Incidental Mutation 'R6720:Ino80d'
ID 529518
Institutional Source Beutler Lab
Gene Symbol Ino80d
Ensembl Gene ENSMUSG00000040865
Gene Name INO80 complex subunit D
Synonyms A430093A21Rik
MMRRC Submission 044838-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6720 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 62958418-63114667 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 63058610 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 708 (S708R)
Ref Sequence ENSEMBL: ENSMUSP00000127378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097718] [ENSMUST00000133236] [ENSMUST00000137511] [ENSMUST00000153992] [ENSMUST00000165066] [ENSMUST00000172416]
AlphaFold Q66JY2
Predicted Effect probably damaging
Transcript: ENSMUST00000097718
AA Change: S708R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: S708R

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 damaging
Transcript: ENSMUST00000133236
AA Change: S708R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: S708R

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: S813R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: S813R

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 damaging
Transcript: ENSMUST00000172416
AA Change: S708R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: S708R

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 noncoding transcript
Transcript: ENSMUST00000188100
Meta Mutation Damage Score 0.0886 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.6%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,454,686 (GRCm38) E51K possibly damaging Het
Abca1 A C 4: 53,083,733 (GRCm38) L700R probably damaging Het
Arpc1a C A 5: 145,101,222 (GRCm38) probably null Het
Baz2b G T 2: 59,924,890 (GRCm38) P241Q probably damaging Het
Cd6 T A 19: 10,794,609 (GRCm38) T414S probably benign Het
Ces2b A T 8: 104,836,869 (GRCm38) E409D probably benign Het
Cfap54 A G 10: 92,821,119 (GRCm38) Y3024H probably benign Het
Chrm1 A G 19: 8,678,548 (GRCm38) T206A probably benign Het
Clptm1l T C 13: 73,618,516 (GRCm38) W512R probably damaging Het
Col15a1 T A 4: 47,247,552 (GRCm38) probably null Het
Cox15 A G 19: 43,736,789 (GRCm38) S392P probably damaging Het
Cr2 T C 1: 195,155,200 (GRCm38) M1197V probably damaging Het
Ddx60 A G 8: 62,000,689 (GRCm38) K1281E probably benign Het
Dnah11 A G 12: 118,045,646 (GRCm38) F2094L probably damaging Het
Ear2 T A 14: 44,102,959 (GRCm38) C25S probably damaging Het
Ect2l T C 10: 18,140,264 (GRCm38) D802G probably damaging Het
Eftud2 G A 11: 102,838,623 (GRCm38) Q84* probably null Het
Eif4g3 T A 4: 138,175,832 (GRCm38) probably null Het
Ephb2 T C 4: 136,657,502 (GRCm38) D866G probably damaging Het
Fam129b T A 2: 32,905,826 (GRCm38) V22D probably damaging Het
Farsb A G 1: 78,472,497 (GRCm38) M99T probably damaging Het
Foxs1 T A 2: 152,932,720 (GRCm38) S138C probably damaging Het
Frem1 T G 4: 83,013,832 (GRCm38) S211R probably damaging Het
Gm19410 G A 8: 35,807,576 (GRCm38) R1517Q probably benign Het
Gria2 T C 3: 80,802,304 (GRCm38) I27M probably benign Het
H2-Q7 A G 17: 35,442,678 (GRCm38) E299G probably benign Het
Hao2 T G 3: 98,877,135 (GRCm38) I305L probably benign Het
Hectd4 C T 5: 121,307,381 (GRCm38) Q122* probably null Het
Hivep1 T A 13: 42,164,284 (GRCm38) C2079S probably damaging Het
Hoxb1 C A 11: 96,366,987 (GRCm38) Q248K probably damaging Het
Hspb6 A G 7: 30,554,347 (GRCm38) D95G probably benign Het
Ighv5-2 T A 12: 113,578,506 (GRCm38) R117S probably damaging Het
Lman1l A G 9: 57,614,072 (GRCm38) probably null Het
Mmp15 A G 8: 95,365,314 (GRCm38) N51D probably benign Het
Naip1 T C 13: 100,423,077 (GRCm38) M1140V probably benign Het
Olfr1053 A G 2: 86,315,065 (GRCm38) S74P probably damaging Het
Olfr1373 A G 11: 52,144,693 (GRCm38) V279A probably benign Het
Olfr397 A G 11: 73,965,465 (GRCm38) N286D probably damaging Het
Olfr890 T A 9: 38,143,153 (GRCm38) M1K probably null Het
Pard3b A T 1: 62,159,470 (GRCm38) N239I probably damaging Het
Parvb C T 15: 84,297,979 (GRCm38) R237W probably damaging Het
Pcdha9 T C 18: 36,998,069 (GRCm38) S64P probably damaging Het
Pdcd1 T C 1: 94,041,389 (GRCm38) N68S probably benign Het
Pi4ka G T 16: 17,326,052 (GRCm38) probably null Het
Plekha4 A T 7: 45,540,886 (GRCm38) D359V possibly damaging Het
Serpinb13 A G 1: 106,994,062 (GRCm38) I78V probably benign Het
Slc39a7 T A 17: 34,030,108 (GRCm38) T269S probably benign Het
Sltm T G 9: 70,573,710 (GRCm38) D281E probably damaging Het
Zfp708 T C 13: 67,071,432 (GRCm38) Y76C probably damaging Het
Zfp990 T A 4: 145,536,927 (GRCm38) V165D possibly damaging Het
Other mutations in Ino80d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Ino80d APN 1 63,093,303 (GRCm38) missense probably damaging 1.00
IGL01552:Ino80d APN 1 63,057,977 (GRCm38) utr 3 prime probably benign
IGL01960:Ino80d APN 1 63,058,147 (GRCm38) missense probably damaging 0.98
IGL02374:Ino80d APN 1 63,086,061 (GRCm38) missense possibly damaging 0.63
IGL03201:Ino80d APN 1 63,058,308 (GRCm38) missense probably damaging 1.00
IGL03248:Ino80d APN 1 63,068,182 (GRCm38) critical splice donor site probably null
Creepy UTSW 1 63,079,047 (GRCm38) missense possibly damaging 0.88
Friable UTSW 1 63,062,126 (GRCm38) missense probably damaging 1.00
Herpes UTSW 1 63,065,834 (GRCm38) missense probably damaging 1.00
PIT4696001:Ino80d UTSW 1 63,085,986 (GRCm38) missense probably benign
R0153:Ino80d UTSW 1 63,058,318 (GRCm38) missense probably damaging 0.97
R0371:Ino80d UTSW 1 63,057,956 (GRCm38) utr 3 prime probably benign
R0416:Ino80d UTSW 1 63,086,276 (GRCm38) missense possibly damaging 0.93
R1738:Ino80d UTSW 1 63,093,465 (GRCm38) missense probably damaging 1.00
R2341:Ino80d UTSW 1 63,065,826 (GRCm38) missense possibly damaging 0.75
R2351:Ino80d UTSW 1 63,085,835 (GRCm38) missense probably benign 0.00
R2870:Ino80d UTSW 1 63,061,039 (GRCm38) critical splice donor site probably null
R2870:Ino80d UTSW 1 63,061,039 (GRCm38) critical splice donor site probably null
R3814:Ino80d UTSW 1 63,074,424 (GRCm38) missense probably benign 0.05
R3828:Ino80d UTSW 1 63,062,078 (GRCm38) missense possibly damaging 0.94
R3947:Ino80d UTSW 1 63,074,503 (GRCm38) missense probably benign 0.16
R3949:Ino80d UTSW 1 63,074,503 (GRCm38) missense probably benign 0.16
R5180:Ino80d UTSW 1 63,086,329 (GRCm38) start gained probably benign
R5301:Ino80d UTSW 1 63,074,419 (GRCm38) missense probably benign
R5338:Ino80d UTSW 1 63,058,939 (GRCm38) missense probably benign 0.34
R5634:Ino80d UTSW 1 63,062,283 (GRCm38) intron probably benign
R5716:Ino80d UTSW 1 63,058,697 (GRCm38) missense probably benign 0.01
R5841:Ino80d UTSW 1 63,058,840 (GRCm38) missense probably damaging 1.00
R6219:Ino80d UTSW 1 63,079,047 (GRCm38) missense possibly damaging 0.88
R6222:Ino80d UTSW 1 63,058,525 (GRCm38) missense probably damaging 0.99
R6283:Ino80d UTSW 1 63,062,126 (GRCm38) missense probably damaging 1.00
R6835:Ino80d UTSW 1 63,074,326 (GRCm38) missense probably benign
R6897:Ino80d UTSW 1 63,065,834 (GRCm38) missense probably damaging 1.00
R7162:Ino80d UTSW 1 63,065,735 (GRCm38) missense probably damaging 1.00
R7403:Ino80d UTSW 1 63,062,219 (GRCm38) missense possibly damaging 0.52
R7644:Ino80d UTSW 1 63,058,771 (GRCm38) missense probably benign 0.18
R7816:Ino80d UTSW 1 63,086,397 (GRCm38) missense probably damaging 1.00
R8054:Ino80d UTSW 1 63,058,678 (GRCm38) missense possibly damaging 0.62
R9169:Ino80d UTSW 1 63,058,771 (GRCm38) missense probably benign 0.18
R9170:Ino80d UTSW 1 63,093,448 (GRCm38) missense probably damaging 1.00
R9301:Ino80d UTSW 1 63,065,810 (GRCm38) missense probably damaging 1.00
R9462:Ino80d UTSW 1 63,058,234 (GRCm38) missense probably damaging 1.00
R9618:Ino80d UTSW 1 63,062,183 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGACCACTCCTCCAAGTG -3'
(R):5'- CTGGACGAGAACCTACTCCATTC -3'

Sequencing Primer
(F):5'- AAGTGGCACCTCGAGCTGTG -3'
(R):5'- AGATCCAGGGGCAGTTCTCTG -3'
Posted On 2018-08-01