Incidental Mutation 'R6862:4930579F01Rik'
ID 535677
Institutional Source Beutler Lab
Gene Symbol 4930579F01Rik
Ensembl Gene ENSMUSG00000012042
Gene Name RIKEN cDNA 4930579F01 gene
Synonyms
MMRRC Submission 045026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R6862 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137869839-137899592 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 137891949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]
AlphaFold A0A5F8MPV9
Predicted Effect unknown
Transcript: ENSMUST00000012186
AA Change: G7E
SMART Domains Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: G7E

DomainStartEndE-ValueType
Pfam:SPATIAL 17 201 1.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199293
SMART Domains Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042

DomainStartEndE-ValueType
Pfam:SPATIAL 1 76 9.6e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T A 8: 27,603,465 (GRCm39) C417S probably damaging Het
Adgra2 C A 8: 27,603,464 (GRCm39) H416Q probably benign Het
Aff3 C A 1: 38,445,578 (GRCm39) R307L possibly damaging Het
Arhgap17 T C 7: 122,921,124 (GRCm39) D121G probably damaging Het
Ascc3 G T 10: 50,725,742 (GRCm39) R2155I probably null Het
Ccdc115 C T 1: 34,478,364 (GRCm39) S19N possibly damaging Het
Ccser2 T C 14: 36,662,038 (GRCm39) N382S probably benign Het
Cct6b A T 11: 82,610,785 (GRCm39) V500E probably damaging Het
Cenpo A T 12: 4,266,539 (GRCm39) Y190N probably damaging Het
Cfh T A 1: 140,030,100 (GRCm39) K924N probably damaging Het
Col4a1 A G 8: 11,252,926 (GRCm39) probably benign Het
Coro1b T C 19: 4,200,770 (GRCm39) V234A probably benign Het
Crot T C 5: 9,039,641 (GRCm39) K69E probably damaging Het
Cyp2d11 A T 15: 82,274,339 (GRCm39) H347Q probably benign Het
Efcab3 A T 11: 104,612,284 (GRCm39) K636* probably null Het
Fbn2 T A 18: 58,257,393 (GRCm39) I325F probably benign Het
Fbxw4 T A 19: 45,571,187 (GRCm39) R41S probably benign Het
Fn1 T A 1: 71,653,066 (GRCm39) I1308F probably benign Het
Frem1 C A 4: 82,930,251 (GRCm39) E232* probably null Het
Gabrg3 T C 7: 56,423,059 (GRCm39) Q213R possibly damaging Het
Garin3 G A 11: 46,298,418 (GRCm39) G574D possibly damaging Het
Gsdme A T 6: 50,204,378 (GRCm39) V193E probably damaging Het
Hadha C A 5: 30,352,977 (GRCm39) probably null Het
Hdgfl2 C A 17: 56,406,211 (GRCm39) A533E probably damaging Het
Hivep2 T C 10: 14,006,327 (GRCm39) F975S probably damaging Het
Htatip2 T A 7: 49,420,666 (GRCm39) S171T probably benign Het
Ift57 A T 16: 49,584,167 (GRCm39) I307F possibly damaging Het
Il22 A T 10: 118,041,715 (GRCm39) R110W probably benign Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif2b G A 11: 91,466,741 (GRCm39) T514M probably damaging Het
Kmt2c A C 5: 25,515,515 (GRCm39) I2776S probably damaging Het
Ly9 T C 1: 171,428,723 (GRCm39) D189G probably benign Het
Mal2 T C 15: 54,451,753 (GRCm39) V58A probably damaging Het
Mettl21e T A 1: 44,245,526 (GRCm39) N240I probably benign Het
Msantd5f1 A G 4: 73,605,621 (GRCm39) N344S probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nacc1 G A 8: 85,399,844 (GRCm39) R458C probably damaging Het
Ncapd3 T C 9: 26,942,105 (GRCm39) C14R probably damaging Het
Obscn G T 11: 58,886,279 (GRCm39) probably benign Het
Or13c3 A G 4: 52,855,695 (GRCm39) F273L probably benign Het
Or1j4 A T 2: 36,740,234 (GRCm39) M59L possibly damaging Het
Or8d23 T A 9: 38,841,772 (GRCm39) F102I possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Pde4dip C A 3: 97,674,340 (GRCm39) R192L possibly damaging Het
Pdlim4 C A 11: 53,946,674 (GRCm39) E204D probably damaging Het
Phf3 T C 1: 30,853,063 (GRCm39) Q1049R probably damaging Het
Prr14l A G 5: 32,985,103 (GRCm39) L1464P probably damaging Het
Psg25 C T 7: 18,255,323 (GRCm39) V398I probably benign Het
Ptprq T A 10: 107,522,086 (GRCm39) N622Y probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Tex36 A G 7: 133,189,002 (GRCm39) L190P probably benign Het
Tk1 A G 11: 117,707,320 (GRCm39) C156R probably damaging Het
Tmem144 T A 3: 79,739,406 (GRCm39) M126L probably benign Het
Tmem208 G A 8: 106,054,862 (GRCm39) probably null Het
Trappc13 T C 13: 104,286,660 (GRCm39) Q199R probably damaging Het
Trim30b T A 7: 104,012,960 (GRCm39) K156N probably damaging Het
Trps1 A G 15: 50,695,001 (GRCm39) probably null Het
Washc4 T A 10: 83,394,757 (GRCm39) F329Y possibly damaging Het
Zbed5 T G 5: 129,932,026 (GRCm39) D658E probably benign Het
Zfyve28 T G 5: 34,445,449 (GRCm39) K11N probably benign Het
Zp1 C T 19: 10,893,877 (GRCm39) V443I possibly 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
R1163:4930579F01Rik UTSW 3 137,882,271 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- ATGCAGCCAGAATACAGGGC -3'
(R):5'- GCGGAGTCATCAACAGAAAC -3'

Sequencing Primer
(F):5'- CACTGAAGAGTGGCTGGG -3'
(R):5'- CCTAGTGTTTTAATCACAGACACCG -3'
Posted On 2018-10-18