Mutagenetix > Incidental Mutation

Incidental Mutation 'R9472:Ino80e'

715520

Institutional Source

Beutler Lab

Gene Symbol

Ino80e

Ensembl Gene

ENSMUSG00000030689

Gene Name

INO80 complex subunit E

Synonyms

Ccdc95

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R9472 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126450756-126461544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126461127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

Ref Sequence

ENSEMBL: ENSMUSP00000145893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037248] [ENSMUST00000050833] [ENSMUST00000071268] [ENSMUST00000106342] [ENSMUST00000106343] [ENSMUST00000129812] [ENSMUST00000132808] [ENSMUST00000206968] [ENSMUST00000205349] [ENSMUST00000206349] [ENSMUST00000214525]

AlphaFold

D3Z3H0

Predicted Effect

probably benign
Transcript: ENSMUST00000037248

SMART Domains

Protein: ENSMUSP00000035535
Gene: ENSMUSG00000042606

Domain	Start	End	E-Value	Type
low complexity region	96	113	N/A	INTRINSIC
low complexity region	148	164	N/A	INTRINSIC
low complexity region	229	244	N/A	INTRINSIC
low complexity region	286	339	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
low complexity region	405	419	N/A	INTRINSIC
internal_repeat_1	420	443	6.44e-5	PROSPERO
internal_repeat_1	440	463	6.44e-5	PROSPERO
CHZ	529	565	1.17e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050833

SMART Domains

Protein: ENSMUSP00000049851
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
low complexity region	25	42	N/A	INTRINSIC
low complexity region	59	81	N/A	INTRINSIC
low complexity region	86	108	N/A	INTRINSIC
low complexity region	116	132	N/A	INTRINSIC
low complexity region	163	171	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071268

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
coiled coil region	821	859	N/A	INTRINSIC
low complexity region	863	892	N/A	INTRINSIC
low complexity region	931	954	N/A	INTRINSIC
low complexity region	963	972	N/A	INTRINSIC
low complexity region	977	992	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106342

SMART Domains

Protein: ENSMUSP00000101949
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
low complexity region	44	66	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
low complexity region	121	129	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106343

SMART Domains

Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
coiled coil region	10	55	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	125	147	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	202	210	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129812

SMART Domains

Protein: ENSMUSP00000114606
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
SCOP:d1iw7c_	15	37	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132808

SMART Domains

Protein: ENSMUSP00000115145
Gene: ENSMUSG00000042606

Domain	Start	End	E-Value	Type
low complexity region	36	53	N/A	INTRINSIC
low complexity region	88	104	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000206968
AA Change: V40A

Predicted Effect

probably benign
Transcript: ENSMUST00000205349

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

probably benign
Transcript: ENSMUST00000205958

Predicted Effect

probably benign
Transcript: ENSMUST00000206090

Predicted Effect

probably benign
Transcript: ENSMUST00000206349

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,127,248 (GRCm39)	K449N	probably benign	Het
Adam39	G	A	8: 41,279,351 (GRCm39)	V581I	possibly damaging	Het
Agrn	A	G	4: 156,254,841 (GRCm39)	F1625S		Het
Aox3	G	T	1: 58,215,669 (GRCm39)	V1034L	possibly damaging	Het
Baz2a	T	G	10: 127,948,624 (GRCm39)	S302A	probably benign	Het
Capn9	T	C	8: 125,325,534 (GRCm39)		probably null	Het
Ccdc153	A	T	9: 44,154,923 (GRCm39)	Q104L	possibly damaging	Het
Cdh1	A	T	8: 107,380,248 (GRCm39)	N168I	probably damaging	Het
Crisp3	A	T	17: 40,539,676 (GRCm39)		probably null	Het
Ctsb	T	C	14: 63,379,186 (GRCm39)	V266A	probably damaging	Het
Cyp2c39	G	T	19: 39,502,043 (GRCm39)	R144L	probably damaging	Het
Elmo1	C	T	13: 20,470,897 (GRCm39)	A263V	probably benign	Het
Enkur	T	C	2: 21,201,590 (GRCm39)	R32G	possibly damaging	Het
Fsip2	T	A	2: 82,817,285 (GRCm39)	N4339K	possibly damaging	Het
Gsn	T	G	2: 35,182,741 (GRCm39)	M268R	probably damaging	Het
Herc2	T	A	7: 55,813,843 (GRCm39)	W2659R	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Ints2	T	C	11: 86,133,824 (GRCm39)	T409A		Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,596,197 (GRCm39)	V787A	probably benign	Het
Klhl32	A	G	4: 24,629,273 (GRCm39)	V465A	probably benign	Het
Kmt2a	C	A	9: 44,733,453 (GRCm39)	R2288L	unknown	Het
Megf6	G	A	4: 154,333,910 (GRCm39)	G213S	probably damaging	Het
Mt2	T	A	8: 94,899,999 (GRCm39)	C44S	probably damaging	Het
Nfe2l1	A	G	11: 96,710,159 (GRCm39)	V690A	probably damaging	Het
Obscn	T	C	11: 58,894,495 (GRCm39)	H6670R		Het
Or4c111	A	C	2: 88,843,517 (GRCm39)	I297S	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
Pcdhb17	C	A	18: 37,618,919 (GRCm39)	N236K	probably damaging	Het
Phlpp1	T	C	1: 106,308,079 (GRCm39)	S1119P	probably damaging	Het
Plppr3	T	C	10: 79,702,711 (GRCm39)	D184G	probably damaging	Het
Rassf6	A	T	5: 90,765,572 (GRCm39)	Y46*	probably null	Het
Rmdn2	T	A	17: 79,989,096 (GRCm39)	I405N	possibly damaging	Het
Rsbn1l	A	C	5: 21,113,119 (GRCm39)	S468A	probably damaging	Het
Rslcan18	T	C	13: 67,260,296 (GRCm39)	K34E	probably benign	Het
Runx3	A	G	4: 134,898,441 (GRCm39)	D204G	probably damaging	Het
Sbf2	A	G	7: 109,970,798 (GRCm39)	I866T	possibly damaging	Het
Sgtb	A	C	13: 104,247,681 (GRCm39)	E28D	probably benign	Het
Slc38a8	T	A	8: 120,227,888 (GRCm39)	K14M	probably damaging	Het
Spast	T	C	17: 74,681,143 (GRCm39)	V478A	probably damaging	Het
Stxbp5	T	C	10: 9,719,101 (GRCm39)	T147A	probably damaging	Het
Tmem208	T	C	8: 106,055,027 (GRCm39)	F79S	probably damaging	Het
Tmprss7	T	C	16: 45,501,052 (GRCm39)	I250V	probably benign	Het
Usp24	A	G	4: 106,261,128 (GRCm39)	T1628A	probably benign	Het
Vmn2r14	G	T	5: 109,367,962 (GRCm39)	N343K	probably benign	Het
Xrcc6	T	A	15: 81,913,328 (GRCm39)	Y320*	probably null	Het
Zbtb10	A	C	3: 9,343,355 (GRCm39)	T627P	probably benign	Het
Zfp532	A	T	18: 65,756,624 (GRCm39)	K186*	probably null	Het

Other mutations in Ino80e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7473:Ino80e	UTSW	7	126,456,484 (GRCm39)	missense	probably damaging	0.96
R8681:Ino80e	UTSW	7	126,460,893 (GRCm39)	missense	probably damaging	0.99
R8737:Ino80e	UTSW	7	126,460,974 (GRCm39)	missense	probably benign	0.31
R9715:Ino80e	UTSW	7	126,461,098 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGAACTTGAGCTTCCGCTTC -3'
(R):5'- GCTTGTTTCGAAAGGCAGAAGG -3'

Sequencing Primer
(F):5'- CGCTGGTCCGTTCATGAC -3'
(R):5'- GGAGACGGTATTCTCGCTAACATAC -3'

Posted On

2022-06-15