Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Ino80d'

538360

Institutional Source

Beutler Lab

Gene Symbol

Ino80d

Ensembl Gene

ENSMUSG00000040865

Gene Name

INO80 complex subunit D

Synonyms

A430093A21Rik

MMRRC Submission

044991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63086960-63153693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63104993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 361 (I361N)

Ref Sequence

ENSEMBL: ENSMUSP00000127378 (fasta)

Gene Model

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

AlphaFold

Q66JY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000097718
AA Change: I361N

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

SMART Domains

Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: I361N

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 damaging
Transcript: ENSMUST00000133236
AA Change: I361N

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

SMART Domains

Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: I361N

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 damaging
Transcript: ENSMUST00000137511
AA Change: I361N

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

SMART Domains

Protein: ENSMUSP00000119118
Gene: ENSMUSG00000040865
AA Change: I361N

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 damaging
Transcript: ENSMUST00000153992
AA Change: I361N

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

SMART Domains

Protein: ENSMUSP00000115332
Gene: ENSMUSG00000040865
AA Change: I361N

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: I466N

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

SMART Domains

Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: I466N

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 damaging
Transcript: ENSMUST00000172416
AA Change: I361N

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

SMART Domains

Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: I361N

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

Meta Mutation Damage Score

0.9363

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,534 (GRCm39)	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,627,991 (GRCm39)		probably null	Het
Adgrg1	T	C	8: 95,729,126 (GRCm39)	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789 (GRCm39)	L183P	probably damaging	Het
Alg5	T	C	3: 54,656,063 (GRCm39)	C270R	probably benign	Het
Anxa4	T	A	6: 86,720,160 (GRCm39)		probably null	Het
Armc2	C	A	10: 41,869,225 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 58,030,800 (GRCm39)	N1314S	probably benign	Het
Bbs7	T	A	3: 36,652,460 (GRCm39)	E331V	probably benign	Het
Bmper	T	A	9: 23,285,225 (GRCm39)	V258E	probably benign	Het
Catspere2	A	T	1: 177,939,139 (GRCm39)	I671F	possibly damaging	Het
Cd101	A	G	3: 100,920,376 (GRCm39)	S508P	probably damaging	Het
Cd177	C	T	7: 24,444,499 (GRCm39)	R694H	probably benign	Het
Clptm1	C	A	7: 19,369,751 (GRCm39)	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,004,705 (GRCm39)	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,739,070 (GRCm39)	F310I	probably benign	Het
Dmxl1	A	G	18: 49,984,562 (GRCm39)	K186R	probably null	Het
Dmxl1	C	A	18: 49,996,124 (GRCm39)	Q417K	possibly damaging	Het
Eloa	T	C	4: 135,740,220 (GRCm39)	D67G	possibly damaging	Het
Elovl4	T	C	9: 83,665,278 (GRCm39)	I103V	probably benign	Het
Gabpa	C	G	16: 84,657,361 (GRCm39)	A412G	probably benign	Het
Gldn	T	A	9: 54,242,158 (GRCm39)		probably null	Het
Kalrn	G	A	16: 33,796,073 (GRCm39)	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,028,026 (GRCm39)	M367K	probably benign	Het
Klrd1	G	A	6: 129,570,468 (GRCm39)	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,758,942 (GRCm39)	N969S	probably benign	Het
Lgi4	A	G	7: 30,768,315 (GRCm39)	D438G	probably benign	Het
Lig1	T	C	7: 13,039,840 (GRCm39)	L684P	probably damaging	Het
Lrp2	T	C	2: 69,340,846 (GRCm39)	M1010V	probably benign	Het
Magi3	C	A	3: 103,996,873 (GRCm39)	R224I	probably damaging	Het
Mier2	T	C	10: 79,380,573 (GRCm39)	N277S	probably damaging	Het
Morn1	A	G	4: 155,171,112 (GRCm39)	H17R	probably benign	Het
Nf2	A	T	11: 4,749,878 (GRCm39)	S265T	probably damaging	Het
Or5m11b	A	G	2: 85,805,700 (GRCm39)	T38A	possibly damaging	Het
Or8k24	G	A	2: 86,216,024 (GRCm39)	T246I	possibly damaging	Het
Palb2	A	G	7: 121,726,270 (GRCm39)		probably null	Het
Pdzd2	C	T	15: 12,385,951 (GRCm39)	V940M	probably damaging	Het
Phldb2	T	C	16: 45,598,138 (GRCm39)	K850E	probably damaging	Het
Pitx1	G	A	13: 55,976,335 (GRCm39)	T108M	probably damaging	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pomp	T	A	5: 147,812,313 (GRCm39)	M133K	possibly damaging	Het
Prex1	T	C	2: 166,423,913 (GRCm39)	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,533,075 (GRCm39)		probably benign	Het
Pwp2	C	A	10: 78,007,917 (GRCm39)	Q879H	probably damaging	Het
Rab26	G	A	17: 24,748,766 (GRCm39)	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,592,514 (GRCm39)	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,550,421 (GRCm39)	D153E	probably benign	Het
Sez6	C	G	11: 77,844,385 (GRCm39)	H69Q	probably damaging	Het
Sgsm3	A	T	15: 80,893,095 (GRCm39)	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,234,670 (GRCm39)	V151A	possibly damaging	Het
Socs1	G	T	16: 10,602,266 (GRCm39)	A157E	probably benign	Het
Spmip4	T	A	6: 50,566,145 (GRCm39)	Q110L	possibly damaging	Het
Sptbn4	C	A	7: 27,071,375 (GRCm39)	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,621,523 (GRCm39)	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,892,809 (GRCm39)	G36W	probably damaging	Het
Tbk1	T	C	10: 121,395,782 (GRCm39)	E437G	probably benign	Het
Tns3	A	G	11: 8,481,743 (GRCm39)	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,656,638 (GRCm39)	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,127,649 (GRCm39)		probably benign	Het
Ufd1	T	A	16: 18,645,850 (GRCm39)	I254N	probably benign	Het
Ugdh	T	G	5: 65,584,776 (GRCm39)	T49P	probably benign	Het
Vav3	T	C	3: 109,434,810 (GRCm39)	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,283,445 (GRCm39)	K43*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,306,015 (GRCm39)	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,991,932 (GRCm39)	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,485,587 (GRCm39)	K791N	probably damaging	Het
Xirp2	A	G	2: 67,338,911 (GRCm39)	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,232,273 (GRCm39)	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,601,880 (GRCm39)	I275L	probably benign	Het
Zfp957	A	T	14: 79,451,344 (GRCm39)	S152T	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
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
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
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'- GCACTGTTTGTCCAGAACTTCATTAG -3'
(R):5'- TTGCCTGAGAGCCTGTTAGC -3'

Sequencing Primer
(F):5'- GCAGAAATAGTCACCAACAGTTTG -3'
(R):5'- TGCCTGAGAGCCTGTTAGCTAAATAG -3'

Posted On

2018-11-06