Mutagenetix > Incidental Mutation

Incidental Mutation 'R8681:Ino80e'

661746

Institutional Source

Beutler Lab

Gene Symbol

Ino80e

Ensembl Gene

ENSMUSG00000030689

Gene Name

INO80 complex subunit E

Synonyms

Ccdc95

MMRRC Submission

068536-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R8681 (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 126460893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 22 (L22P)

Ref Sequence

ENSEMBL: ENSMUSP00000101950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037248] [ENSMUST00000050833] [ENSMUST00000071268] [ENSMUST00000106342] [ENSMUST00000106343] [ENSMUST00000129812] [ENSMUST00000132808] [ENSMUST00000205349] [ENSMUST00000206349] [ENSMUST00000206968] [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 damaging
Transcript: ENSMUST00000106343
AA Change: L22P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689
AA Change: L22P

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

probably damaging
Transcript: ENSMUST00000205349
AA Change: L22P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

probably benign
Transcript: ENSMUST00000206090

Predicted Effect

probably damaging
Transcript: ENSMUST00000206349
AA Change: L22P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206968
AA Change: L118P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,231,908 (GRCm39)	V1347A	possibly damaging	Het
Adam32	G	A	8: 25,327,811 (GRCm39)	T750I	unknown	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Aebp1	A	G	11: 5,817,899 (GRCm39)	D438G	probably null	Het
Anks1b	T	A	10: 89,885,868 (GRCm39)	M188K	probably damaging	Het
Aopep	T	C	13: 63,338,373 (GRCm39)	F583S	probably damaging	Het
Arhgef18	A	G	8: 3,439,074 (GRCm39)	Y477C	unknown	Het
Cep112	T	C	11: 108,316,478 (GRCm39)		probably null	Het
Clu	T	C	14: 66,218,406 (GRCm39)	V422A	probably damaging	Het
Cntrl	T	C	2: 35,038,600 (GRCm39)	L1050P	probably damaging	Het
Col23a1	A	T	11: 51,458,756 (GRCm39)	T298S	possibly damaging	Het
Cyp26c1	A	T	19: 37,675,065 (GRCm39)	T129S	probably damaging	Het
Cyp2c38	A	C	19: 39,390,135 (GRCm39)	V355G	possibly damaging	Het
Cyp4a30b	G	A	4: 115,314,942 (GRCm39)	V175M	possibly damaging	Het
Cyp7a1	A	T	4: 6,271,207 (GRCm39)	N316K	probably benign	Het
Dcaf17	T	A	2: 70,886,913 (GRCm39)	Y67*	probably null	Het
Dll3	T	C	7: 27,994,270 (GRCm39)	D389G	probably damaging	Het
Fbxo33	A	G	12: 59,265,830 (GRCm39)	F146L	probably benign	Het
Gm10118	C	T	10: 63,762,756 (GRCm39)	V61M	unknown	Het
Gm9611	T	C	14: 42,118,026 (GRCm39)	D102G		Het
Grik5	G	A	7: 24,709,897 (GRCm39)	A946V	probably benign	Het
Il17c	A	G	8: 123,150,207 (GRCm39)	D150G	possibly damaging	Het
Kcnh2	G	T	5: 24,536,981 (GRCm39)	T201K	probably benign	Het
Klrb1	A	C	6: 128,687,012 (GRCm39)	N173K	possibly damaging	Het
Kmt2d	T	A	15: 98,743,948 (GRCm39)	Q3737H	unknown	Het
Lemd3	T	C	10: 120,767,728 (GRCm39)	D682G	possibly damaging	Het
Lilra5	T	C	7: 4,241,216 (GRCm39)	V51A	probably benign	Het
Lrrc25	G	A	8: 71,070,314 (GRCm39)	V32I	possibly damaging	Het
Mdh1b	T	A	1: 63,754,360 (GRCm39)	M403L	probably benign	Het
Mms19	G	A	19: 41,937,915 (GRCm39)	L765F	probably damaging	Het
Msx3	T	A	7: 139,628,900 (GRCm39)	T5S	probably benign	Het
Myh13	A	C	11: 67,242,960 (GRCm39)	I958L	possibly damaging	Het
Myo18b	T	A	5: 113,021,429 (GRCm39)		probably null	Het
Myo9a	G	A	9: 59,775,394 (GRCm39)	V1002I	probably benign	Het
Neb	T	C	2: 52,127,048 (GRCm39)	K379R	probably damaging	Het
Nsmce2	A	G	15: 59,473,208 (GRCm39)	S216G	probably benign	Het
Odad1	A	G	7: 45,591,263 (GRCm39)	E246G	probably damaging	Het
Or11h7	A	T	14: 50,890,801 (GRCm39)	M36L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pkp2	A	T	16: 16,048,545 (GRCm39)	M317L	probably benign	Het
Pogz	T	A	3: 94,768,234 (GRCm39)	H137Q	probably damaging	Het
Prrx2	G	T	2: 30,735,519 (GRCm39)	D25Y	unknown	Het
Ptprf	T	C	4: 118,088,844 (GRCm39)	D653G	probably benign	Het
Rps6kl1	T	A	12: 85,194,629 (GRCm39)	E94V	probably damaging	Het
Slc44a1	A	T	4: 53,481,510 (GRCm39)	D27V	probably damaging	Het
Slc44a4	A	G	17: 35,147,253 (GRCm39)	I549V	possibly damaging	Het
Slc8a3	T	C	12: 81,361,914 (GRCm39)	T302A	probably benign	Het
Spic	T	A	10: 88,511,847 (GRCm39)	K136N	possibly damaging	Het
Stk36	T	C	1: 74,661,392 (GRCm39)	L473P	probably damaging	Het
Syce1	G	A	7: 140,361,987 (GRCm39)	T32I	possibly damaging	Het
Tars2	G	A	3: 95,658,199 (GRCm39)	Q209*	probably null	Het
Tmem9b	A	G	7: 109,344,527 (GRCm39)	V100A	probably benign	Het
Vmn1r67	A	G	7: 10,181,128 (GRCm39)	I131V	probably benign	Het
Vmn2r26	C	T	6: 124,001,877 (GRCm39)	T54I	probably benign	Het
Zfp142	T	C	1: 74,610,747 (GRCm39)	E1016G	probably damaging	Het
Zfp773	T	C	7: 7,139,482 (GRCm39)	T56A	possibly damaging	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
R8737:Ino80e	UTSW	7	126,460,974 (GRCm39)	missense	probably benign	0.31
R9472:Ino80e	UTSW	7	126,461,127 (GRCm39)	missense	unknown
R9715:Ino80e	UTSW	7	126,461,098 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTCTGAGCTCCTCCTGGAAG -3'
(R):5'- TGGAAGCAGCGTTCCTTTC -3'

Sequencing Primer
(F):5'- TCCTCCTGGAAGCACTCGTG -3'
(R):5'- GCGGTGTGATTACGCTCC -3'

Posted On

2021-03-08