Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00813:Ino80d'

12678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ino80d

Ensembl Gene

ENSMUSG00000040865

Gene Name

INO80 complex subunit D

Synonyms

A430093A21Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

IGL00813

Quality Score

Status

Chromosome

Chromosomal Location

62958418-63114667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63093303 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 67 (P67L)

Ref Sequence

ENSEMBL: ENSMUSP00000130864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097718] [ENSMUST00000133236] [ENSMUST00000137511] [ENSMUST00000153992] [ENSMUST00000165066] [ENSMUST00000172416]

Predicted Effect

probably benign
Transcript: ENSMUST00000097718

SMART Domains

Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865

Domain	Start	End	E-Value	Type
low complexity region	91	101	N/A	INTRINSIC
low complexity region	153	158	N/A	INTRINSIC
low complexity region	249	260	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
Pfam:zf-C3Hc3H	336	402	1.2e-22	PFAM
low complexity region	414	459	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC
low complexity region	647	666	N/A	INTRINSIC
low complexity region	706	722	N/A	INTRINSIC
low complexity region	802	821	N/A	INTRINSIC
low complexity region	890	911	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133236

SMART Domains

Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865

Domain	Start	End	E-Value	Type
low complexity region	91	101	N/A	INTRINSIC
low complexity region	153	158	N/A	INTRINSIC
low complexity region	249	260	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
Pfam:zf-C3Hc3H	337	401	4.3e-20	PFAM
low complexity region	414	459	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC
low complexity region	647	666	N/A	INTRINSIC
low complexity region	706	722	N/A	INTRINSIC
low complexity region	802	821	N/A	INTRINSIC
low complexity region	890	911	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137511

SMART Domains

Protein: ENSMUSP00000119118
Gene: ENSMUSG00000040865

Domain	Start	End	E-Value	Type
low complexity region	91	101	N/A	INTRINSIC
low complexity region	153	158	N/A	INTRINSIC
low complexity region	249	260	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
Pfam:zf-C3Hc3H	336	402	4.3e-23	PFAM
low complexity region	414	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153992

SMART Domains

Protein: ENSMUSP00000115332
Gene: ENSMUSG00000040865

Domain	Start	End	E-Value	Type
low complexity region	91	101	N/A	INTRINSIC
low complexity region	153	158	N/A	INTRINSIC
low complexity region	249	260	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
Pfam:zf-C3Hc3H	336	402	4.3e-23	PFAM
low complexity region	414	431	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165066
AA Change: P67L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: P67L

Domain	Start	End	E-Value	Type
Pfam:zf-C3Hc3H	18	79	5.9e-21	PFAM
low complexity region	196	206	N/A	INTRINSIC
low complexity region	258	263	N/A	INTRINSIC
low complexity region	354	365	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
Pfam:zf-C3Hc3H	442	506	7e-21	PFAM
low complexity region	519	564	N/A	INTRINSIC
low complexity region	640	654	N/A	INTRINSIC
low complexity region	752	771	N/A	INTRINSIC
low complexity region	811	827	N/A	INTRINSIC
low complexity region	907	926	N/A	INTRINSIC
low complexity region	995	1016	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172416

SMART Domains

Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865

Domain	Start	End	E-Value	Type
low complexity region	91	101	N/A	INTRINSIC
low complexity region	153	158	N/A	INTRINSIC
low complexity region	249	260	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
Pfam:zf-C3Hc3H	336	402	1.2e-22	PFAM
low complexity region	414	459	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC
low complexity region	647	666	N/A	INTRINSIC
low complexity region	706	722	N/A	INTRINSIC
low complexity region	802	821	N/A	INTRINSIC
low complexity region	890	911	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,353,762		probably null	Het
Aco1	T	C	4: 40,180,290		probably null	Het
Bloc1s5	T	C	13: 38,619,182	N76S	probably damaging	Het
Cyp3a44	A	T	5: 145,774,347	*505R	probably null	Het
Epor	T	C	9: 21,960,591	T253A	possibly damaging	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Gm884	A	C	11: 103,614,498	F2215V	probably benign	Het
Hecw1	T	A	13: 14,278,376		probably null	Het
Hhla1	A	T	15: 65,941,961	V209E	probably damaging	Het
Lysmd3	C	A	13: 81,665,242	N76K	probably damaging	Het
Map10	G	A	8: 125,671,932	R688Q	probably benign	Het
Mars	A	T	10: 127,300,047	M554K	probably damaging	Het
Mgat5	G	A	1: 127,384,806	M227I	probably benign	Het
Nup210l	A	G	3: 90,132,418	I389V	probably benign	Het
Ppp1r16b	A	G	2: 158,756,965	K315R	probably damaging	Het
Rae1	A	G	2: 173,006,933	D114G	probably damaging	Het
Rbms1	T	C	2: 60,797,705	K64E	probably damaging	Het
Shox2	C	A	3: 66,975,444	Q105H	probably damaging	Het
Simc1	C	A	13: 54,546,986	F293L	probably damaging	Het
Slc11a1	A	G	1: 74,383,480	I289V	probably benign	Het
Slit2	G	A	5: 47,989,151	E95K	possibly damaging	Het
Stk32a	T	A	18: 43,310,520	V254E	probably benign	Het
Them5	A	G	3: 94,343,288	K53E	probably damaging	Het
Tmem67	T	C	4: 12,058,587		probably benign	Het
Wdr7	T	A	18: 63,735,604	L248Q	possibly damaging	Het

Other mutations in Ino80d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01552:Ino80d	APN	1	63057977	utr 3 prime	probably benign
IGL01960:Ino80d	APN	1	63058147	missense	probably damaging	0.98
IGL02374:Ino80d	APN	1	63086061	missense	possibly damaging	0.63
IGL03201:Ino80d	APN	1	63058308	missense	probably damaging	1.00
IGL03248:Ino80d	APN	1	63068182	critical splice donor site	probably null
Creepy	UTSW	1	63079047	missense	possibly damaging	0.88
Friable	UTSW	1	63062126	missense	probably damaging	1.00
Herpes	UTSW	1	63065834	missense	probably damaging	1.00
PIT4696001:Ino80d	UTSW	1	63085986	missense	probably benign
R0153:Ino80d	UTSW	1	63058318	missense	probably damaging	0.97
R0371:Ino80d	UTSW	1	63057956	utr 3 prime	probably benign
R0416:Ino80d	UTSW	1	63086276	missense	possibly damaging	0.93
R1738:Ino80d	UTSW	1	63093465	missense	probably damaging	1.00
R2341:Ino80d	UTSW	1	63065826	missense	possibly damaging	0.75
R2351:Ino80d	UTSW	1	63085835	missense	probably benign	0.00
R2870:Ino80d	UTSW	1	63061039	critical splice donor site	probably null
R2870:Ino80d	UTSW	1	63061039	critical splice donor site	probably null
R3814:Ino80d	UTSW	1	63074424	missense	probably benign	0.05
R3828:Ino80d	UTSW	1	63062078	missense	possibly damaging	0.94
R3947:Ino80d	UTSW	1	63074503	missense	probably benign	0.16
R3949:Ino80d	UTSW	1	63074503	missense	probably benign	0.16
R5180:Ino80d	UTSW	1	63086329	start gained	probably benign
R5301:Ino80d	UTSW	1	63074419	missense	probably benign
R5338:Ino80d	UTSW	1	63058939	missense	probably benign	0.34
R5634:Ino80d	UTSW	1	63062283	intron	probably benign
R5716:Ino80d	UTSW	1	63058697	missense	probably benign	0.01
R5841:Ino80d	UTSW	1	63058840	missense	probably damaging	1.00
R6219:Ino80d	UTSW	1	63079047	missense	possibly damaging	0.88
R6222:Ino80d	UTSW	1	63058525	missense	probably damaging	0.99
R6283:Ino80d	UTSW	1	63062126	missense	probably damaging	1.00
R6720:Ino80d	UTSW	1	63058610	missense	probably damaging	1.00
R6835:Ino80d	UTSW	1	63074326	missense	probably benign
R6897:Ino80d	UTSW	1	63065834	missense	probably damaging	1.00
R7162:Ino80d	UTSW	1	63065735	missense	probably damaging	1.00
R7403:Ino80d	UTSW	1	63062219	missense	possibly damaging	0.52
R7644:Ino80d	UTSW	1	63058771	missense	probably benign	0.18
R7816:Ino80d	UTSW	1	63086397	missense	probably damaging	1.00

Posted On

2012-12-06