Incidental Mutation 'R0416:Ino80d'
ID 40291
Institutional Source Beutler Lab
Gene Symbol Ino80d
Ensembl Gene ENSMUSG00000040865
Gene Name INO80 complex subunit D
Synonyms A430093A21Rik
MMRRC Submission 038618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0416 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 63086960-63153693 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63125435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 9 (T9K)
Ref Sequence ENSEMBL: ENSMUSP00000115332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097718] [ENSMUST00000133236] [ENSMUST00000137511] [ENSMUST00000153992] [ENSMUST00000165066] [ENSMUST00000172416]
AlphaFold Q66JY2
Predicted Effect probably benign
Transcript: ENSMUST00000097718
AA Change: T9K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: T9K

DomainStartEndE-ValueType
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: T9K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: T9K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000137511
AA Change: T9K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119118
Gene: ENSMUSG00000040865
AA Change: T9K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000153992
AA Change: T9K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115332
Gene: ENSMUSG00000040865
AA Change: T9K

DomainStartEndE-ValueType
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: T114K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: T114K

DomainStartEndE-ValueType
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: T9K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: T9K

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,162,779 (GRCm39) I18V probably benign Het
Adamdec1 T G 14: 68,806,161 (GRCm39) E438A possibly damaging Het
Adamts17 A G 7: 66,565,646 (GRCm39) probably null Het
Ankrd44 T G 1: 54,782,498 (GRCm39) I359L possibly damaging Het
Ap2s1 C A 7: 16,481,290 (GRCm39) N86K probably damaging Het
Arih1 T A 9: 59,333,993 (GRCm39) probably benign Het
Astn1 T A 1: 158,337,461 (GRCm39) I389N probably damaging Het
Brca2 T C 5: 150,492,857 (GRCm39) S3291P possibly damaging Het
Cacna1d T C 14: 29,822,645 (GRCm39) probably benign Het
Ccl7 C A 11: 81,936,692 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,486 (GRCm39) Y232F possibly damaging Het
Cep128 A G 12: 91,197,641 (GRCm39) probably benign Het
Cep89 T A 7: 35,115,827 (GRCm39) probably benign Het
Cmya5 T G 13: 93,226,364 (GRCm39) N2908T probably benign Het
Coil T C 11: 88,872,812 (GRCm39) L391S possibly damaging Het
Cpd C T 11: 76,676,030 (GRCm39) V1208I probably benign Het
Ddx19a T C 8: 111,705,689 (GRCm39) D254G probably damaging Het
Desi2 T A 1: 178,083,887 (GRCm39) probably benign Het
Dnah11 A T 12: 117,874,793 (GRCm39) M4024K probably damaging Het
Ergic2 A T 6: 148,084,642 (GRCm39) L53H probably damaging Het
Etv2 T C 7: 30,334,058 (GRCm39) Y225C probably benign Het
F10 G A 8: 13,105,448 (GRCm39) A338T probably damaging Het
Fam228b T A 12: 4,812,382 (GRCm39) D132V probably damaging Het
Fat2 T A 11: 55,174,960 (GRCm39) I1918F possibly damaging Het
Fbxw5 C T 2: 25,393,251 (GRCm39) S214F probably damaging Het
Glyat G A 19: 12,628,817 (GRCm39) R204Q possibly damaging Het
Gm4825 T C 15: 85,395,182 (GRCm39) noncoding transcript Het
Lifr A T 15: 7,196,395 (GRCm39) D193V probably damaging Het
Lrp12 G T 15: 39,742,307 (GRCm39) probably benign Het
Lrp3 A G 7: 34,901,778 (GRCm39) V701A probably benign Het
Mfsd11 T A 11: 116,756,708 (GRCm39) probably benign Het
Mrto4 A T 4: 139,077,043 (GRCm39) probably null Het
Msi1 T C 5: 115,568,708 (GRCm39) F43L possibly damaging Het
Mthfsd T C 8: 121,827,976 (GRCm39) D168G probably damaging Het
Myo15a T A 11: 60,402,000 (GRCm39) V3099E probably damaging Het
Myrf T C 19: 10,193,176 (GRCm39) probably null Het
Nadk C A 4: 155,672,256 (GRCm39) probably benign Het
Nav1 T C 1: 135,398,864 (GRCm39) K573E possibly damaging Het
Ndufs3 A G 2: 90,728,732 (GRCm39) V207A probably damaging Het
Nlrp3 T C 11: 59,446,750 (GRCm39) probably benign Het
Nlrx1 T G 9: 44,174,211 (GRCm39) D330A probably benign Het
Or2a56 G A 6: 42,932,504 (GRCm39) C24Y probably benign Het
Or2t49 T C 11: 58,393,222 (GRCm39) I53M unknown Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pcnx1 A T 12: 82,021,240 (GRCm39) I1410F probably benign Het
Piezo2 G A 18: 63,157,562 (GRCm39) R2383C probably damaging Het
Pip5kl1 A T 2: 32,473,436 (GRCm39) K358* probably null Het
Polg T C 7: 79,101,988 (GRCm39) probably benign Het
Prr14l T A 5: 32,986,061 (GRCm39) I1145F probably benign Het
Psmb1 C T 17: 15,714,781 (GRCm39) V39I probably benign Het
Ptk6 T C 2: 180,844,101 (GRCm39) Y66C possibly damaging Het
Robo4 T C 9: 37,316,062 (GRCm39) probably benign Het
Sdk2 A G 11: 113,694,029 (GRCm39) Y1801H probably damaging Het
Serpinb3a C A 1: 106,977,116 (GRCm39) A95S probably benign Het
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Sik2 A T 9: 50,906,932 (GRCm39) Y98N probably damaging Het
Slc30a1 C T 1: 191,641,838 (GRCm39) P495S probably benign Het
Smg1 A T 7: 117,783,684 (GRCm39) probably benign Het
Stk3 T A 15: 35,114,778 (GRCm39) I45L probably benign Het
Tapbp A G 17: 34,144,392 (GRCm39) T163A probably damaging Het
Tdrd5 T C 1: 156,113,051 (GRCm39) K410E probably damaging Het
Trim30b A T 7: 104,012,973 (GRCm39) M152K probably benign Het
Trpm6 G T 19: 18,760,389 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,742,743 (GRCm39) probably benign Het
U2surp A T 9: 95,367,660 (GRCm39) F444I probably damaging Het
Vmn2r95 C T 17: 18,661,664 (GRCm39) P470L probably damaging Het
Zc3h4 T G 7: 16,154,200 (GRCm39) Y163D probably damaging Het
Zfp62 A T 11: 49,106,503 (GRCm39) H198L probably damaging Het
Zmym1 A G 4: 126,952,613 (GRCm39) L56P probably benign Het
Other mutations in Ino80d
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6897:Ino80d UTSW 1 63,104,993 (GRCm39) missense probably damaging 1.00
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'- GGTGCTAAAGTGCTCTTGCCGAAC -3'
(R):5'- GCTCTGCCTTCTGTATATGTGAGGAAC -3'

Sequencing Primer
(F):5'- CGGTTCTGAGCCAACTTGC -3'
(R):5'- TACTGCAACAGCCACTTGCA -3'
Posted On 2013-05-23