Incidental Mutation 'R5426:2010315B03Rik'
ID 426894
Institutional Source Beutler Lab
Gene Symbol 2010315B03Rik
Ensembl Gene ENSMUSG00000074829
Gene Name RIKEN cDNA 2010315B03 gene
Synonyms
MMRRC Submission 042992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5426 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 124291804-124312696 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124294003 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 122 (H122L)
Ref Sequence ENSEMBL: ENSMUSP00000140144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071300] [ENSMUST00000177714] [ENSMUST00000185949] [ENSMUST00000189915]
AlphaFold J3QK55
Predicted Effect probably damaging
Transcript: ENSMUST00000071300
AA Change: H118L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
AA Change: H118L

DomainStartEndE-ValueType
KRAB 24 86 5.28e-14 SMART
ZnF_C2H2 95 117 5.9e-3 SMART
ZnF_C2H2 123 145 1.26e-2 SMART
ZnF_C2H2 151 173 2.95e-3 SMART
ZnF_C2H2 179 201 4.24e-4 SMART
ZnF_C2H2 207 229 1.38e-3 SMART
ZnF_C2H2 235 257 3.21e-4 SMART
ZnF_C2H2 263 285 1.26e-2 SMART
ZnF_C2H2 291 312 6.08e0 SMART
ZnF_C2H2 318 340 8.6e-5 SMART
ZnF_C2H2 346 368 1.36e-2 SMART
ZnF_C2H2 374 396 8.02e-5 SMART
ZnF_C2H2 402 424 9.58e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000177714
AA Change: H97L
SMART Domains Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
AA Change: H97L

DomainStartEndE-ValueType
KRAB 28 90 5.28e-14 SMART
ZnF_C2H2 99 121 5.9e-3 SMART
ZnF_C2H2 127 149 1.26e-2 SMART
ZnF_C2H2 155 177 2.95e-3 SMART
ZnF_C2H2 183 205 4.24e-4 SMART
ZnF_C2H2 211 233 1.38e-3 SMART
ZnF_C2H2 239 261 3.21e-4 SMART
ZnF_C2H2 267 289 1.26e-2 SMART
ZnF_C2H2 295 316 6.08e0 SMART
ZnF_C2H2 322 344 8.6e-5 SMART
ZnF_C2H2 350 372 1.36e-2 SMART
ZnF_C2H2 378 400 8.02e-5 SMART
ZnF_C2H2 406 428 9.58e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185949
AA Change: H122L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
AA Change: H122L

DomainStartEndE-ValueType
KRAB 29 91 2.3e-16 SMART
ZnF_C2H2 100 122 2.5e-5 SMART
ZnF_C2H2 128 150 5.3e-5 SMART
ZnF_C2H2 156 175 5.1e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000189915
AA Change: H94L
SMART Domains Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829
AA Change: H94L

DomainStartEndE-ValueType
KRAB 1 63 2.3e-16 SMART
ZnF_C2H2 72 94 2.5e-5 SMART
ZnF_C2H2 100 122 5.3e-5 SMART
ZnF_C2H2 128 150 1.2e-5 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182O14Rik G A 15: 40,148,537 (GRCm38) D91N unknown Het
9330182O14Rik G A 15: 40,148,536 (GRCm38) M90I unknown Het
Abca13 T A 11: 9,290,722 (GRCm38) S862T probably damaging Het
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adgb C A 10: 10,350,260 (GRCm38) A1405S probably benign Het
Adpgk T A 9: 59,297,549 (GRCm38) V86E probably damaging Het
Agfg2 G C 5: 137,667,758 (GRCm38) P80A probably damaging Het
Akap11 G A 14: 78,498,864 (GRCm38) Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 (GRCm38) R62Q probably benign Het
Amd1 G T 10: 40,290,187 (GRCm38) D265E probably damaging Het
Aox4 A T 1: 58,220,094 (GRCm38) Q106L probably damaging Het
Arap2 A T 5: 62,642,816 (GRCm38) N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 (GRCm38) S874G probably damaging Het
Ccdc166 T C 15: 75,982,096 (GRCm38) Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdk14 A G 5: 4,888,975 (GRCm38) S388P possibly damaging Het
Chgb A T 2: 132,793,533 (GRCm38) Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 (GRCm38) W109R probably damaging Het
Cspg4b G A 13: 113,369,053 (GRCm38) V2239I probably benign Het
Cyp2b9 T C 7: 26,187,655 (GRCm38) V163A probably benign Het
Dcpp2 T A 17: 23,899,313 (GRCm38) H27Q possibly damaging Het
Ddn T A 15: 98,806,466 (GRCm38) E315V possibly damaging Het
Defb29 C A 2: 152,538,948 (GRCm38) C47F probably damaging Het
Dnah7b T C 1: 46,242,206 (GRCm38) M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 (GRCm38) I854F probably damaging Het
Dsg4 T C 18: 20,458,484 (GRCm38) Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 (GRCm38) A23T unknown Het
Flacc1 T A 1: 58,666,886 (GRCm38) K275* probably null Het
Gemin5 A G 11: 58,125,287 (GRCm38) S1297P probably benign Het
Gm10309 A C 17: 86,498,733 (GRCm38) probably benign Het
Gpatch11 T A 17: 78,841,234 (GRCm38) S155R possibly damaging Het
Grin2b C A 6: 135,732,368 (GRCm38) Q1393H probably damaging Het
Heatr5b C T 17: 78,773,713 (GRCm38) C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 (GRCm38) T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 (GRCm38) I123F probably damaging Het
Kalrn A T 16: 34,262,653 (GRCm38) V644D probably damaging Het
Kifap3 A G 1: 163,779,871 (GRCm38) M1V probably null Het
Klhl11 A G 11: 100,464,116 (GRCm38) L293P probably damaging Het
Klrc3 G A 6: 129,641,550 (GRCm38) S98L probably benign Het
Lrrc37 A T 11: 103,620,760 (GRCm38) H127Q unknown Het
Med12l G A 3: 59,248,722 (GRCm38) M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 (GRCm38) probably null Het
Mybpc2 A G 7: 44,509,829 (GRCm38) V599A probably benign Het
Naalad2 T C 9: 18,347,519 (GRCm38) N487D probably benign Het
Nat8f7 T G 6: 85,707,823 (GRCm38) S12R probably benign Het
Nefm T A 14: 68,120,066 (GRCm38) probably benign Het
Nlrp5 T C 7: 23,418,201 (GRCm38) V450A probably damaging Het
Nps G A 7: 135,268,647 (GRCm38) probably null Het
Or13c7d A G 4: 43,770,168 (GRCm38) I281T probably benign Het
Or2ag16 C A 7: 106,752,566 (GRCm38) S274I probably benign Het
Or4a74 T C 2: 89,609,739 (GRCm38) Y121C probably damaging Het
Or4b13 T A 2: 90,252,611 (GRCm38) K126* probably null Het
Or5e1 T C 7: 108,755,717 (GRCm38) L287P possibly damaging Het
Or5h24 G T 16: 59,098,302 (GRCm38) P230Q possibly damaging Het
Or5p67 T C 7: 108,322,810 (GRCm38) N289D probably damaging Het
Oxct2a C A 4: 123,322,713 (GRCm38) G292W possibly damaging Het
Pramel32 T A 4: 88,629,410 (GRCm38) probably benign Het
Prr27 T C 5: 87,850,885 (GRCm38) probably benign Het
Ptx3 T C 3: 66,220,722 (GRCm38) M68T probably damaging Het
Rufy1 A G 11: 50,421,734 (GRCm38) L131S probably damaging Het
Septin7 T A 9: 25,286,690 (GRCm38) I100N possibly damaging Het
Sgms2 T C 3: 131,341,797 (GRCm38) I143V probably benign Het
Slc25a34 A G 4: 141,623,566 (GRCm38) V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 (GRCm38) D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 (GRCm38) probably null Het
Slco4a1 C A 2: 180,471,235 (GRCm38) A420D possibly damaging Het
Smap1 T C 1: 23,849,390 (GRCm38) T180A probably benign Het
Specc1l T C 10: 75,267,550 (GRCm38) S920P probably benign Het
Tgtp2 A G 11: 49,059,256 (GRCm38) M163T probably benign Het
Tiam1 G T 16: 89,865,392 (GRCm38) Q613K possibly damaging Het
Vsig10l T A 7: 43,464,823 (GRCm38) S190T probably damaging Het
Vwa3b A G 1: 37,115,671 (GRCm38) Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 (GRCm38) N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 (GRCm38) G349R probably damaging Het
Wdr70 A G 15: 7,922,105 (GRCm38) L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 (GRCm38) S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 (GRCm38) C391* probably null Het
Zfp638 A G 6: 83,976,414 (GRCm38) E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 (GRCm38) D192V probably benign Het
Zfp853 T G 5: 143,288,869 (GRCm38) Q332P unknown Het
Other mutations in 2010315B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:2010315B03Rik APN 9 124,295,490 (GRCm38) splice site probably benign
P4748:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0090:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0122:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0140:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0164:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0164:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0388:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0775:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R0798:2010315B03Rik UTSW 9 124,295,159 (GRCm38) critical splice acceptor site probably benign
R1467:2010315B03Rik UTSW 9 124,295,463 (GRCm38) missense possibly damaging 0.91
R1569:2010315B03Rik UTSW 9 124,293,797 (GRCm38) nonsense probably null
R2566:2010315B03Rik UTSW 9 124,293,153 (GRCm38) missense probably damaging 0.99
R2566:2010315B03Rik UTSW 9 124,293,071 (GRCm38) missense probably damaging 0.97
R3853:2010315B03Rik UTSW 9 124,293,346 (GRCm38) missense probably damaging 1.00
R4092:2010315B03Rik UTSW 9 124,293,273 (GRCm38) missense probably benign 0.03
R4109:2010315B03Rik UTSW 9 124,295,103 (GRCm38) missense probably benign 0.01
R4646:2010315B03Rik UTSW 9 124,293,598 (GRCm38) missense probably benign 0.00
R4648:2010315B03Rik UTSW 9 124,293,598 (GRCm38) missense probably benign 0.00
R4705:2010315B03Rik UTSW 9 124,294,001 (GRCm38) missense possibly damaging 0.86
R4764:2010315B03Rik UTSW 9 124,293,766 (GRCm38) missense probably benign 0.01
R5110:2010315B03Rik UTSW 9 124,295,357 (GRCm38) critical splice donor site probably null
R5117:2010315B03Rik UTSW 9 124,293,085 (GRCm38) missense probably benign 0.00
R5162:2010315B03Rik UTSW 9 124,293,671 (GRCm38) missense probably benign 0.08
R5226:2010315B03Rik UTSW 9 124,294,076 (GRCm38) missense possibly damaging 0.91
R6793:2010315B03Rik UTSW 9 124,295,422 (GRCm38) missense possibly damaging 0.85
R6975:2010315B03Rik UTSW 9 124,294,057 (GRCm38) missense probably benign 0.02
R7213:2010315B03Rik UTSW 9 124,293,900 (GRCm38) nonsense probably null
R8011:2010315B03Rik UTSW 9 124,293,899 (GRCm38) missense
R8086:2010315B03Rik UTSW 9 124,293,178 (GRCm38) missense
R8117:2010315B03Rik UTSW 9 124,295,448 (GRCm38) missense
R8363:2010315B03Rik UTSW 9 124,293,170 (GRCm38) missense
R8941:2010315B03Rik UTSW 9 124,294,049 (GRCm38) missense probably benign 0.05
R9523:2010315B03Rik UTSW 9 124,294,022 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- TGTGACGTGAATAGGCTTTACCA -3'
(R):5'- ACAGGTATTGTCAAAGATGCCTAAGA -3'

Sequencing Primer
(F):5'- CGTGAATAGGCTTTACCACATTGGC -3'
(R):5'- GTGATACAATCCTAGAATCTGATTCC -3'
Posted On 2016-09-01