Incidental Mutation 'R3735:4921539E11Rik'
ID 270047
Institutional Source Beutler Lab
Gene Symbol 4921539E11Rik
Ensembl Gene ENSMUSG00000028520
Gene Name RIKEN cDNA 4921539E11 gene
Synonyms
MMRRC Submission 040722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3735 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 103087642-103148060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 103123603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 90 (E90Q)
Ref Sequence ENSEMBL: ENSMUSP00000095557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030245
AA Change: E90Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: E90Q

DomainStartEndE-ValueType
Pfam:DUF4545 1 443 6.1e-206 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097944
AA Change: E90Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: E90Q

DomainStartEndE-ValueType
Pfam:DUF4545 1 270 7.3e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168664
SMART Domains Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520

DomainStartEndE-ValueType
Pfam:DUF4545 1 342 4.4e-183 PFAM
Meta Mutation Damage Score 0.1480 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,892,448 (GRCm39) A125V probably benign Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adam17 T C 12: 21,375,413 (GRCm39) D802G probably benign Het
Aoc3 A T 11: 101,223,045 (GRCm39) D427V probably damaging Het
Bivm C T 1: 44,165,594 (GRCm39) H15Y probably benign Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Cdca7 T A 2: 72,314,209 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Champ1 T C 8: 13,928,735 (GRCm39) S298P probably damaging Het
Cimip2c A T 5: 30,639,442 (GRCm39) Y123F probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dcaf10 C T 4: 45,348,117 (GRCm39) T191I probably benign Het
Dido1 A G 2: 180,325,829 (GRCm39) probably benign Het
Dnah7b C T 1: 46,339,035 (GRCm39) T3361I probably benign Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Eml5 G A 12: 98,822,248 (GRCm39) T721I possibly damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Fam169b G T 7: 68,000,049 (GRCm39) R198S probably damaging Het
Gm7694 A G 1: 170,130,330 (GRCm39) S23P probably damaging Het
Grk3 T A 5: 113,101,697 (GRCm39) T248S probably benign Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Ido2 C T 8: 25,025,209 (GRCm39) V273M probably damaging Het
Il12rb1 T C 8: 71,269,862 (GRCm39) L518P probably damaging Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kansl1l A G 1: 66,840,409 (GRCm39) V297A possibly damaging Het
Kcnj10 A G 1: 172,197,533 (GRCm39) Y349C possibly damaging Het
Krt18 A G 15: 101,936,936 (GRCm39) T75A probably benign Het
Lrp4 A T 2: 91,328,716 (GRCm39) I1539F probably damaging Het
Map3k6 T C 4: 132,973,683 (GRCm39) V458A probably benign Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Med13 A C 11: 86,170,484 (GRCm39) M1850R probably benign Het
Mfsd13a A G 19: 46,356,767 (GRCm39) Y256C probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Myo9b T C 8: 71,801,241 (GRCm39) V1133A probably benign Het
Myom2 A T 8: 15,119,676 (GRCm39) H144L probably benign Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nkx1-1 C T 5: 33,591,074 (GRCm39) V83I unknown Het
Npy4r T A 14: 33,869,226 (GRCm39) T21S probably benign Het
Nup88 A G 11: 70,847,018 (GRCm39) S331P probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or4k44 T A 2: 111,368,241 (GRCm39) H131L probably damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Otogl A T 10: 107,735,390 (GRCm39) Y131* probably null Het
Pgr G A 9: 8,901,534 (GRCm39) G356S probably damaging Het
Prdm2 T C 4: 142,860,929 (GRCm39) E787G probably damaging Het
Prpf18 A G 2: 4,648,484 (GRCm39) I114T probably benign Het
R3hdm2 T A 10: 127,300,879 (GRCm39) I280N probably benign Het
Rims4 T C 2: 163,705,905 (GRCm39) D243G possibly damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Rpap2 T C 5: 107,803,017 (GRCm39) probably benign Het
Sdr16c5 G A 4: 4,005,614 (GRCm39) T240I probably benign Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Slc36a4 T A 9: 15,649,569 (GRCm39) Y466* probably null Het
Slco3a1 A G 7: 74,154,245 (GRCm39) I80T probably damaging Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Stam A T 2: 14,133,823 (GRCm39) Q190L probably damaging Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tacstd2 A G 6: 67,511,843 (GRCm39) V283A probably damaging Het
Tln1 G T 4: 43,549,370 (GRCm39) A616E probably damaging Het
Trdmt1 A T 2: 13,524,684 (GRCm39) F257Y possibly damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Trps1 A G 15: 50,709,456 (GRCm39) I298T possibly damaging Het
Tti2 T C 8: 31,645,925 (GRCm39) L413P probably damaging Het
Utrn A G 10: 12,354,228 (GRCm39) V343A probably damaging Het
Vwf G T 6: 125,565,576 (GRCm39) W288L probably damaging Het
Zfp629 T A 7: 127,211,950 (GRCm39) probably benign Het
Zfp873 G A 10: 81,897,015 (GRCm39) S582N probably benign Het
Zfp979 A G 4: 147,697,939 (GRCm39) Y257H possibly damaging Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging Het
Other mutations in 4921539E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:4921539E11Rik APN 4 103,092,983 (GRCm39) missense possibly damaging 0.95
IGL00864:4921539E11Rik APN 4 103,092,895 (GRCm39) missense probably damaging 1.00
IGL01951:4921539E11Rik APN 4 103,092,865 (GRCm39) missense probably damaging 1.00
IGL02477:4921539E11Rik APN 4 103,127,943 (GRCm39) missense probably benign 0.04
IGL02606:4921539E11Rik APN 4 103,099,978 (GRCm39) missense probably benign 0.01
IGL03210:4921539E11Rik APN 4 103,141,635 (GRCm39) missense probably benign 0.01
BB004:4921539E11Rik UTSW 4 103,123,539 (GRCm39) missense probably benign 0.02
BB014:4921539E11Rik UTSW 4 103,123,539 (GRCm39) missense probably benign 0.02
R0441:4921539E11Rik UTSW 4 103,092,689 (GRCm39) intron probably benign
R0455:4921539E11Rik UTSW 4 103,088,180 (GRCm39) missense possibly damaging 0.69
R0504:4921539E11Rik UTSW 4 103,128,057 (GRCm39) splice site probably benign
R0636:4921539E11Rik UTSW 4 103,088,414 (GRCm39) missense probably damaging 1.00
R0766:4921539E11Rik UTSW 4 103,127,994 (GRCm39) missense probably damaging 0.99
R0799:4921539E11Rik UTSW 4 103,100,101 (GRCm39) missense possibly damaging 0.83
R1312:4921539E11Rik UTSW 4 103,127,994 (GRCm39) missense probably damaging 0.99
R1713:4921539E11Rik UTSW 4 103,127,964 (GRCm39) missense possibly damaging 0.92
R1783:4921539E11Rik UTSW 4 103,088,286 (GRCm39) missense probably damaging 0.99
R1978:4921539E11Rik UTSW 4 103,127,961 (GRCm39) missense possibly damaging 0.49
R4821:4921539E11Rik UTSW 4 103,092,871 (GRCm39) missense probably damaging 1.00
R5274:4921539E11Rik UTSW 4 103,092,856 (GRCm39) missense probably benign 0.22
R5275:4921539E11Rik UTSW 4 103,092,856 (GRCm39) missense probably benign 0.22
R5431:4921539E11Rik UTSW 4 103,128,045 (GRCm39) missense probably benign 0.00
R5449:4921539E11Rik UTSW 4 103,123,579 (GRCm39) missense probably benign
R6049:4921539E11Rik UTSW 4 103,088,520 (GRCm39) missense probably benign 0.05
R6277:4921539E11Rik UTSW 4 103,088,668 (GRCm39) nonsense probably null
R6518:4921539E11Rik UTSW 4 103,123,608 (GRCm39) missense probably damaging 1.00
R6602:4921539E11Rik UTSW 4 103,112,769 (GRCm39) missense probably benign 0.36
R6634:4921539E11Rik UTSW 4 103,094,127 (GRCm39) critical splice donor site probably null
R6992:4921539E11Rik UTSW 4 103,099,990 (GRCm39) missense possibly damaging 0.57
R7575:4921539E11Rik UTSW 4 103,088,192 (GRCm39) missense probably damaging 1.00
R7927:4921539E11Rik UTSW 4 103,123,539 (GRCm39) missense probably benign 0.02
R8130:4921539E11Rik UTSW 4 103,092,895 (GRCm39) missense probably damaging 1.00
R8461:4921539E11Rik UTSW 4 103,112,712 (GRCm39) missense probably benign 0.01
R8714:4921539E11Rik UTSW 4 103,100,093 (GRCm39) missense probably benign 0.10
R8798:4921539E11Rik UTSW 4 103,123,574 (GRCm39) start gained probably benign
R9458:4921539E11Rik UTSW 4 103,141,608 (GRCm39) missense possibly damaging 0.81
R9462:4921539E11Rik UTSW 4 103,092,964 (GRCm39) missense probably benign 0.08
R9598:4921539E11Rik UTSW 4 103,088,604 (GRCm39) missense probably benign 0.03
R9643:4921539E11Rik UTSW 4 103,092,666 (GRCm39) missense unknown
R9709:4921539E11Rik UTSW 4 103,092,678 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTGGCAATAGTCACCATACC -3'
(R):5'- AGTCTCAGCCTTCTGCCTG -3'

Sequencing Primer
(F):5'- CCACAAGTTCAAGTTCAGTCTGGG -3'
(R):5'- AGCCTTCTGCCTGCGATCTG -3'
Posted On 2015-03-18