Incidental Mutation 'R7919:4930579F01Rik'
ID 648223
Institutional Source Beutler Lab
Gene Symbol 4930579F01Rik
Ensembl Gene ENSMUSG00000012042
Gene Name RIKEN cDNA 4930579F01 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R7919 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 137869839-137899592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 137885311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 95 (K95T)
Ref Sequence ENSEMBL: ENSMUSP00000012186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]
AlphaFold A0A5F8MPV9
Predicted Effect probably damaging
Transcript: ENSMUST00000012186
AA Change: K95T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: K95T

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: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,461 (GRCm39) T113A unknown Het
Abcc2 T C 19: 43,805,248 (GRCm39) Y701H probably damaging Het
Adcy2 T A 13: 69,036,091 (GRCm39) H190L probably benign Het
Arhgef15 T C 11: 68,838,431 (GRCm39) T623A probably benign Het
Armc3 A G 2: 19,290,906 (GRCm39) T462A probably benign Het
Calhm2 C T 19: 47,121,447 (GRCm39) V241M possibly damaging Het
Cdc25c T C 18: 34,868,429 (GRCm39) I314V probably damaging Het
Cntrl G A 2: 35,017,413 (GRCm39) D407N probably benign Het
Dnah5 A G 15: 28,350,742 (GRCm39) E2588G probably damaging Het
Dnm1 T A 2: 32,229,990 (GRCm39) N178Y probably damaging Het
Eaf2 T A 16: 36,630,914 (GRCm39) E86D probably damaging Het
Elf1 C A 14: 79,798,339 (GRCm39) D75E probably benign Het
Fem1c T C 18: 46,657,370 (GRCm39) T115A probably damaging Het
Garnl3 A G 2: 32,936,611 (GRCm39) V186A probably benign Het
Gatb T A 3: 85,511,828 (GRCm39) S194R probably damaging Het
Gm10775 T A 13: 65,407,913 (GRCm39) N71K unknown Het
Gm19965 T A 1: 116,749,850 (GRCm39) C510* probably null Het
Hydin A G 8: 110,993,971 (GRCm39) T2A unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Jag1 G A 2: 136,930,366 (GRCm39) T726M probably damaging Het
Kank1 A G 19: 25,408,439 (GRCm39) D1306G probably damaging Het
Krt26 T A 11: 99,224,420 (GRCm39) E366V probably damaging Het
Ksr2 A G 5: 117,899,418 (GRCm39) E872G possibly damaging Het
Med6 G A 12: 81,620,621 (GRCm39) R242* probably null Het
Meis2 A G 2: 115,697,788 (GRCm39) V370A probably benign Het
Mta2 C T 19: 8,926,498 (GRCm39) R480* probably null Het
Mup3 A T 4: 62,002,829 (GRCm39) N177K probably damaging Het
Myo15a T A 11: 60,417,356 (GRCm39) V3435E probably damaging Het
Ncapg A G 5: 45,853,390 (GRCm39) T880A probably benign Het
Obox1 A T 7: 15,290,256 (GRCm39) K200* probably null Het
Or8j3 A T 2: 86,028,609 (GRCm39) C162* probably null Het
Ovgp1 T A 3: 105,888,601 (GRCm39) V319D probably damaging Het
Plxdc2 A T 2: 16,553,036 (GRCm39) I145F probably damaging Het
Prr30 T C 14: 101,436,547 (GRCm39) N5S possibly damaging Het
Ptcd3 T C 6: 71,880,438 (GRCm39) Y95C probably damaging Het
Rsl1d1 A G 16: 11,020,297 (GRCm39) S44P probably benign Het
Sh3gl2 A G 4: 85,273,595 (GRCm39) E49G probably benign Het
Shroom1 A G 11: 53,354,220 (GRCm39) T47A probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Stx1b A G 7: 127,406,507 (GRCm39) S281P probably benign Het
Tg A T 15: 66,555,923 (GRCm39) I872F possibly damaging Het
Ubqln3 C T 7: 103,790,399 (GRCm39) A564T probably benign Het
Vsnl1 T C 12: 11,382,087 (GRCm39) E98G possibly damaging Het
Vwf T C 6: 125,624,822 (GRCm39) L1857P Het
Wars1 C T 12: 108,847,030 (GRCm39) E125K probably benign Het
Wnt16 G A 6: 22,291,049 (GRCm39) S159N probably benign Het
Zcchc14 A G 8: 122,330,912 (GRCm39) F817S probably damaging Het
Zup1 A G 10: 33,825,108 (GRCm39) S125P 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
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
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'- AAACATTTGGTGTCTCCTTAGCTG -3'
(R):5'- TTGAGCAGGACGTTCTCAGG -3'

Sequencing Primer
(F):5'- TCTCCTTAGCTGTACTTTAATAGAGC -3'
(R):5'- GCTGGAATTTGAACTCAGGACCTC -3'
Posted On 2020-09-15