Incidental Mutation 'R4431:4930522L14Rik'
ID 328608
Institutional Source Beutler Lab
Gene Symbol 4930522L14Rik
Ensembl Gene ENSMUSG00000072762
Gene Name RIKEN cDNA 4930522L14 gene
Synonyms Gm42152
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 109883856-109899752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109884440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 473 (C473S)
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: C473S

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: C473S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S 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
R0891:4930522L14Rik UTSW 5 109,884,156 (GRCm39) missense possibly damaging 0.47
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
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 PCR Primer
(F):5'- ATCACACTTGTAAGGTGTCTCTTC -3'
(R):5'- TGTAAGCAATGTGGCAAAGC -3'

Sequencing Primer
(F):5'- GCCACACTGATCACATTTGTAAGG -3'
(R):5'- TACATACTGGAGAGAAACCCTATG -3'
Posted On 2015-07-21