UTSW	19	59300379	missense	probably damaging	0.99
R0418:Pdzd8	UTSW	19	59300929	missense	probably damaging	1.00
R0736:Pdzd8	UTSW	19	59344933	missense	probably damaging	0.99
R1456:Pdzd8	UTSW	19	59300472	missense	probably benign	0.01
R1709:Pdzd8	UTSW	19	59301339	missense	probably benign
R1965:Pdzd8	UTSW	19	59300122	missense	probably benign	0.37
R2155:Pdzd8	UTSW	19	59300421	missense	probably damaging	1.00
R3077:Pdzd8	UTSW	19	59305156	critical splice donor site	probably null
R3411:Pdzd8	UTSW	19	59345413	missense	probably damaging	1.00
R4345:Pdzd8	UTSW	19	59300128	missense	probably benign	0.00
R4354:Pdzd8	UTSW	19	59345481	missense	probably benign
R4504:Pdzd8	UTSW	19	59345448	missense	probably damaging	1.00
R4642:Pdzd8	UTSW	19	59305230	missense	probably damaging	1.00
R4705:Pdzd8	UTSW	19	59345311	missense	possibly damaging	0.80
R4773:Pdzd8	UTSW	19	59300860	missense	probably damaging	1.00
R4876:Pdzd8	UTSW	19	59300804	nonsense	probably null
R5176:Pdzd8	UTSW	19	59344957	missense	probably damaging	1.00
R5267:Pdzd8	UTSW	19	59301026	missense	probably damaging	1.00
R5707:Pdzd8	UTSW	19	59299625	missense	probably benign	0.00
R5766:Pdzd8	UTSW	19	59300540	missense	possibly damaging	0.65
R5903:Pdzd8	UTSW	19	59345286	missense	possibly damaging	0.58
R6036:Pdzd8	UTSW	19	59305209	missense	probably damaging	1.00
R6036:Pdzd8	UTSW	19	59305209	missense	probably damaging	1.00
R6238:Pdzd8	UTSW	19	59300562	missense	probably benign	0.05
R6360:Pdzd8	UTSW	19	59300983	missense	probably benign	0.10
R6509:Pdzd8	UTSW	19	59344866	missense	probably benign	0.01
R6674:Pdzd8	UTSW	19	59301369	missense	probably damaging	1.00
R6808:Pdzd8	UTSW	19	59299525	makesense	probably null
R6902:Pdzd8	UTSW	19	59301397	missense	possibly damaging	0.91
R7017:Pdzd8	UTSW	19	59345352	nonsense	probably null
R7088:Pdzd8	UTSW	19	59344957	missense	probably damaging	1.00
R7116:Pdzd8	UTSW	19	59299693	missense	probably damaging	1.00
R7158:Pdzd8	UTSW	19	59300157	missense	probably damaging	1.00
R7237:Pdzd8	UTSW	19	59345139	missense	probably damaging	1.00
R7251:Pdzd8	UTSW	19	59300645	missense	possibly damaging	0.96
R7314:Pdzd8	UTSW	19	59301351	nonsense	probably null
R7699:Pdzd8	UTSW	19	59344941	missense	probably damaging	1.00
R7751:Pdzd8	UTSW	19	59344776	missense	probably damaging	0.98
R7759:Pdzd8	UTSW	19	59299926	missense	probably damaging	1.00
R7784:Pdzd8	UTSW	19	59327863	missense	probably damaging	1.00
R7917:Pdzd8	UTSW	19	59345086	missense	probably damaging	0.96
R9368:Pdzd8	UTSW	19	59300787	nonsense	probably null
R9406:Pdzd8	UTSW	19	59344813	missense
R9548:Pdzd8	UTSW	19	59301394	missense	probably benign	0.13
R9554:Pdzd8	UTSW	19	59345142	missense	probably damaging	1.00
R9688:Pdzd8	UTSW	19	59345251	missense	probably benign	0.05
R9750:Pdzd8	UTSW	19	59301252	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTCAATCAGCGGGTCCTC -3'
(R):5'- GACCTGCTACTTCCTCAACG -3'

Sequencing Primer
(F):5'- CAGCTTCACGAACAGGTAGGC -3'
(R):5'- AACGCCACCATCCTGTTCCTG -3'

Posted On

2022-04-18