Incidental Mutation 'R0891:4930522L14Rik'
ID 83501
Institutional Source Beutler Lab
Gene Symbol 4930522L14Rik
Ensembl Gene ENSMUSG00000072762
Gene Name RIKEN cDNA 4930522L14 gene
Synonyms Gm42152
MMRRC Submission 039054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R0891 (G1)
Quality Score 150
Status Validated
Chromosome 5
Chromosomal Location 109883856-109899752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109884156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 567 (N567K)
Ref Sequence ENSEMBL: ENSMUSP00000108166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100937] [ENSMUST00000112547]
AlphaFold E9QAG4
Predicted Effect probably benign
Transcript: ENSMUST00000100937
SMART Domains Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762

DomainStartEndE-ValueType
KRAB 4 64 5.37e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112547
AA Change: N567K

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: N567K

DomainStartEndE-ValueType
KRAB 4 66 7.19e-16 SMART
ZnF_C2H2 103 125 2.75e-3 SMART
ZnF_C2H2 131 153 1.72e-4 SMART
ZnF_C2H2 159 181 7.9e-4 SMART
ZnF_C2H2 187 209 1.04e-3 SMART
ZnF_C2H2 215 237 1.1e-2 SMART
ZnF_C2H2 243 265 3.89e-3 SMART
ZnF_C2H2 271 294 3.69e-4 SMART
ZnF_C2H2 300 322 5.9e-3 SMART
ZnF_C2H2 328 350 1.56e-2 SMART
ZnF_C2H2 356 378 1.18e-2 SMART
ZnF_C2H2 384 406 9.08e-4 SMART
ZnF_C2H2 412 434 1.98e-4 SMART
ZnF_C2H2 440 462 2.61e-4 SMART
ZnF_C2H2 468 491 1.38e-3 SMART
ZnF_C2H2 497 519 3.39e-3 SMART
ZnF_C2H2 525 547 1.4e-4 SMART
ZnF_C2H2 553 576 1.95e-3 SMART
ZnF_C2H2 582 604 5.14e-3 SMART
ZnF_C2H2 610 632 1.67e-2 SMART
ZnF_C2H2 638 660 1.72e-4 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 96.7%
  • 20x: 92.2%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 G A 5: 36,119,196 (GRCm39) probably null Het
Angel2 G T 1: 190,677,270 (GRCm39) K517N possibly damaging Het
Ankrd36 A G 11: 5,637,316 (GRCm39) E1295G possibly damaging Het
Ankrd45 A G 1: 160,982,906 (GRCm39) N139S possibly damaging Het
Ano3 T C 2: 110,528,321 (GRCm39) T498A probably benign Het
Arhgap12 T C 18: 6,026,699 (GRCm39) T720A probably damaging Het
Brd10 G A 19: 29,695,053 (GRCm39) T1547I probably damaging Het
Brsk1 A G 7: 4,707,226 (GRCm39) S260G possibly damaging Het
Calml3 A G 13: 3,853,926 (GRCm39) F93S probably damaging Het
Ccnf G T 17: 24,445,751 (GRCm39) H498Q possibly damaging Het
Col27a1 A C 4: 63,223,420 (GRCm39) probably null Het
Cpne5 A G 17: 29,421,893 (GRCm39) probably benign Het
Dcst1 G A 3: 89,260,584 (GRCm39) T560I probably benign Het
Fndc7 A G 3: 108,777,904 (GRCm39) Y351H possibly damaging Het
Gen1 A G 12: 11,298,355 (GRCm39) probably benign Het
Kcnh8 A T 17: 53,212,242 (GRCm39) D680V probably damaging Het
Kmt2d A G 15: 98,750,572 (GRCm39) probably benign Het
Lrrfip1 T A 1: 90,996,337 (GRCm39) I50N probably damaging Het
Mbip A T 12: 56,387,242 (GRCm39) D132E possibly damaging Het
Nipal3 A T 4: 135,195,898 (GRCm39) I235N possibly damaging Het
Nup93 T A 8: 95,007,891 (GRCm39) probably benign Het
Or6b13 A G 7: 139,782,372 (GRCm39) Y104H probably damaging Het
Or6z6 T A 7: 6,491,471 (GRCm39) Y134F probably damaging Het
Pgbd1 T C 13: 21,606,970 (GRCm39) Y408C probably damaging Het
Pigo G A 4: 43,020,519 (GRCm39) Q808* probably null Het
Pik3r1 A T 13: 101,837,974 (GRCm39) N299K probably benign Het
Pip5k1a A G 3: 94,972,831 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,585,442 (GRCm39) H156L possibly damaging Het
Septin5 G C 16: 18,443,595 (GRCm39) T118R probably damaging Het
Smarcal1 T C 1: 72,638,015 (GRCm39) V483A probably damaging Het
Togaram1 A G 12: 65,029,421 (GRCm39) D948G probably benign Het
Vmn2r75 A T 7: 85,813,476 (GRCm39) V442E possibly damaging Het
Zfp57 A G 17: 37,317,068 (GRCm39) K46E probably damaging Het
Other mutations in 4930522L14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:4930522L14Rik APN 5 109,887,101 (GRCm39) missense possibly damaging 0.86
R0164:4930522L14Rik UTSW 5 109,884,713 (GRCm39) missense probably damaging 0.96
R0164:4930522L14Rik UTSW 5 109,884,713 (GRCm39) missense probably damaging 0.96
R0432:4930522L14Rik UTSW 5 109,884,785 (GRCm39) missense probably damaging 1.00
R0463:4930522L14Rik UTSW 5 109,884,926 (GRCm39) unclassified probably benign
R1289:4930522L14Rik UTSW 5 109,884,756 (GRCm39) nonsense probably null
R1637:4930522L14Rik UTSW 5 109,886,858 (GRCm39) missense probably benign 0.01
R1764:4930522L14Rik UTSW 5 109,884,655 (GRCm39) missense probably benign 0.22
R1793:4930522L14Rik UTSW 5 109,884,144 (GRCm39) missense probably damaging 1.00
R1860:4930522L14Rik UTSW 5 109,884,098 (GRCm39) missense probably damaging 1.00
R1899:4930522L14Rik UTSW 5 109,884,664 (GRCm39) missense probably benign 0.04
R2135:4930522L14Rik UTSW 5 109,885,509 (GRCm39) missense probably benign 0.00
R2143:4930522L14Rik UTSW 5 109,884,616 (GRCm39) missense probably damaging 1.00
R2877:4930522L14Rik UTSW 5 109,886,811 (GRCm39) splice site probably benign
R3847:4930522L14Rik UTSW 5 109,884,190 (GRCm39) splice site probably null
R4431:4930522L14Rik UTSW 5 109,884,440 (GRCm39) missense possibly damaging 0.47
R4578:4930522L14Rik UTSW 5 109,884,537 (GRCm39) nonsense probably null
R4611:4930522L14Rik UTSW 5 109,885,259 (GRCm39) missense probably benign 0.00
R4776:4930522L14Rik UTSW 5 109,884,739 (GRCm39) missense probably benign 0.22
R4921:4930522L14Rik UTSW 5 109,885,662 (GRCm39) missense probably benign 0.25
R4937:4930522L14Rik UTSW 5 109,884,067 (GRCm39) missense probably benign 0.12
R4952:4930522L14Rik UTSW 5 109,887,063 (GRCm39) critical splice donor site probably null
R4980:4930522L14Rik UTSW 5 109,885,292 (GRCm39) missense probably damaging 1.00
R5079:4930522L14Rik UTSW 5 109,885,196 (GRCm39) missense probably benign
R5088:4930522L14Rik UTSW 5 109,883,939 (GRCm39) missense probably damaging 1.00
R5143:4930522L14Rik UTSW 5 109,887,064 (GRCm39) critical splice donor site probably null
R5183:4930522L14Rik UTSW 5 109,887,171 (GRCm39) missense probably damaging 1.00
R5461:4930522L14Rik UTSW 5 109,884,643 (GRCm39) missense possibly damaging 0.74
R5498:4930522L14Rik UTSW 5 109,885,413 (GRCm39) missense probably benign 0.05
R5576:4930522L14Rik UTSW 5 109,885,570 (GRCm39) missense probably benign 0.00
R6081:4930522L14Rik UTSW 5 109,887,097 (GRCm39) missense probably damaging 1.00
R6387:4930522L14Rik UTSW 5 109,884,881 (GRCm39) missense possibly damaging 0.88
R6509:4930522L14Rik UTSW 5 109,885,250 (GRCm39) nonsense probably null
R6585:4930522L14Rik UTSW 5 109,885,534 (GRCm39) missense probably damaging 1.00
R7309:4930522L14Rik UTSW 5 109,884,819 (GRCm39) missense probably damaging 1.00
R7740:4930522L14Rik UTSW 5 109,885,370 (GRCm39) nonsense probably null
R7877:4930522L14Rik UTSW 5 109,884,230 (GRCm39) missense probably damaging 1.00
R8526:4930522L14Rik UTSW 5 109,885,655 (GRCm39) missense possibly damaging 0.92
R8884:4930522L14Rik UTSW 5 109,885,354 (GRCm39) missense probably damaging 0.98
R9047:4930522L14Rik UTSW 5 109,885,420 (GRCm39) missense
R9432:4930522L14Rik UTSW 5 109,884,917 (GRCm39) missense unknown
Predicted Primers
Posted On 2013-11-08