Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Ino80d'

30452

Institutional Source

Beutler Lab

Gene Symbol

Ino80d

Ensembl Gene

ENSMUSG00000040865

Gene Name

INO80 complex subunit D

Synonyms

A430093A21Rik

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0371 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

63086960-63153693 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 63097115 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

probably benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188100

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,381,096 (GRCm39)	T696I	probably damaging	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or4k77	A	T	2: 111,199,498 (GRCm39)	I174L	probably benign	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tchhl1	C	A	3: 93,376,884 (GRCm39)	A27E	probably damaging	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp345	G	T	2: 150,313,983 (GRCm39)	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	probably damaging	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
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
R5180:Ino80d	UTSW	1	63,125,488 (GRCm39)	start gained	probably benign
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

PCR Primer
(F):5'- ATCCTACCCAGTCACTGTGCTGAG -3'
(R):5'- CTTCTGCTGAACTAATGGCCTCCAC -3'

Sequencing Primer
(F):5'- TGTGCTGAGCCACCAAAAAG -3'
(R):5'- AGTTCAGTGCAGCCTTCG -3'

Posted On

2013-04-24