Incidental Mutation 'R6719:4933411K16Rik'
ID 529516
Institutional Source Beutler Lab
Gene Symbol 4933411K16Rik
Ensembl Gene ENSMUSG00000090369
Gene Name RIKEN cDNA 4933411K16 gene
Synonyms
MMRRC Submission 044837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 42040687-42042066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42041151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 94 (I94T)
Ref Sequence ENSEMBL: ENSMUSP00000131279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081714] [ENSMUST00000164518] [ENSMUST00000172244]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081714
SMART Domains Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
DHDPS 28 319 8.34e-81 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164518
AA Change: I94T

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131279
Gene: ENSMUSG00000090369
AA Change: I94T

DomainStartEndE-ValueType
low complexity region 195 206 N/A INTRINSIC
low complexity region 225 248 N/A INTRINSIC
low complexity region 264 292 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168414
Predicted Effect probably benign
Transcript: ENSMUST00000172244
SMART Domains Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
Pfam:DHDPS 57 156 5.8e-11 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afp T A 5: 90,651,562 (GRCm39) N392K probably benign Het
Asrgl1 C T 19: 9,090,512 (GRCm39) G278D probably damaging Het
Atp2c1 T C 9: 105,301,377 (GRCm39) I611V probably damaging Het
Avl9 A G 6: 56,730,370 (GRCm39) Y571C probably damaging Het
Clrn1 A T 3: 58,753,861 (GRCm39) C167S probably damaging Het
Ctsr C T 13: 61,308,265 (GRCm39) G293D possibly damaging Het
Dmbt1 T A 7: 130,721,332 (GRCm39) S1867T possibly damaging Het
Dock9 A T 14: 121,847,439 (GRCm39) I1025N probably damaging Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Duox2 T A 2: 122,114,867 (GRCm39) probably null Het
Fat3 A G 9: 15,907,440 (GRCm39) L2854P probably benign Het
Fcer1a A G 1: 173,050,340 (GRCm39) S61P possibly damaging Het
Fyb2 A T 4: 104,867,656 (GRCm39) D669V probably benign Het
Herc2 G T 7: 55,862,574 (GRCm39) C4081F probably damaging Het
Hexim1 T C 11: 103,008,091 (GRCm39) L115P probably benign Het
Kat2a T G 11: 100,602,967 (GRCm39) Q88H probably benign Het
Lrriq1 T C 10: 102,906,977 (GRCm39) Y1581C probably damaging Het
Ltbp4 T G 7: 27,028,188 (GRCm39) D323A probably damaging Het
Mark3 T A 12: 111,581,876 (GRCm39) I115K probably damaging Het
Nudt9 A G 5: 104,209,562 (GRCm39) D271G probably damaging Het
Or2a54 T A 6: 43,092,907 (GRCm39) V77D probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha5 T C 18: 37,093,925 (GRCm39) S145P probably damaging Het
Pzp T C 6: 128,501,046 (GRCm39) E104G probably benign Het
Rho T C 6: 115,910,854 (GRCm39) I133T possibly damaging Het
Sall3 G T 18: 81,014,721 (GRCm39) T997K probably damaging Het
Scn8a A T 15: 100,908,896 (GRCm39) probably null Het
Sfxn1 T A 13: 54,260,583 (GRCm39) H310Q probably benign Het
Slc25a18 A G 6: 120,765,215 (GRCm39) D92G probably damaging Het
Slc26a9 T C 1: 131,689,523 (GRCm39) I490T probably benign Het
Terf1 T C 1: 15,908,460 (GRCm39) V351A probably benign Het
Thsd7b A G 1: 130,087,451 (GRCm39) probably null Het
Trgj2 A G 13: 19,495,426 (GRCm39) probably benign Het
Tti1 A T 2: 157,824,220 (GRCm39) C1078S probably benign Het
Ttll3 A G 6: 113,375,993 (GRCm39) probably benign Het
Tubb1 A C 2: 174,299,187 (GRCm39) T290P probably damaging Het
Ugt2b35 G T 5: 87,155,247 (GRCm39) D361Y probably damaging Het
Zc2hc1c T C 12: 85,337,446 (GRCm39) S368P probably damaging Het
Other mutations in 4933411K16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:4933411K16Rik APN 19 42,040,983 (GRCm39) missense probably damaging 0.99
IGL02295:4933411K16Rik APN 19 42,041,394 (GRCm39) missense possibly damaging 0.94
R0615:4933411K16Rik UTSW 19 42,040,962 (GRCm39) missense possibly damaging 0.92
R1496:4933411K16Rik UTSW 19 42,041,489 (GRCm39) missense probably damaging 0.99
R3829:4933411K16Rik UTSW 19 42,041,322 (GRCm39) missense probably damaging 1.00
R4983:4933411K16Rik UTSW 19 42,041,515 (GRCm39) missense possibly damaging 0.87
R5717:4933411K16Rik UTSW 19 42,041,484 (GRCm39) missense probably benign 0.17
R7120:4933411K16Rik UTSW 19 42,041,112 (GRCm39) missense probably benign
R7121:4933411K16Rik UTSW 19 42,041,112 (GRCm39) missense probably benign
R9585:4933411K16Rik UTSW 19 42,041,352 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GGAATCCCACCGAGCAAATG -3'
(R):5'- TGGATTCTGCATGGCCTTTACG -3'

Sequencing Primer
(F):5'- GCTGGATCAAATCTCACTTCAG -3'
(R):5'- CATGGCCTTTACGACGGTGAG -3'
Posted On 2018-08-01