Incidental Mutation 'E0370:4930544D05Rik'
ID 206415
Institutional Source Beutler Lab
Gene Symbol 4930544D05Rik
Ensembl Gene ENSMUSG00000087279
Gene Name RIKEN cDNA 4930544D05 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # E0370 (G1)
Quality Score 209
Status Validated
Chromosome 11
Chromosomal Location 70506674-70507716 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TGCAGCGACTGGACGGCGGCA to TGCA at 70507252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102558] [ENSMUST00000180052] [ENSMUST00000135865] [ENSMUST00000144960] [ENSMUST00000102559]
AlphaFold J3QK56
Predicted Effect probably benign
Transcript: ENSMUST00000014753
SMART Domains Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 2.9e-65 PFAM
Pfam:Neur_chan_memb 247 475 6.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072237
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 837 874 N/A INTRINSIC
CNH 1026 1324 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072873
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 829 853 N/A INTRINSIC
CNH 1019 1317 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079244
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 314 338 N/A INTRINSIC
coiled coil region 348 493 N/A INTRINSIC
low complexity region 554 566 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 716 735 N/A INTRINSIC
low complexity region 826 850 N/A INTRINSIC
CNH 1016 1314 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102556
SMART Domains Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 5.4e-65 PFAM
Pfam:Neur_chan_memb 247 474 2.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102558
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 792 816 N/A INTRINSIC
CNH 982 1280 1.58e-113 SMART
Predicted Effect probably null
Transcript: ENSMUST00000180052
SMART Domains Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000135865
SMART Domains Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 101 107 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000144960
SMART Domains Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125387
Predicted Effect probably benign
Transcript: ENSMUST00000102559
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 800 824 N/A INTRINSIC
CNH 990 1288 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136663
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 140 2.3e-22 PFAM
Pfam:Pkinase 1 143 1.6e-30 PFAM
low complexity region 161 192 N/A INTRINSIC
coiled coil region 204 349 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
low complexity region 500 513 N/A INTRINSIC
low complexity region 573 592 N/A INTRINSIC
low complexity region 691 728 N/A INTRINSIC
CNH 880 1178 1.58e-113 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.1%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aire T A 10: 77,877,897 (GRCm39) N180I probably damaging Het
Asic3 G T 5: 24,618,985 (GRCm39) L92F probably damaging Het
Birc6 G A 17: 74,984,352 (GRCm39) D4455N probably damaging Het
Cd36 A T 5: 17,990,747 (GRCm39) C464* probably null Het
Cdx1 A C 18: 61,153,501 (GRCm39) I179S probably damaging Het
Dnah2 A T 11: 69,406,441 (GRCm39) probably null Het
Dst A T 1: 34,288,552 (GRCm39) probably benign Het
Epb41l3 A G 17: 69,581,799 (GRCm39) N580S possibly damaging Het
Hnrnpm A T 17: 33,877,896 (GRCm39) probably benign Het
Katnip A G 7: 125,449,474 (GRCm39) D846G probably benign Het
Map2 A T 1: 66,455,883 (GRCm39) probably benign Het
Mapk11 T C 15: 89,030,716 (GRCm39) D88G probably damaging Het
Mbd4 C T 6: 115,826,116 (GRCm39) E271K possibly damaging Het
Mpp4 T G 1: 59,178,917 (GRCm39) probably benign Het
Mtarc1 T C 1: 184,527,425 (GRCm39) probably benign Het
Muc2 T C 7: 141,282,598 (GRCm39) Y609H probably damaging Het
Or8b3b A T 9: 38,583,857 (GRCm39) D307E probably damaging Het
Pex1 T A 5: 3,681,614 (GRCm39) probably null Het
Prdm11 T C 2: 92,810,924 (GRCm39) Y225C probably damaging Het
Psmc3 T A 2: 90,885,463 (GRCm39) probably null Het
Slc26a8 A T 17: 28,861,361 (GRCm39) D774E possibly damaging Het
Slc9a2 A T 1: 40,802,701 (GRCm39) probably null Het
Smc1b A G 15: 85,011,782 (GRCm39) Y168H probably damaging Het
Steap1 T C 5: 5,790,673 (GRCm39) R92G probably damaging Het
Tbx22 T C X: 106,728,759 (GRCm39) I430T probably benign Het
Tfap4 T A 16: 4,377,334 (GRCm39) H16L possibly damaging Het
Tnxb A G 17: 34,897,917 (GRCm39) D855G probably damaging Het
Trip13 A G 13: 74,068,558 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r121 A G X: 123,037,617 (GRCm39) V801A probably benign Het
Wiz C T 17: 32,574,092 (GRCm39) R935Q probably damaging Het
Other mutations in 4930544D05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:4930544D05Rik APN 11 70,507,005 (GRCm39) missense possibly damaging 0.90
R0271:4930544D05Rik UTSW 11 70,507,474 (GRCm39) missense possibly damaging 0.62
R1887:4930544D05Rik UTSW 11 70,507,249 (GRCm39) missense probably damaging 0.98
R5066:4930544D05Rik UTSW 11 70,507,417 (GRCm39) missense probably benign 0.17
R6119:4930544D05Rik UTSW 11 70,507,317 (GRCm39) missense probably damaging 0.99
R6959:4930544D05Rik UTSW 11 70,507,485 (GRCm39) missense probably damaging 1.00
R8131:4930544D05Rik UTSW 11 70,506,834 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GTGCTAAGAGAAGCTGCAGC -3'
(R):5'- CCCAGTTGGCATAGGGTTTG -3'

Sequencing Primer
(F):5'- AGCCAGCATCATGAGCTTTG -3'
(R):5'- TGAGGTAGACCCGTGCAAACC -3'
Posted On 2014-06-23