Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Ino80d'

399670

Institutional Source

Beutler Lab

Gene Symbol

Ino80d

Ensembl Gene

ENSMUSG00000040865

Gene Name

INO80 complex subunit D

Synonyms

A430093A21Rik

MMRRC Submission

042760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63086960-63153693 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 63125488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127378 (fasta)

Gene Model

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

AlphaFold

Q66JY2

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

silent
Transcript: ENSMUST00000165066

SMART Domains

Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,416,510 (GRCm39)	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,431,535 (GRCm39)		probably benign	Het
Ago3	C	T	4: 126,261,544 (GRCm39)	V435I	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ampd2	G	T	3: 107,986,358 (GRCm39)	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,587,789 (GRCm39)	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,296,695 (GRCm39)	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,773,156 (GRCm39)	V152M	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,243,416 (GRCm39)	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,909,714 (GRCm39)	I104F	probably benign	Het
Daam1	A	G	12: 71,993,899 (GRCm39)	N434S	unknown	Het
Dab2ip	C	T	2: 35,610,503 (GRCm39)	P782L	possibly damaging	Het
Dhx34	C	A	7: 15,939,405 (GRCm39)	G663*	probably null	Het
Dnah7a	T	C	1: 53,462,446 (GRCm39)	D3715G	probably damaging	Het
Dnajc11	C	T	4: 152,054,396 (GRCm39)	R201C	probably damaging	Het
Erf	A	T	7: 24,945,690 (GRCm39)	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,507 (GRCm39)	Y380F	probably damaging	Het
Gm3336	A	G	8: 71,173,110 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5134	T	C	10: 75,812,200 (GRCm39)	Y152H	probably damaging	Het
Gm6899	A	G	11: 26,543,795 (GRCm39)		probably benign	Het
Gna11	T	C	10: 81,380,707 (GRCm39)	K19E	probably benign	Het
Gpr15	C	A	16: 58,538,248 (GRCm39)	L280F	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Irak3	T	G	10: 119,981,687 (GRCm39)	K406T	probably damaging	Het
Kif15	G	A	9: 122,828,275 (GRCm39)	C634Y	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Macrod2	A	T	2: 140,237,636 (GRCm39)	E14V	probably damaging	Het
Matn3	T	A	12: 9,005,374 (GRCm39)	D261E	probably benign	Het
Mdga1	A	T	17: 30,076,710 (GRCm39)		probably benign	Het
Natd1	G	T	11: 60,804,482 (GRCm39)	R24S	probably benign	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Or5b101	A	T	19: 13,004,776 (GRCm39)	S306T	probably benign	Het
Parp9	T	A	16: 35,774,106 (GRCm39)	Y81*	probably null	Het
Pde4d	A	G	13: 109,877,007 (GRCm39)	N73S	probably benign	Het
Pigb	A	T	9: 72,941,872 (GRCm39)	I129N	probably damaging	Het
Plxnb1	C	A	9: 108,940,761 (GRCm39)		probably null	Het
Ppfibp1	G	T	6: 146,928,819 (GRCm39)	R813L	probably damaging	Het
Ramp3	T	A	11: 6,608,619 (GRCm39)	L16Q	unknown	Het
Slc35a4	T	C	18: 36,815,688 (GRCm39)	S173P	probably benign	Het
Slc41a1	T	C	1: 131,772,115 (GRCm39)	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,323,231 (GRCm39)		probably benign	Het
Snph	G	A	2: 151,442,307 (GRCm39)	R43W	probably benign	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Supt20	C	A	3: 54,616,506 (GRCm39)	H254Q	probably benign	Het
Taar7a	A	G	10: 23,869,046 (GRCm39)	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,745,008 (GRCm39)	Y206C	probably damaging	Het
Tecta	A	G	9: 42,248,504 (GRCm39)	V1961A	probably damaging	Het
Tgfbr1	T	A	4: 47,383,948 (GRCm39)	Y30*	probably null	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tnfrsf1b	C	A	4: 144,954,067 (GRCm39)	C94F	probably damaging	Het
Ttn	A	G	2: 76,579,740 (GRCm39)	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,484,268 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,478,391 (GRCm39)	V49F	probably benign	Het
Vps45	A	G	3: 95,953,683 (GRCm39)	I223T	possibly damaging	Het
Zfp955a	T	C	17: 33,461,592 (GRCm39)	Y180C	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Zscan18	T	A	7: 12,509,216 (GRCm39)		probably benign	Het

Other mutations in Ino80d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Ino80d	APN	1	63,132,462 (GRCm39)	missense	probably damaging	1.00
IGL01552:Ino80d	APN	1	63,097,136 (GRCm39)	utr 3 prime	probably benign
IGL01960:Ino80d	APN	1	63,097,306 (GRCm39)	missense	probably damaging	0.98
IGL02374:Ino80d	APN	1	63,125,220 (GRCm39)	missense	possibly damaging	0.63
IGL03201:Ino80d	APN	1	63,097,467 (GRCm39)	missense	probably damaging	1.00
IGL03248:Ino80d	APN	1	63,107,341 (GRCm39)	critical splice donor site	probably null
Creepy	UTSW	1	63,118,206 (GRCm39)	missense	possibly damaging	0.88
Friable	UTSW	1	63,101,285 (GRCm39)	missense	probably damaging	1.00
Herpes	UTSW	1	63,104,993 (GRCm39)	missense	probably damaging	1.00
PIT4696001:Ino80d	UTSW	1	63,125,145 (GRCm39)	missense	probably benign
R0153:Ino80d	UTSW	1	63,097,477 (GRCm39)	missense	probably damaging	0.97
R0371:Ino80d	UTSW	1	63,097,115 (GRCm39)	utr 3 prime	probably benign
R0416:Ino80d	UTSW	1	63,125,435 (GRCm39)	missense	possibly damaging	0.93
R1738:Ino80d	UTSW	1	63,132,624 (GRCm39)	missense	probably damaging	1.00
R2341:Ino80d	UTSW	1	63,104,985 (GRCm39)	missense	possibly damaging	0.75
R2351:Ino80d	UTSW	1	63,124,994 (GRCm39)	missense	probably benign	0.00
R2870:Ino80d	UTSW	1	63,100,198 (GRCm39)	critical splice donor site	probably null
R2870:Ino80d	UTSW	1	63,100,198 (GRCm39)	critical splice donor site	probably null
R3814:Ino80d	UTSW	1	63,113,583 (GRCm39)	missense	probably benign	0.05
R3828:Ino80d	UTSW	1	63,101,237 (GRCm39)	missense	possibly damaging	0.94
R3947:Ino80d	UTSW	1	63,113,662 (GRCm39)	missense	probably benign	0.16
R3949:Ino80d	UTSW	1	63,113,662 (GRCm39)	missense	probably benign	0.16
R5301:Ino80d	UTSW	1	63,113,578 (GRCm39)	missense	probably benign
R5338:Ino80d	UTSW	1	63,098,098 (GRCm39)	missense	probably benign	0.34
R5634:Ino80d	UTSW	1	63,101,442 (GRCm39)	intron	probably benign
R5716:Ino80d	UTSW	1	63,097,856 (GRCm39)	missense	probably benign	0.01
R5841:Ino80d	UTSW	1	63,097,999 (GRCm39)	missense	probably damaging	1.00
R6219:Ino80d	UTSW	1	63,118,206 (GRCm39)	missense	possibly damaging	0.88
R6222:Ino80d	UTSW	1	63,097,684 (GRCm39)	missense	probably damaging	0.99
R6283:Ino80d	UTSW	1	63,101,285 (GRCm39)	missense	probably damaging	1.00
R6720:Ino80d	UTSW	1	63,097,769 (GRCm39)	missense	probably damaging	1.00
R6835:Ino80d	UTSW	1	63,113,485 (GRCm39)	missense	probably benign
R6897:Ino80d	UTSW	1	63,104,993 (GRCm39)	missense	probably damaging	1.00
R7162:Ino80d	UTSW	1	63,104,894 (GRCm39)	missense	probably damaging	1.00
R7403:Ino80d	UTSW	1	63,101,378 (GRCm39)	missense	possibly damaging	0.52
R7644:Ino80d	UTSW	1	63,097,930 (GRCm39)	missense	probably benign	0.18
R7816:Ino80d	UTSW	1	63,125,556 (GRCm39)	missense	probably damaging	1.00
R8054:Ino80d	UTSW	1	63,097,837 (GRCm39)	missense	possibly damaging	0.62
R9169:Ino80d	UTSW	1	63,097,930 (GRCm39)	missense	probably benign	0.18
R9170:Ino80d	UTSW	1	63,132,607 (GRCm39)	missense	probably damaging	1.00
R9301:Ino80d	UTSW	1	63,104,969 (GRCm39)	missense	probably damaging	1.00
R9462:Ino80d	UTSW	1	63,097,393 (GRCm39)	missense	probably damaging	1.00
R9618:Ino80d	UTSW	1	63,101,342 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-07-06