Incidental Mutation 'IGL01784:2810021J22Rik'
ID 154230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2810021J22Rik
Ensembl Gene ENSMUSG00000020491
Gene Name RIKEN cDNA 2810021J22 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01784
Quality Score
Status
Chromosome 11
Chromosomal Location 58758042-58774114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58771445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 309 (P309L)
Ref Sequence ENSEMBL: ENSMUSP00000073579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073924] [ENSMUST00000132570]
AlphaFold Q8BIB6
Predicted Effect possibly damaging
Transcript: ENSMUST00000073924
AA Change: P309L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: P309L

DomainStartEndE-ValueType
KRAB 8 68 2.38e-30 SMART
ZnF_C2H2 242 264 1.68e1 SMART
ZnF_C2H2 370 392 1.56e-2 SMART
ZnF_C2H2 398 420 1.03e-2 SMART
ZnF_C2H2 426 448 1.38e-3 SMART
ZnF_C2H2 454 476 3.16e-3 SMART
ZnF_C2H2 482 504 1.6e-4 SMART
ZnF_C2H2 510 532 7.78e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132570
SMART Domains Protein: ENSMUSP00000120692
Gene: ENSMUSG00000020491

DomainStartEndE-ValueType
KRAB 8 64 2.25e-17 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,932,154 (GRCm39) K269N probably benign Het
Abcb5 T C 12: 118,854,399 (GRCm39) T839A probably benign Het
Adcy7 A G 8: 89,040,751 (GRCm39) D30G probably damaging Het
Aldh3b1 A G 19: 3,971,217 (GRCm39) I149T probably benign Het
Ap3b1 A G 13: 94,630,247 (GRCm39) D199G probably damaging Het
Cplx3 T C 9: 57,527,847 (GRCm39) Y36C probably damaging Het
Ddo A G 10: 40,507,784 (GRCm39) probably benign Het
Ensa T A 3: 95,535,844 (GRCm39) probably benign Het
Etnppl A G 3: 130,425,427 (GRCm39) I405V possibly damaging Het
Fam171b T A 2: 83,710,031 (GRCm39) L568M possibly damaging Het
Fmn2 A G 1: 174,329,994 (GRCm39) D128G unknown Het
Fra10ac1 T A 19: 38,208,125 (GRCm39) H43L probably benign Het
Gm7589 T C 9: 59,053,310 (GRCm39) noncoding transcript Het
Gsx1 A G 5: 147,126,939 (GRCm39) D254G probably benign Het
Hoxb6 A G 11: 96,191,639 (GRCm39) E187G probably damaging Het
Kmt2c A T 5: 25,518,524 (GRCm39) I2385N probably damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Mccc1 T G 3: 36,030,897 (GRCm39) N390H probably damaging Het
Mphosph9 T C 5: 124,403,373 (GRCm39) probably benign Het
Nfic T C 10: 81,241,982 (GRCm39) D364G possibly damaging Het
Niban1 T A 1: 151,525,116 (GRCm39) Y174N probably damaging Het
Npy A G 6: 49,806,314 (GRCm39) probably benign Het
Or6c8 C T 10: 128,915,224 (GRCm39) V203M probably benign Het
Osbpl3 A G 6: 50,321,902 (GRCm39) S75P probably damaging Het
Plekhg4 G T 8: 106,105,589 (GRCm39) A685S probably damaging Het
Pramel51 A G 12: 88,143,085 (GRCm39) Y178H probably benign Het
Prss53 T C 7: 127,485,724 (GRCm39) T539A probably benign Het
Rnf43 T A 11: 87,622,632 (GRCm39) S537T possibly damaging Het
Rpgrip1l G A 8: 91,997,089 (GRCm39) T597I possibly damaging Het
Rtn4 C A 11: 29,657,291 (GRCm39) Q482K probably damaging Het
Sema3g T C 14: 30,944,924 (GRCm39) I349T probably damaging Het
Sh3gl1 A C 17: 56,326,325 (GRCm39) S108A possibly damaging Het
Tmc7 A T 7: 118,146,538 (GRCm39) probably null Het
Tmem131 G A 1: 36,854,564 (GRCm39) T131I probably damaging Het
Vac14 T C 8: 111,397,800 (GRCm39) L505P probably benign Het
Wasf2 A G 4: 132,919,439 (GRCm39) Q231R unknown Het
Wnt7a A G 6: 91,342,839 (GRCm39) C348R probably damaging Het
Zkscan6 T A 11: 65,705,547 (GRCm39) L86Q probably damaging Het
Other mutations in 2810021J22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:2810021J22Rik APN 11 58,771,438 (GRCm39) nonsense probably null
IGL02287:2810021J22Rik APN 11 58,771,418 (GRCm39) missense probably benign 0.00
IGL03281:2810021J22Rik APN 11 58,771,601 (GRCm39) missense probably benign 0.01
H8562:2810021J22Rik UTSW 11 58,771,717 (GRCm39) missense probably damaging 1.00
R0480:2810021J22Rik UTSW 11 58,771,012 (GRCm39) missense probably damaging 0.99
R1148:2810021J22Rik UTSW 11 58,767,544 (GRCm39) missense probably damaging 0.97
R1148:2810021J22Rik UTSW 11 58,767,544 (GRCm39) missense probably damaging 0.97
R1493:2810021J22Rik UTSW 11 58,767,544 (GRCm39) missense probably damaging 0.97
R1565:2810021J22Rik UTSW 11 58,771,327 (GRCm39) missense probably benign 0.00
R1676:2810021J22Rik UTSW 11 58,771,819 (GRCm39) missense possibly damaging 0.70
R2070:2810021J22Rik UTSW 11 58,767,595 (GRCm39) missense probably damaging 0.98
R2071:2810021J22Rik UTSW 11 58,767,595 (GRCm39) missense probably damaging 0.98
R4402:2810021J22Rik UTSW 11 58,771,020 (GRCm39) missense probably benign 0.01
R4541:2810021J22Rik UTSW 11 58,769,676 (GRCm39) missense probably benign 0.16
R4685:2810021J22Rik UTSW 11 58,771,750 (GRCm39) missense probably damaging 0.97
R4765:2810021J22Rik UTSW 11 58,771,987 (GRCm39) missense probably benign 0.09
R4968:2810021J22Rik UTSW 11 58,769,616 (GRCm39) nonsense probably null
R5282:2810021J22Rik UTSW 11 58,771,166 (GRCm39) missense possibly damaging 0.84
R5519:2810021J22Rik UTSW 11 58,770,923 (GRCm39) missense probably benign
R6083:2810021J22Rik UTSW 11 58,769,677 (GRCm39) missense possibly damaging 0.73
R6134:2810021J22Rik UTSW 11 58,767,619 (GRCm39) missense probably damaging 1.00
R6334:2810021J22Rik UTSW 11 58,770,940 (GRCm39) missense probably benign
R7108:2810021J22Rik UTSW 11 58,771,750 (GRCm39) missense probably damaging 0.97
R7288:2810021J22Rik UTSW 11 58,771,131 (GRCm39) missense probably benign 0.03
R7310:2810021J22Rik UTSW 11 58,771,094 (GRCm39) missense possibly damaging 0.89
R7422:2810021J22Rik UTSW 11 58,771,885 (GRCm39) missense probably damaging 1.00
R7829:2810021J22Rik UTSW 11 58,770,823 (GRCm39) missense not run
R8237:2810021J22Rik UTSW 11 58,771,373 (GRCm39) missense probably damaging 1.00
R8303:2810021J22Rik UTSW 11 58,770,966 (GRCm39) missense probably benign 0.00
R9453:2810021J22Rik UTSW 11 58,771,054 (GRCm39) missense probably benign 0.01
Z1177:2810021J22Rik UTSW 11 58,770,929 (GRCm39) missense probably damaging 0.99
Z1186:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1187:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1188:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1189:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1190:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1191:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1192:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04