Incidental Mutation 'R9210:2610028H24Rik'
ID 698802
Institutional Source Beutler Lab
Gene Symbol 2610028H24Rik
Ensembl Gene ENSMUSG00000009114
Gene Name RIKEN cDNA 2610028H24 gene
Synonyms ORF67
MMRRC Submission 068983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9210 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76284915-76296944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76287165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000090061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092406] [ENSMUST00000105415]
AlphaFold G5E8K1
Predicted Effect probably damaging
Transcript: ENSMUST00000092406
AA Change: D40G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: D40G

DomainStartEndE-ValueType
low complexity region 13 27 N/A INTRINSIC
low complexity region 94 140 N/A INTRINSIC
Pfam:DUF4587 145 216 7.6e-33 PFAM
low complexity region 223 235 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105415
AA Change: D19G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114
AA Change: D19G

DomainStartEndE-ValueType
low complexity region 73 119 N/A INTRINSIC
Pfam:DUF4587 124 195 4.4e-34 PFAM
low complexity region 202 214 N/A INTRINSIC
Meta Mutation Damage Score 0.1362 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,075,767 (GRCm39) D790G probably damaging Het
Abcb4 C T 5: 9,005,591 (GRCm39) P1158L probably damaging Het
Acod1 T C 14: 103,292,526 (GRCm39) V350A possibly damaging Het
Acot2 C A 12: 84,034,851 (GRCm39) P59Q probably damaging Het
Acyp1 A T 12: 85,326,820 (GRCm39) V10E possibly damaging Het
Adhfe1 A T 1: 9,637,036 (GRCm39) D396V possibly damaging Het
Agbl3 C T 6: 34,775,177 (GRCm39) T161I probably damaging Het
Ang6 T C 14: 44,239,407 (GRCm39) N107S probably benign Het
Arhgap28 A G 17: 68,162,430 (GRCm39) M639T probably benign Het
Arpc5 A G 1: 152,642,603 (GRCm39) D43G probably null Het
Asxl3 T C 18: 22,655,389 (GRCm39) I1133T probably benign Het
Atp7b T C 8: 22,487,406 (GRCm39) D1303G probably damaging Het
C2cd4b G A 9: 67,667,028 (GRCm39) R8H probably damaging Het
Catsper1 T A 19: 5,391,535 (GRCm39) V639E probably benign Het
Cbr1b A C 16: 93,427,127 (GRCm39) S243R possibly damaging Het
Ccdc113 T C 8: 96,283,874 (GRCm39) F316S probably damaging Het
Ccdc91 A G 6: 147,508,398 (GRCm39) I375V unknown Het
Cfap65 G A 1: 74,959,567 (GRCm39) T861I probably benign Het
Chd1 T G 17: 15,950,767 (GRCm39) S153A possibly damaging Het
Cln6 A G 9: 62,757,973 (GRCm39) H244R probably damaging Het
Cnn2 A T 10: 79,828,373 (GRCm39) M117L probably benign Het
Col19a1 A T 1: 24,500,555 (GRCm39) probably null Het
Csgalnact1 T C 8: 68,914,241 (GRCm39) probably benign Het
Dhx57 T G 17: 80,576,338 (GRCm39) D584A probably damaging Het
Dnaaf2 G A 12: 69,244,602 (GRCm39) A153V probably damaging Het
Egfem1 T G 3: 29,207,743 (GRCm39) C144W probably damaging Het
Ercc6 T A 14: 32,291,822 (GRCm39) I1062N probably benign Het
Ermap A T 4: 119,035,706 (GRCm39) C427* probably null Het
Fam193a T C 5: 34,597,481 (GRCm39) V94A probably benign Het
Fbxl14 T C 6: 119,457,635 (GRCm39) M272T probably benign Het
Grm7 T A 6: 110,622,869 (GRCm39) M14K probably benign Het
Herc6 A G 6: 57,639,350 (GRCm39) Y906C probably damaging Het
Hps4 C A 5: 112,497,227 (GRCm39) T70N possibly damaging Het
Hspg2 A G 4: 137,289,790 (GRCm39) H3880R probably benign Het
Hus1b A C 13: 31,130,858 (GRCm39) I267S possibly damaging Het
Igkv13-84 G T 6: 68,916,886 (GRCm39) G61V probably damaging Het
Mrgprb2 A T 7: 48,202,392 (GRCm39) V111D possibly damaging Het
Mta3 A T 17: 84,015,846 (GRCm39) N16I probably damaging Het
Mtus2 T A 5: 148,014,124 (GRCm39) S306T probably benign Het
Ncl G A 1: 86,280,239 (GRCm39) P523S probably benign Het
Npepps G T 11: 97,129,047 (GRCm39) A379E probably damaging Het
Ntng1 A T 3: 109,779,633 (GRCm39) C315S probably damaging Het
Nyap2 C T 1: 81,219,042 (GRCm39) P355S probably damaging Het
Or5p54 C A 7: 107,554,017 (GRCm39) H56Q probably benign Het
Orc2 A G 1: 58,515,695 (GRCm39) L271P probably damaging Het
Pck2 G A 14: 55,779,907 (GRCm39) R52H probably benign Het
Pikfyve T C 1: 65,291,719 (GRCm39) S1313P probably damaging Het
Pink1 A G 4: 138,053,278 (GRCm39) F85L probably benign Het
Ppp2r3d T C 9: 101,063,175 (GRCm39) T154A probably benign Het
Prkg2 T C 5: 99,095,333 (GRCm39) T613A probably damaging Het
Ptprz1 A G 6: 23,050,493 (GRCm39) M2254V probably damaging Het
Rabgap1 T C 2: 37,377,152 (GRCm39) V328A probably damaging Het
Rag1 T C 2: 101,474,852 (GRCm39) S97G probably benign Het
Rai1 C T 11: 60,080,217 (GRCm39) P1427L probably benign Het
Rrp15 G C 1: 186,471,922 (GRCm39) A95G probably damaging Het
Rttn T C 18: 89,064,286 (GRCm39) probably null Het
Ryr2 A C 13: 11,844,560 (GRCm39) I392S probably damaging Het
Scoc T C 8: 84,162,543 (GRCm39) K121R possibly damaging Het
Septin5 A T 16: 18,442,961 (GRCm39) I206K possibly damaging Het
Sh2d2a C A 3: 87,756,655 (GRCm39) L167I probably damaging Het
Slc5a2 C A 7: 127,867,939 (GRCm39) Q202K probably damaging Het
Slco4a1 A T 2: 180,114,271 (GRCm39) S518C probably damaging Het
Tbc1d2b A T 9: 90,087,183 (GRCm39) L932Q possibly damaging Het
Tex15 T A 8: 34,064,319 (GRCm39) Y1250N possibly damaging Het
Tln1 G T 4: 43,536,119 (GRCm39) T2022K probably damaging Het
Trpc4 T A 3: 54,173,741 (GRCm39) F378L probably benign Het
Ush2a A T 1: 188,516,866 (GRCm39) Q3192L probably null Het
Usp40 A T 1: 87,885,035 (GRCm39) W938R possibly damaging Het
Wdr24 T C 17: 26,043,472 (GRCm39) V98A probably benign Het
Zfp280d A G 9: 72,269,789 (GRCm39) *975W probably null Het
Zfp317 A T 9: 19,558,442 (GRCm39) K219* probably null Het
Zfp986 A G 4: 145,625,798 (GRCm39) K153E probably benign Het
Zmiz2 T A 11: 6,346,277 (GRCm39) S71T possibly damaging Het
Other mutations in 2610028H24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02400:2610028H24Rik APN 10 76,290,644 (GRCm39) missense possibly damaging 0.75
IGL02951:2610028H24Rik APN 10 76,290,536 (GRCm39) splice site probably benign
PIT4283001:2610028H24Rik UTSW 10 76,285,093 (GRCm39) start codon destroyed probably benign 0.01
R0013:2610028H24Rik UTSW 10 76,293,346 (GRCm39) missense probably benign 0.32
R0295:2610028H24Rik UTSW 10 76,290,642 (GRCm39) missense probably damaging 0.99
R2018:2610028H24Rik UTSW 10 76,293,899 (GRCm39) missense possibly damaging 0.85
R2019:2610028H24Rik UTSW 10 76,293,899 (GRCm39) missense possibly damaging 0.85
R2128:2610028H24Rik UTSW 10 76,293,349 (GRCm39) missense possibly damaging 0.93
R2129:2610028H24Rik UTSW 10 76,293,349 (GRCm39) missense possibly damaging 0.93
R4776:2610028H24Rik UTSW 10 76,293,346 (GRCm39) missense probably benign 0.16
R5638:2610028H24Rik UTSW 10 76,288,729 (GRCm39) missense probably benign 0.17
R5808:2610028H24Rik UTSW 10 76,286,482 (GRCm39) missense probably damaging 1.00
R5896:2610028H24Rik UTSW 10 76,288,664 (GRCm39) missense probably benign 0.01
R5990:2610028H24Rik UTSW 10 76,285,123 (GRCm39) missense probably benign 0.08
R6238:2610028H24Rik UTSW 10 76,285,096 (GRCm39) missense possibly damaging 0.86
R6505:2610028H24Rik UTSW 10 76,285,115 (GRCm39) missense probably benign 0.02
R7741:2610028H24Rik UTSW 10 76,290,551 (GRCm39) missense probably damaging 0.99
R9558:2610028H24Rik UTSW 10 76,290,576 (GRCm39) missense probably damaging 1.00
X0026:2610028H24Rik UTSW 10 76,293,925 (GRCm39) missense possibly damaging 0.91
Z1176:2610028H24Rik UTSW 10 76,288,697 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGACTCTAACCAGGTCTTTC -3'
(R):5'- GCAAACATTAGCTAATTGGCCCC -3'

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