Mutagenetix > Incidental Mutation

Incidental Mutation 'R3800:Ino80c'

272952

Institutional Source

Beutler Lab

Gene Symbol

Ino80c

Ensembl Gene

ENSMUSG00000047989

Gene Name

INO80 complex subunit C

Synonyms

D030070L09Rik

MMRRC Submission

040759-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R3800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24237818-24254876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24254752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000055342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055012] [ENSMUST00000141489] [ENSMUST00000153360]

AlphaFold

Q8BHA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055012
AA Change: Y36C

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

SMART Domains

Protein: ENSMUSP00000055342
Gene: ENSMUSG00000047989
AA Change: Y36C

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141489
AA Change: Y36C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122372
Gene: ENSMUSG00000047989
AA Change: Y36C

Domain	Start	End	E-Value	Type
YL1_C	43	72	1.73e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153360
AA Change: Y36C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114643
Gene: ENSMUSG00000047989
AA Change: Y36C

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC
YL1_C	140	169	2.99e-9	SMART

Meta Mutation Damage Score

0.1657

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,385,025 (GRCm39)	D313E	possibly damaging	Het
Abca12	C	T	1: 71,305,046 (GRCm39)	V2070I	probably damaging	Het
Adam23	C	T	1: 63,590,933 (GRCm39)	R467*	probably null	Het
Adgrf5	T	C	17: 43,757,951 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,877,889 (GRCm39)		probably null	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap28	T	C	17: 68,180,031 (GRCm39)	D268G	probably damaging	Het
Btbd9	T	C	17: 30,732,633 (GRCm39)	I351V	possibly damaging	Het
Cacna1b	C	T	2: 24,548,971 (GRCm39)	R1138Q	probably benign	Het
Caskin1	T	G	17: 24,720,246 (GRCm39)	V456G	probably benign	Het
Ccdc96	A	G	5: 36,643,611 (GRCm39)	D539G	probably damaging	Het
Cep290	T	C	10: 100,408,803 (GRCm39)	I2425T	probably damaging	Het
Cfap251	T	C	5: 123,392,784 (GRCm39)		probably benign	Het
Col18a1	C	A	10: 76,903,221 (GRCm39)	G998*	probably null	Het
Cpe	A	G	8: 65,070,651 (GRCm39)	V198A	probably benign	Het
Cux1	A	G	5: 136,344,887 (GRCm39)	M364T	probably damaging	Het
Dock8	T	A	19: 25,141,716 (GRCm39)	N1396K	probably benign	Het
Dync2h1	A	C	9: 7,101,525 (GRCm39)	F482V	possibly damaging	Het
Eif1ad19	T	C	12: 87,740,491 (GRCm39)	K23E	possibly damaging	Het
Fat4	T	A	3: 39,035,423 (GRCm39)	V3025E	possibly damaging	Het
Fbn1	T	A	2: 125,187,894 (GRCm39)	D1545V	possibly damaging	Het
Fbxw16	T	G	9: 109,265,665 (GRCm39)	I385L	probably damaging	Het
Fnbp1	T	C	2: 30,923,143 (GRCm39)	E341G	probably damaging	Het
Gm9845	T	C	3: 39,412,642 (GRCm39)		noncoding transcript	Het
Gmps	T	C	3: 63,889,866 (GRCm39)	Y82H	possibly damaging	Het
Habp4	C	T	13: 64,321,917 (GRCm39)	R185C	probably damaging	Het
Ift122	T	A	6: 115,902,867 (GRCm39)	S1209T	probably benign	Het
Inpp5b	C	T	4: 124,679,138 (GRCm39)	T515I	probably damaging	Het
Kcnj6	G	A	16: 94,633,886 (GRCm39)	T75M	probably damaging	Het
Map2k4	A	T	11: 65,581,607 (GRCm39)	Y368*	probably null	Het
Mbd6	A	G	10: 127,121,036 (GRCm39)		probably benign	Het
Mccc1	G	A	3: 36,054,658 (GRCm39)	R17W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncoa3	T	C	2: 165,901,639 (GRCm39)	M1004T	possibly damaging	Het
Npnt	C	A	3: 132,612,524 (GRCm39)	G87V	probably damaging	Het
Or10a4	C	T	7: 106,696,938 (GRCm39)	Q89*	probably null	Het
Or14j1	T	G	17: 38,146,848 (GRCm39)	N319K	probably benign	Het
Ppp2r1a	A	T	17: 21,182,972 (GRCm39)	D552V	possibly damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rnf34	A	G	5: 123,002,273 (GRCm39)	H77R	probably damaging	Het
Samm50	T	C	15: 84,076,575 (GRCm39)	V4A	probably damaging	Het
Sdccag8	A	T	1: 176,695,904 (GRCm39)	R403*	probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp6	A	G	9: 79,994,735 (GRCm39)	R25G	possibly damaging	Het
Shc2	C	T	10: 79,462,707 (GRCm39)	V272I	probably benign	Het
Smarcd3	T	A	5: 24,798,225 (GRCm39)	K403*	probably null	Het
Srgap2	T	A	1: 131,238,297 (GRCm39)	I672F	probably damaging	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Ubash3a	T	C	17: 31,450,444 (GRCm39)	V373A	probably benign	Het
Vav3	A	G	3: 109,535,355 (GRCm39)	K36E	probably benign	Het
Vmn2r65	A	G	7: 84,589,738 (GRCm39)	V726A	possibly damaging	Het

Other mutations in Ino80c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0063:Ino80c	UTSW	18	24,239,681 (GRCm39)	missense	probably damaging	0.98
R2017:Ino80c	UTSW	18	24,244,810 (GRCm39)	nonsense	probably null
R4688:Ino80c	UTSW	18	24,241,903 (GRCm39)	missense	probably damaging	1.00
R4711:Ino80c	UTSW	18	24,247,222 (GRCm39)	missense	probably benign	0.00
R4966:Ino80c	UTSW	18	24,239,702 (GRCm39)	missense	probably damaging	1.00
R5144:Ino80c	UTSW	18	24,241,935 (GRCm39)	missense	probably benign	0.40
R5406:Ino80c	UTSW	18	24,245,819 (GRCm39)	missense	probably benign	0.18
R6909:Ino80c	UTSW	18	24,241,812 (GRCm39)	intron	probably benign
R7419:Ino80c	UTSW	18	24,241,836 (GRCm39)	missense	unknown
R7470:Ino80c	UTSW	18	24,241,895 (GRCm39)	nonsense	probably null
R8071:Ino80c	UTSW	18	24,239,707 (GRCm39)	missense	unknown
R8936:Ino80c	UTSW	18	24,254,865 (GRCm39)	start gained	probably benign
R9134:Ino80c	UTSW	18	24,254,765 (GRCm39)	missense	probably benign	0.18
R9673:Ino80c	UTSW	18	24,254,856 (GRCm39)	start codon destroyed	probably null	0.01

Predicted Primers

PCR Primer
(F):5'- CAGCAGTATTTAGGACGTTGC -3'
(R):5'- AACATCGAGCCGGAAGTTC -3'

Sequencing Primer
(F):5'- ATTTAGGACGTTGCCCGGAGAG -3'
(R):5'- AAGTTCTCGGGCTCGCCTTG -3'

Posted On

2015-03-25