Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Pdzd8'

557477

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 #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59296084-59345780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59300157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 937 (R937H)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026084] [ENSMUST00000099274]

AlphaFold

B9EJ80

Predicted Effect

probably benign
Transcript: ENSMUST00000026084

SMART Domains

Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	428	6.8e-40	PFAM
Pfam:Sugar_tr	26	284	5.9e-10	PFAM
Pfam:MFS_2	127	457	4.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099274
AA Change: R937H

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

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: R937H

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,273,982	M454L	probably benign	Het
Abca8b	T	A	11: 109,934,589	E1595V	probably damaging	Het
Actr5	T	A	2: 158,626,414	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,194,058	V73E	probably benign	Het
Add2	T	C	6: 86,085,952	Y31H	probably damaging	Het
Akap13	G	T	7: 75,579,594	V92F	probably damaging	Het
Alox8	T	A	11: 69,185,870	M568L	probably benign	Het
Birc6	A	T	17: 74,594,376	E1145V	probably benign	Het
Cacng1	A	T	11: 107,703,839	M166K	probably damaging	Het
Ces1f	A	G	8: 93,268,016	F256L	probably benign	Het
Clpb	A	G	7: 101,663,832	R8G	probably benign	Het
Col6a5	A	G	9: 105,864,208	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,179,184	D93G	probably benign	Het
Cry2	A	T	2: 92,413,715	I371N	probably damaging	Het
Ddx43	A	C	9: 78,412,219	Q276H	probably damaging	Het
Dock10	T	C	1: 80,586,872		probably null	Het
Dst	A	G	1: 34,274,285	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,790	T459A	probably benign	Het
Gm10097	C	T	10: 5,069,407	A72V	unknown	Het
Hydin	A	G	8: 110,609,671	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,421,022	L22*	probably null	Het
Kat8	G	A	7: 127,922,159	G228S	probably benign	Het
Kif15	T	A	9: 122,999,314	S897T	probably benign	Het
Kndc1	A	G	7: 139,931,860	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,951,806	D225V	probably benign	Het
Lama3	A	T	18: 12,456,812	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121	T2580K	probably benign	Het
Mest	T	C	6: 30,744,914	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,526,869	F470L	probably benign	Het
Nfic	C	T	10: 81,420,605	R75Q	probably damaging	Het
Nme2	G	A	11: 93,955,658		probably benign	Het
Nrg4	A	G	9: 55,242,100	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,379,742	E365K	possibly damaging	Het
Pappa	T	C	4: 65,204,867	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,720,885	E111G	probably damaging	Het
Per1	T	G	11: 69,104,104		probably benign	Het
Pex2	A	G	3: 5,561,336	F138L	probably benign	Het
Pold1	A	T	7: 44,538,866	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,152,038	I316V		Het
Prom1	A	C	5: 44,012,913	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,152,553	K481E	probably damaging	Het
Prrg4	A	T	2: 104,832,613	V216E	probably damaging	Het
Ptch2	C	T	4: 117,114,784	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,918,637	E118*	probably null	Het
R3hcc1l	C	T	19: 42,583,429	P716S	probably damaging	Het
Rasa4	A	G	5: 136,102,021	E382G	probably damaging	Het
Rbp3	T	A	14: 33,955,556	M487K	probably benign	Het
Rsad2	A	T	12: 26,450,780		probably null	Het
Shmt1	T	C	11: 60,790,242	I353V	probably benign	Het
Shprh	C	T	10: 11,166,730	T819I	probably damaging	Het
Skap1	T	A	11: 96,526,057	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,573,741	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,401,231	T165A	probably damaging	Het
Smchd1	A	C	17: 71,400,150	I941R	probably damaging	Het
Syne1	C	A	10: 5,057,931	V98F	probably damaging	Het
Tcaim	A	G	9: 122,818,990	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,036,366	E816D	probably benign	Het
Tmem132d	T	C	5: 128,137,019	K326E	possibly damaging	Het
Uhrf1bp1	T	A	17: 27,886,433	C644*	probably null	Het
Usp35	T	C	7: 97,325,964	M1V	probably null	Het
Wdr62	C	T	7: 30,270,738	V215I	possibly damaging	Het
Zan	T	C	5: 137,400,644	T4153A	unknown	Het
Zfp239	G	T	6: 117,871,729	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679	D1460G	probably benign	Het
Zfp647	C	T	15: 76,917,305	G90R	probably benign	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
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
R9364:Pdzd8	UTSW	19	59345142	missense	probably damaging	1.00
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'- AGCCTCTGTACAGATCACGAC -3'
(R):5'- CACCTCTTTGTGGAGCAACTG -3'

Sequencing Primer
(F):5'- TCTGTACAGATCACGACCAATTTC -3'
(R):5'- CTTTGTGGAGCAACTGAGAGGC -3'

Posted On

2019-06-26