Mutagenetix > Incidental Mutations

Incidental Mutation 'R2351:Ino80d'

246091

Institutional Source

Beutler Lab

Gene Symbol

Ino80d

Ensembl Gene

ENSMUSG00000040865

Gene Name

INO80 complex subunit D

Synonyms

A430093A21Rik

MMRRC Submission

040333-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62958418-63114667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63085835 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 156 (L156H)

Ref Sequence

ENSEMBL: ENSMUSP00000127378 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097718
AA Change: L156H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: L156H

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
AA Change: L156H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: L156H

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
AA Change: L156H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119118
Gene: ENSMUSG00000040865
AA Change: L156H

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
AA Change: L156H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115332
Gene: ENSMUSG00000040865
AA Change: L156H

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
AA Change: L261H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: L261H

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
AA Change: L156H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: L156H

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,852,108	Y135*	probably null	Het
2700081O15Rik	T	C	19: 7,422,244	I247T	probably damaging	Het
9430007A20Rik	A	T	4: 144,528,778	Y256F	probably damaging	Het
Acad10	A	T	5: 121,629,927	I820K	probably benign	Het
Arl8b	A	T	6: 108,821,523	I178F	possibly damaging	Het
Asap1	A	T	15: 64,135,804		probably null	Het
Atp2b2	A	T	6: 113,789,757	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,882,863	D43E	probably benign	Het
Ccdc162	C	A	10: 41,555,972		probably null	Het
Ccdc186	T	G	19: 56,798,697	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,855,683	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,337,383	N123K	possibly damaging	Het
Col18a1	C	T	10: 77,112,704	G325S	probably benign	Het
Cwc25	G	T	11: 97,747,392	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,571,313	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 32,925,596	I309L	probably benign	Het
Dap3	A	T	3: 88,933,563		probably null	Het
Dchs1	G	T	7: 105,754,094	D3080E	probably benign	Het
Ern2	A	G	7: 122,171,508	V762A	probably damaging	Het
Fgr	C	T	4: 132,997,237	R255C	probably damaging	Het
Gcm2	A	T	13: 41,103,618	D218E	probably benign	Het
Gfi1	A	G	5: 107,721,774	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,119	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,464,019	D840G	probably benign	Het
H3f3a	T	C	1: 180,810,158	T81A	probably benign	Het
Igsf23	C	T	7: 19,944,798	W22*	probably null	Het
Il12rb2	G	A	6: 67,361,944	Q3*	probably null	Het
Kdm2a	G	A	19: 4,329,126	P554S	probably benign	Het
Lefty1	T	A	1: 180,937,242	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010	S4398T	probably benign	Het
Myh10	A	G	11: 68,793,139	D1126G	probably damaging	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,034,579	D111V	probably damaging	Het
Naip6	T	A	13: 100,283,661	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,237,098	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921	I77F	probably damaging	Het
Nvl	T	C	1: 181,130,792	T231A	probably benign	Het
Obscn	T	C	11: 59,112,612	R1287G	probably damaging	Het
Olfr1058	C	T	2: 86,386,127	C97Y	probably damaging	Het
Olfr1219	C	T	2: 89,074,399	G231S	possibly damaging	Het
Olfr1254	T	C	2: 89,789,178	Y58C	probably damaging	Het
Olfr2	A	T	7: 107,001,676	Y61*	probably null	Het
Olfr420	T	A	1: 174,158,920	V49D	probably damaging	Het
Olfr765	A	G	10: 129,046,928	V45A	probably benign	Het
Opn3	T	C	1: 175,692,511	D9G	probably benign	Het
Parp10	A	T	15: 76,242,856	S101R	probably benign	Het
Pdhx	T	A	2: 103,024,217	K399*	probably null	Het
Pdia4	A	T	6: 47,796,914		probably null	Het
Pla2g4f	T	C	2: 120,300,442	D844G	probably benign	Het
Prtg	C	A	9: 72,856,824	D526E	probably damaging	Het
Rassf6	T	C	5: 90,631,559	D5G	probably benign	Het
Riok3	C	T	18: 12,149,667	Q388*	probably null	Het
Robo4	T	A	9: 37,411,660	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,030,429	E103K	probably benign	Het
Rpl18a	A	T	8: 70,896,220	H37Q	probably benign	Het
Ryr1	A	T	7: 29,075,293	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,644,886	D2E	possibly damaging	Het
Slco5a1	C	T	1: 12,989,934	V188I	probably benign	Het
Son	T	A	16: 91,657,659	M1098K	probably damaging	Het
Spag9	A	G	11: 94,092,900	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,496	F46S	possibly damaging	Het
Sspo	C	T	6: 48,464,869	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,539,921	I209V	probably benign	Het
Tlk2	A	G	11: 105,209,830	Y87C	probably damaging	Het
Traf4	G	A	11: 78,160,176	R385W	probably damaging	Het
Triobp	G	A	15: 79,004,580	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,507	I56L	probably benign	Het
Upp2	T	A	2: 58,763,662		probably null	Het
Vps13b	T	C	15: 35,869,311	W2654R	probably damaging	Het
Zc3h18	C	T	8: 122,403,187	R435*	probably null	Het

Other mutations in Ino80d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Ino80d	APN	1	63093303	missense	probably damaging	1.00
IGL01552:Ino80d	APN	1	63057977	utr 3 prime	probably benign
IGL01960:Ino80d	APN	1	63058147	missense	probably damaging	0.98
IGL02374:Ino80d	APN	1	63086061	missense	possibly damaging	0.63
IGL03201:Ino80d	APN	1	63058308	missense	probably damaging	1.00
IGL03248:Ino80d	APN	1	63068182	critical splice donor site	probably null
Creepy	UTSW	1	63079047	missense	possibly damaging	0.88
Friable	UTSW	1	63062126	missense	probably damaging	1.00
Herpes	UTSW	1	63065834	missense	probably damaging	1.00
PIT4696001:Ino80d	UTSW	1	63085986	missense	probably benign
R0153:Ino80d	UTSW	1	63058318	missense	probably damaging	0.97
R0371:Ino80d	UTSW	1	63057956	utr 3 prime	probably benign
R0416:Ino80d	UTSW	1	63086276	missense	possibly damaging	0.93
R1738:Ino80d	UTSW	1	63093465	missense	probably damaging	1.00
R2341:Ino80d	UTSW	1	63065826	missense	possibly damaging	0.75
R2870:Ino80d	UTSW	1	63061039	critical splice donor site	probably null
R2870:Ino80d	UTSW	1	63061039	critical splice donor site	probably null
R3814:Ino80d	UTSW	1	63074424	missense	probably benign	0.05
R3828:Ino80d	UTSW	1	63062078	missense	possibly damaging	0.94
R3947:Ino80d	UTSW	1	63074503	missense	probably benign	0.16
R3949:Ino80d	UTSW	1	63074503	missense	probably benign	0.16
R5180:Ino80d	UTSW	1	63086329	start gained	probably benign
R5301:Ino80d	UTSW	1	63074419	missense	probably benign
R5338:Ino80d	UTSW	1	63058939	missense	probably benign	0.34
R5634:Ino80d	UTSW	1	63062283	intron	probably benign
R5716:Ino80d	UTSW	1	63058697	missense	probably benign	0.01
R5841:Ino80d	UTSW	1	63058840	missense	probably damaging	1.00
R6219:Ino80d	UTSW	1	63079047	missense	possibly damaging	0.88
R6222:Ino80d	UTSW	1	63058525	missense	probably damaging	0.99
R6283:Ino80d	UTSW	1	63062126	missense	probably damaging	1.00
R6720:Ino80d	UTSW	1	63058610	missense	probably damaging	1.00
R6835:Ino80d	UTSW	1	63074326	missense	probably benign
R6897:Ino80d	UTSW	1	63065834	missense	probably damaging	1.00
R7162:Ino80d	UTSW	1	63065735	missense	probably damaging	1.00
R7403:Ino80d	UTSW	1	63062219	missense	possibly damaging	0.52
R7644:Ino80d	UTSW	1	63058771	missense	probably benign	0.18
R7816:Ino80d	UTSW	1	63086397	missense	probably damaging	1.00
R8054:Ino80d	UTSW	1	63058678	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TTCCAGGAAAGGAGGCCAAC -3'
(R):5'- AGTTCGGCAAGAGCACTTTAGC -3'

Sequencing Primer
(F):5'- AGTTTCACCAGTCTCTGC -3'
(R):5'- GAGCACTTTAGCACCCCTC -3'

Posted On

2014-10-30