Incidental Mutation 'R6277:4921539E11Rik'
ID 507698
Institutional Source Beutler Lab
Gene Symbol 4921539E11Rik
Ensembl Gene ENSMUSG00000028520
Gene Name RIKEN cDNA 4921539E11 gene
Synonyms
MMRRC Submission 044447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6277 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 103087642-103148060 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 103088668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 179 (Y179*)
Ref Sequence ENSEMBL: ENSMUSP00000131846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000030245
AA Change: Y280*
SMART Domains Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: Y280*

DomainStartEndE-ValueType
Pfam:DUF4545 1 443 6.1e-206 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097944
SMART Domains Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520

DomainStartEndE-ValueType
Pfam:DUF4545 1 270 7.3e-116 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168664
AA Change: Y179*
SMART Domains Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520
AA Change: Y179*

DomainStartEndE-ValueType
Pfam:DUF4545 1 342 4.4e-183 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,651 (GRCm39) Y105H possibly damaging Het
Abca7 G C 10: 79,841,992 (GRCm39) V1042L probably benign Het
Adck5 C A 15: 76,477,463 (GRCm39) T99K possibly damaging Het
Adcy5 A G 16: 35,109,896 (GRCm39) T823A probably benign Het
Adra1d G T 2: 131,403,083 (GRCm39) R336S probably damaging Het
Arhgap39 A T 15: 76,619,337 (GRCm39) M749K probably damaging Het
Arid4a A G 12: 71,086,665 (GRCm39) R168G possibly damaging Het
Atxn10 A G 15: 85,275,893 (GRCm39) T317A probably benign Het
Bicc1 T C 10: 70,863,731 (GRCm39) K22E possibly damaging Het
Cacna1b T G 2: 24,620,808 (GRCm39) T281P probably damaging Het
Ccdc174 A T 6: 91,857,272 (GRCm39) Q26L probably damaging Het
Celf3 T C 3: 94,392,672 (GRCm39) C124R probably damaging Het
Cfap44 A G 16: 44,257,669 (GRCm39) E1068G probably benign Het
Crybg1 T A 10: 43,873,255 (GRCm39) E1284D probably benign Het
Dcbld2 T A 16: 58,272,119 (GRCm39) Y392N probably damaging Het
Dcbld2 C T 16: 58,285,866 (GRCm39) P675L probably damaging Het
Dnah12 A T 14: 26,492,439 (GRCm39) H1193L probably damaging Het
Efcab3 G C 11: 104,901,148 (GRCm39) E4422D possibly damaging Het
Ern2 A G 7: 121,785,330 (GRCm39) F16L probably benign Het
Fam163b G T 2: 27,002,763 (GRCm39) T78N probably benign Het
Fbxw21 A T 9: 108,974,623 (GRCm39) I299K possibly damaging Het
Foxg1 A G 12: 49,432,299 (GRCm39) N344S probably benign Het
Git2 A G 5: 114,871,308 (GRCm39) I202T probably damaging Het
Gm11595 G T 11: 99,663,510 (GRCm39) P57T unknown Het
Gm12258 G A 11: 58,745,113 (GRCm39) V15M probably damaging Het
Gm15056 C T 8: 21,390,914 (GRCm39) G40S probably damaging Het
Gnal C A 18: 67,346,143 (GRCm39) H274Q probably damaging Het
Hormad2 A T 11: 4,371,583 (GRCm39) probably null Het
Ighv7-2 A G 12: 113,876,087 (GRCm39) I6T probably benign Het
Irf9 A G 14: 55,845,109 (GRCm39) D323G probably benign Het
Klhl23 G T 2: 69,664,096 (GRCm39) D482Y probably damaging Het
Lama4 A G 10: 38,982,006 (GRCm39) N1745S probably damaging Het
Lct T A 1: 128,231,974 (GRCm39) Y625F probably benign Het
Lrrc26 T C 2: 25,180,116 (GRCm39) V39A probably benign Het
Mllt6 G A 11: 97,564,774 (GRCm39) A527T probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Nlrp5 A G 7: 23,120,880 (GRCm39) D698G probably damaging Het
Or13p10 T A 4: 118,523,520 (GRCm39) S269T probably benign Het
Pacsin1 T A 17: 27,924,969 (GRCm39) probably null Het
Padi3 A T 4: 140,518,472 (GRCm39) probably null Het
Pcdha8 T C 18: 37,127,411 (GRCm39) I631T probably damaging Het
Pkn3 G A 2: 29,972,957 (GRCm39) G315D possibly damaging Het
Ppfibp1 T A 6: 146,907,422 (GRCm39) D228E probably benign Het
Prag1 G T 8: 36,613,745 (GRCm39) R1099L probably damaging Het
Pramel31 A G 4: 144,090,223 (GRCm39) E421G probably damaging Het
Prr36 A G 8: 4,264,746 (GRCm39) probably benign Het
Prrc2c A G 1: 162,541,883 (GRCm39) S369P probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Slc9c1 G A 16: 45,427,204 (GRCm39) probably benign Het
Slit1 G A 19: 41,588,948 (GRCm39) T1513I possibly damaging Het
Smcr8 C T 11: 60,669,635 (GRCm39) T261M probably benign Het
Spata17 G A 1: 186,926,151 (GRCm39) R60* probably null Het
Speer4f1 A G 5: 17,681,241 (GRCm39) R40G probably damaging Het
Spns3 A G 11: 72,420,466 (GRCm39) V340A possibly damaging Het
Srgap3 T C 6: 112,716,344 (GRCm39) I595V probably benign Het
Srms G A 2: 180,848,038 (GRCm39) A489V possibly damaging Het
St3gal4 T C 9: 34,964,558 (GRCm39) N169S probably damaging Het
Taar5 T A 10: 23,847,169 (GRCm39) V189E probably damaging Het
Tbc1d32 G A 10: 56,071,525 (GRCm39) P333L probably benign Het
Tet3 G T 6: 83,345,066 (GRCm39) Y1790* probably null Het
Ticrr T A 7: 79,344,444 (GRCm39) H1436Q probably benign Het
Top6bl G T 19: 4,677,250 (GRCm39) S466* probably null Het
Ubl7 C T 9: 57,830,555 (GRCm39) L334F possibly damaging Het
Unc13a A G 8: 72,119,283 (GRCm39) probably null Het
Unc13c T C 9: 73,606,451 (GRCm39) D1303G probably damaging Het
Vmn2r114 A G 17: 23,509,954 (GRCm39) L842P possibly damaging Het
Vps35 G T 8: 85,987,857 (GRCm39) Q765K possibly damaging Het
Zfp87 G T 13: 74,520,643 (GRCm39) S145* probably null Het
Zgrf1 C T 3: 127,392,461 (GRCm39) A1327V possibly damaging Het
Zkscan6 T A 11: 65,718,983 (GRCm39) S334R probably benign 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
R3735:4921539E11Rik UTSW 4 103,123,603 (GRCm39) missense probably damaging 1.00
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
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'- ATTCAGCAGAGAAGACTTGCAAATG -3'
(R):5'- GCTATTGGCTATTGAGAAGGAAGTG -3'

Sequencing Primer
(F):5'- GCAGAGAAGACTTGCAAATGTTTTTG -3'
(R):5'- CTCACAGTCAGCTATTGGATGGATC -3'
Posted On 2018-03-15