Incidental Mutation 'R9170:Ino80d'
ID 696318
Institutional Source Beutler Lab
Gene Symbol Ino80d
Ensembl Gene ENSMUSG00000040865
Gene Name INO80 complex subunit D
Synonyms A430093A21Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9170 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 63086960-63153693 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63132607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 19 (S19P)
Ref Sequence ENSEMBL: ENSMUSP00000130864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097718] [ENSMUST00000133236] [ENSMUST00000137511] [ENSMUST00000153992] [ENSMUST00000165066] [ENSMUST00000172416]
AlphaFold Q66JY2
Predicted Effect probably benign
Transcript: ENSMUST00000097718
SMART Domains Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865

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
SMART Domains Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865

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 probably benign
Transcript: ENSMUST00000137511
SMART Domains Protein: ENSMUSP00000119118
Gene: ENSMUSG00000040865

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 probably benign
Transcript: ENSMUST00000153992
SMART Domains Protein: ENSMUSP00000115332
Gene: ENSMUSG00000040865

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 damaging
Transcript: ENSMUST00000165066
AA Change: S19P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: S19P

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
SMART Domains Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865

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
Meta Mutation Damage Score 0.1584 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,516 (GRCm39) K702E probably benign Het
Agbl1 T C 7: 75,985,069 (GRCm39) I162T Het
Agpat2 A T 2: 26,487,230 (GRCm39) I101N possibly damaging Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Arhgap32 G A 9: 32,162,039 (GRCm39) R330H possibly damaging Het
Asb4 T A 6: 5,390,775 (GRCm39) I56N probably benign Het
Atp2a2 C T 5: 122,604,087 (GRCm39) V449M possibly damaging Het
Bend4 A G 5: 67,575,080 (GRCm39) L267P probably damaging Het
Catspere2 T A 1: 177,967,949 (GRCm39) N745K probably benign Het
Celf2 A G 2: 6,554,646 (GRCm39) F484L possibly damaging Het
Chd3 T C 11: 69,241,648 (GRCm39) D1495G possibly damaging Het
Chrna3 A T 9: 54,933,671 (GRCm39) V8D unknown Het
Cog3 T C 14: 75,966,802 (GRCm39) Y466C probably damaging Het
Col5a1 A G 2: 27,841,363 (GRCm39) E328G unknown Het
Col7a1 A G 9: 108,785,707 (GRCm39) Y392C unknown Het
Crtc3 A T 7: 80,248,697 (GRCm39) N255K probably damaging Het
Dnaaf1 T C 8: 120,302,195 (GRCm39) I32T probably benign Het
Dner A T 1: 84,512,647 (GRCm39) C307S probably damaging Het
Dzip3 T C 16: 48,772,401 (GRCm39) K423E possibly damaging Het
Eif2b4 A G 5: 31,345,393 (GRCm39) S414P probably damaging Het
Elp4 T C 2: 105,624,891 (GRCm39) E334G probably damaging Het
Emilin2 T A 17: 71,587,689 (GRCm39) N141I probably benign Het
Fstl1 T A 16: 37,647,140 (GRCm39) V170E probably damaging Het
Fxn A G 19: 24,244,687 (GRCm39) I151T probably damaging Het
Gtf3c4 A T 2: 28,730,214 (GRCm39) V9E possibly damaging Het
Kank3 T G 17: 34,037,242 (GRCm39) L370R probably damaging Het
Large1 T A 8: 73,542,645 (GRCm39) Y693F probably benign Het
Lig4 C A 8: 10,022,202 (GRCm39) W526L probably damaging Het
Mib1 C T 18: 10,726,437 (GRCm39) P45S probably benign Het
Ndufaf6 T C 4: 11,070,301 (GRCm39) K107E probably benign Het
Nf1 T C 11: 79,436,291 (GRCm39) L1977P probably damaging Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Or52s6 G A 7: 103,091,850 (GRCm39) P160L probably damaging Het
Or52z15 T A 7: 103,332,404 (GRCm39) F160I probably benign Het
Pappa G A 4: 65,258,962 (GRCm39) R1570Q probably damaging Het
Parp6 G A 9: 59,531,213 (GRCm39) A32T Het
Pclo A G 5: 14,731,068 (GRCm39) Q64R Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pramel21 T C 4: 143,341,600 (GRCm39) S10P possibly damaging Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Prf1 A C 10: 61,136,216 (GRCm39) D164A probably damaging Het
Rarres1 A G 3: 67,386,924 (GRCm39) V226A probably damaging Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Rnf123 A G 9: 107,948,375 (GRCm39) L106P probably damaging Het
Scnn1b A T 7: 121,511,326 (GRCm39) T338S probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc9a5 T C 8: 106,080,139 (GRCm39) V94A probably damaging Het
Slco4a1 A G 2: 180,106,478 (GRCm39) D220G probably benign Het
Spata31e2 T A 1: 26,723,485 (GRCm39) Q565L possibly damaging Het
Sult1c2 T C 17: 54,269,200 (GRCm39) D272G possibly damaging Het
Tgm1 T C 14: 55,946,355 (GRCm39) N427S probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Tnni3 A T 7: 4,521,376 (GRCm39) F209L probably damaging Het
Ttn T A 2: 76,745,912 (GRCm39) S5046C probably damaging Het
Tubb2a T A 13: 34,260,628 (GRCm39) I24L probably benign Het
Uevld C A 7: 46,587,746 (GRCm39) G318V probably damaging Het
Unkl T C 17: 25,448,350 (GRCm39) S308P probably benign Het
Vmn1r159 C A 7: 22,542,765 (GRCm39) C89F probably damaging Het
Wee2 T G 6: 40,437,977 (GRCm39) S302A probably benign Het
Ydjc T C 16: 16,965,666 (GRCm39) C144R probably benign Het
Zc3h12c A G 9: 52,027,419 (GRCm39) S667P probably benign Het
Zfp280b T A 10: 75,874,651 (GRCm39) Y177N probably benign Het
Zfp354b C T 11: 50,814,362 (GRCm39) E188K 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
R0416:Ino80d UTSW 1 63,125,435 (GRCm39) missense possibly damaging 0.93
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
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'- ACAGCCCCAGGATTTAACACTG -3'
(R):5'- GCCCCACAGTGAAATTCTCC -3'

Sequencing Primer
(F):5'- GAATGTGGTCTGATACAGTTCTTACC -3'
(R):5'- GTGAAATTCTCCACTTGAGTATGCC -3'
Posted On 2022-02-07