Incidental Mutation 'R1163:4930579F01Rik'
ID 100574
Institutional Source Beutler Lab
Gene Symbol 4930579F01Rik
Ensembl Gene ENSMUSG00000012042
Gene Name RIKEN cDNA 4930579F01 gene
Synonyms
MMRRC Submission 039236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R1163 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 137869839-137899592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 137882271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 18 (D18A)
Ref Sequence ENSEMBL: ENSMUSP00000142940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]
AlphaFold A0A5F8MPV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000012186
AA Change: D143A

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: D143A

DomainStartEndE-ValueType
Pfam:SPATIAL 17 201 1.9e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199293
AA Change: D18A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042
AA Change: D18A

DomainStartEndE-ValueType
Pfam:SPATIAL 1 76 9.6e-27 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 86,957,284 (GRCm39) Y7N probably damaging Het
Abca8a T C 11: 109,962,356 (GRCm39) D499G probably benign Het
Adamts1 G C 16: 85,599,525 (GRCm39) A25G probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Akap3 A G 6: 126,841,750 (GRCm39) D123G probably damaging Het
Ankar C T 1: 72,727,864 (GRCm39) V350I possibly damaging Het
Apob A G 12: 8,061,654 (GRCm39) T3379A probably damaging Het
Ash1l G T 3: 88,942,570 (GRCm39) probably null Het
Atp2b1 T C 10: 98,815,713 (GRCm39) I119T possibly damaging Het
B3gnt2 A T 11: 22,786,558 (GRCm39) M210K probably benign Het
Bcl11a A G 11: 24,115,143 (GRCm39) N829D probably benign Het
Btnl4 T C 17: 34,689,049 (GRCm39) E337G possibly damaging Het
Casr A T 16: 36,315,169 (GRCm39) V967D probably damaging Het
Cd200 A T 16: 45,212,715 (GRCm39) V244D probably damaging Het
Cd200r4 A G 16: 44,658,383 (GRCm39) N256D probably benign Het
Cep68 A G 11: 20,190,539 (GRCm39) S158P probably damaging Het
Chst10 A T 1: 38,910,783 (GRCm39) V123D probably damaging Het
Cobll1 T C 2: 64,928,623 (GRCm39) H938R probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dmkn T G 7: 30,464,476 (GRCm39) C205G probably damaging Het
Dock8 A G 19: 25,028,867 (GRCm39) I24V probably benign Het
Dpp3 C T 19: 4,964,951 (GRCm39) W488* probably null Het
Dpp9 C A 17: 56,506,426 (GRCm39) A365S possibly damaging Het
Egfr A T 11: 16,833,546 (GRCm39) T605S probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83g T C 11: 61,594,262 (GRCm39) S599P probably damaging Het
Fscn1 G T 5: 142,946,598 (GRCm39) W132L probably damaging Het
Gbp2b A G 3: 142,304,857 (GRCm39) T98A probably damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Golgb1 G T 16: 36,736,488 (GRCm39) V1912L possibly damaging Het
Gon4l T C 3: 88,799,842 (GRCm39) L829P probably damaging Het
Grm3 T A 5: 9,620,738 (GRCm39) I169L probably benign Het
Gsdma2 A G 11: 98,541,684 (GRCm39) D137G probably damaging Het
Hhip T C 8: 80,719,105 (GRCm39) Y474C probably damaging Het
Hsph1 A T 5: 149,554,266 (GRCm39) V163E probably damaging Het
Ifi203 T C 1: 173,751,703 (GRCm39) K373E probably damaging Het
Itsn2 A G 12: 4,762,009 (GRCm39) T1540A probably benign Het
Kdm1b T C 13: 47,225,398 (GRCm39) V527A probably benign Het
Kdm5d G A Y: 898,029 (GRCm39) A22T probably benign Het
Khdrbs1 A T 4: 129,619,379 (GRCm39) F254Y possibly damaging Het
Kif26a T C 12: 112,146,379 (GRCm39) F1822L probably benign Het
Krt1 C A 15: 101,756,600 (GRCm39) E308* probably null Het
Lrrc47 T A 4: 154,096,274 (GRCm39) M1K probably null Het
Mrgpra4 A T 7: 47,631,224 (GRCm39) W126R probably damaging Het
Nlrp4e G A 7: 23,020,397 (GRCm39) V295I probably benign Het
Or1l4b A T 2: 37,037,039 (GRCm39) T272S probably damaging Het
Or2f1 G A 6: 42,721,057 (GRCm39) V29I probably benign Het
Or4c10 G T 2: 89,760,449 (GRCm39) V99F possibly damaging Het
Or5ac19 A G 16: 59,089,518 (GRCm39) S171P probably benign Het
Or5ac24 A T 16: 59,165,425 (GRCm39) I213N probably damaging Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Or6c66 A G 10: 129,461,516 (GRCm39) V138A possibly damaging Het
Or8h10 A G 2: 86,809,020 (GRCm39) L40P probably damaging Het
Or8k41 A T 2: 86,313,582 (GRCm39) F168Y probably damaging Het
Plec G T 15: 76,068,038 (GRCm39) N1190K possibly damaging Het
Plin1 T C 7: 79,379,719 (GRCm39) T44A probably damaging Het
Pou3f2 TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 4: 22,487,697 (GRCm39) probably benign Het
Pramel22 A G 4: 143,383,204 (GRCm39) L5P probably damaging Het
Psg27 A G 7: 18,299,234 (GRCm39) L29P probably damaging Het
Psmd13 C A 7: 140,477,367 (GRCm39) T292N probably damaging Het
Rab1b A T 19: 5,154,684 (GRCm39) Y88* probably null Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rmdn2 A T 17: 79,966,880 (GRCm39) M257L probably benign Het
Rnd1 A T 15: 98,574,435 (GRCm39) F47L probably damaging Het
Rnf41 G A 10: 128,274,076 (GRCm39) V243I probably benign Het
Rnf43 C G 11: 87,620,339 (GRCm39) S226R probably damaging Het
Scn5a A T 9: 119,362,993 (GRCm39) D542E probably damaging Het
Sema5b A T 16: 35,448,466 (GRCm39) I81F probably benign Het
Serinc5 G A 13: 92,819,285 (GRCm39) C73Y probably damaging Het
Serpina3g A T 12: 104,205,551 (GRCm39) N97Y possibly damaging Het
Shq1 A G 6: 100,614,033 (GRCm39) S262P probably damaging Het
Smad4 A T 18: 73,781,978 (GRCm39) I428N probably damaging Het
Snip1 G T 4: 124,966,613 (GRCm39) G348W probably damaging Het
Spg11 A G 2: 121,901,422 (GRCm39) L1506P probably damaging Het
Stard9 G A 2: 120,526,694 (GRCm39) V984I possibly damaging Het
Svopl A T 6: 38,006,635 (GRCm39) F121I possibly damaging Het
Tjp1 A T 7: 64,972,802 (GRCm39) V546E probably damaging Het
Tmem116 T A 5: 121,631,819 (GRCm39) F110L probably damaging Het
Ttyh2 C T 11: 114,601,714 (GRCm39) T446M probably benign Het
Tubb1 A T 2: 174,299,532 (GRCm39) I405L probably benign Het
Uba5 A T 9: 103,933,025 (GRCm39) F155L possibly damaging Het
Ubd C T 17: 37,506,212 (GRCm39) H33Y probably damaging Het
Ube3d A T 9: 86,322,648 (GRCm39) D175E probably benign Het
Usp24 A G 4: 106,278,157 (GRCm39) Q2293R probably benign Het
Vmn1r175 T A 7: 23,507,937 (GRCm39) H230L probably benign Het
Vmn1r88 A G 7: 12,912,060 (GRCm39) I139V probably benign Het
Vmn2r1 T C 3: 63,994,046 (GRCm39) F131L probably benign Het
Yipf3 T C 17: 46,562,155 (GRCm39) probably null Het
Zdhhc19 A G 16: 32,325,258 (GRCm39) K192R probably benign Het
Zfy1 G A Y: 725,611 (GRCm39) T718I probably damaging Het
Other mutations in 4930579F01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:4930579F01Rik APN 3 137,891,959 (GRCm39) intron probably benign
IGL02121:4930579F01Rik APN 3 137,870,134 (GRCm39) missense possibly damaging 0.93
IGL02424:4930579F01Rik APN 3 137,880,466 (GRCm39) splice site probably benign
R0008:4930579F01Rik UTSW 3 137,882,346 (GRCm39) missense possibly damaging 0.67
R0008:4930579F01Rik UTSW 3 137,882,346 (GRCm39) missense possibly damaging 0.67
R0373:4930579F01Rik UTSW 3 137,879,343 (GRCm39) missense probably damaging 0.96
R1082:4930579F01Rik UTSW 3 137,879,332 (GRCm39) missense possibly damaging 0.95
R1538:4930579F01Rik UTSW 3 137,889,517 (GRCm39) missense probably damaging 1.00
R2151:4930579F01Rik UTSW 3 137,882,217 (GRCm39) critical splice donor site probably null
R2364:4930579F01Rik UTSW 3 137,871,584 (GRCm39) missense probably benign 0.00
R3978:4930579F01Rik UTSW 3 137,889,435 (GRCm39) missense probably benign 0.01
R4108:4930579F01Rik UTSW 3 137,889,431 (GRCm39) missense probably benign 0.14
R5812:4930579F01Rik UTSW 3 137,882,299 (GRCm39) missense probably damaging 1.00
R5960:4930579F01Rik UTSW 3 137,889,528 (GRCm39) missense possibly damaging 0.58
R6329:4930579F01Rik UTSW 3 137,879,457 (GRCm39) missense probably damaging 1.00
R6599:4930579F01Rik UTSW 3 137,882,250 (GRCm39) missense probably benign 0.00
R6862:4930579F01Rik UTSW 3 137,891,949 (GRCm39) intron probably benign
R6897:4930579F01Rik UTSW 3 137,889,534 (GRCm39) missense possibly damaging 0.85
R7092:4930579F01Rik UTSW 3 137,889,506 (GRCm39) missense probably benign 0.08
R7919:4930579F01Rik UTSW 3 137,885,311 (GRCm39) missense probably damaging 1.00
R8381:4930579F01Rik UTSW 3 137,879,282 (GRCm39) critical splice donor site probably null
R9024:4930579F01Rik UTSW 3 137,891,923 (GRCm39) missense unknown
R9180:4930579F01Rik UTSW 3 137,889,470 (GRCm39) missense probably benign 0.05
Predicted Primers
Posted On 2014-01-15