Incidental Mutation 'R6894:4921509C19Rik'
ID 538196
Institutional Source Beutler Lab
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene Name RIKEN cDNA 4921509C19 gene
Synonyms LOC381389
MMRRC Submission 044988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6894 (G1)
Quality Score 100.008
Status Not validated
Chromosome 2
Chromosomal Location 151312462-151318073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 151315227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 150 (L150F)
Ref Sequence ENSEMBL: ENSMUSP00000079030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080132]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080132
AA Change: L150F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: L150F

DomainStartEndE-ValueType
S_TKc 24 271 2.18e-97 SMART
low complexity region 430 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik G A 5: 146,441,542 (GRCm39) E230K possibly damaging Het
4930449I24Rik A T 5: 146,441,543 (GRCm39) E230V probably benign Het
9430038I01Rik A G 7: 136,989,117 (GRCm39) C93R possibly damaging Het
Aoc1l2 G A 6: 48,907,596 (GRCm39) A199T probably damaging Het
Apobec1 T C 6: 122,568,201 (GRCm39) probably benign Het
Arl4c T A 1: 88,629,097 (GRCm39) D97V probably damaging Het
Ash1l A G 3: 88,890,298 (GRCm39) T726A probably benign Het
Asz1 A C 6: 18,055,520 (GRCm39) F359V probably damaging Het
Atr T A 9: 95,809,250 (GRCm39) L1970H probably damaging Het
Baz2a G T 10: 127,959,450 (GRCm39) A1322S possibly damaging Het
Cd209e T A 8: 3,903,569 (GRCm39) I37F possibly damaging Het
Cd209f T C 8: 4,155,477 (GRCm39) K37R probably benign Het
Cd5 G C 19: 10,716,203 (GRCm39) S3C possibly damaging Het
Clec16a A T 16: 10,462,718 (GRCm39) I260F probably damaging Het
Cltc A T 11: 86,603,428 (GRCm39) Y799* probably null Het
Cplane1 T C 15: 8,216,852 (GRCm39) L690P probably damaging Het
Csde1 G A 3: 102,951,972 (GRCm39) V258I possibly damaging Het
Dennd5a G T 7: 109,500,325 (GRCm39) H909Q probably damaging Het
Dnah12 A G 14: 26,456,904 (GRCm39) D890G probably damaging Het
Dnah2 A T 11: 69,375,086 (GRCm39) M1379K probably benign Het
Dpp10 A T 1: 123,264,593 (GRCm39) I743N probably damaging Het
Dpp9 T A 17: 56,495,321 (GRCm39) T815S probably damaging Het
Ears2 T C 7: 121,647,447 (GRCm39) N279S probably damaging Het
Ect2l A G 10: 18,045,128 (GRCm39) probably null Het
Eomes C G 9: 118,310,353 (GRCm39) P288A probably damaging Het
Fat3 T C 9: 15,909,072 (GRCm39) D2310G probably damaging Het
Fignl2 T C 15: 100,951,854 (GRCm39) T143A probably benign Het
Gdf9 A G 11: 53,327,646 (GRCm39) K201E possibly damaging Het
Gfra3 C T 18: 34,828,710 (GRCm39) R228Q probably damaging Het
Grin1 A T 2: 25,185,829 (GRCm39) V876E probably damaging Het
Igkv12-41 A C 6: 69,835,635 (GRCm39) V39G probably damaging Het
Kat7 A T 11: 95,174,910 (GRCm39) M367K possibly damaging Het
Ly6d T C 15: 74,634,654 (GRCm39) K33E possibly damaging Het
Lztfl1 T C 9: 123,529,998 (GRCm39) N273S possibly damaging Het
Macf1 T A 4: 123,377,480 (GRCm39) I1485F possibly damaging Het
Marchf10 G T 11: 105,287,787 (GRCm39) L172I possibly damaging Het
Mdn1 T G 4: 32,748,614 (GRCm39) S4220A possibly damaging Het
Muc16 A G 9: 18,406,872 (GRCm39) V8460A possibly damaging Het
Myh14 A G 7: 44,282,936 (GRCm39) F769L probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk4 A G 13: 32,905,998 (GRCm39) L395P probably damaging Het
Nat8f6 A T 6: 85,785,504 (GRCm39) L215* probably null Het
Nell2 T C 15: 95,244,768 (GRCm39) D443G probably damaging Het
Nkx6-3 A G 8: 23,647,632 (GRCm39) K197R probably benign Het
Nt5c3 A T 6: 56,859,958 (GRCm39) L293* probably null Het
Ntrk1 A T 3: 87,690,109 (GRCm39) V429D probably damaging Het
Obscn A G 11: 59,023,508 (GRCm39) V623A probably benign Het
Or2o1 T C 11: 49,051,186 (GRCm39) F115S probably benign Het
Or4c1 A G 2: 89,133,837 (GRCm39) L33S probably damaging Het
Or5ac21 A G 16: 59,124,142 (GRCm39) T209A probably damaging Het
Or5p5 C T 7: 107,414,271 (GRCm39) T160I probably benign Het
Or6c74 T C 10: 129,870,178 (GRCm39) S228P probably damaging Het
Or8k22 A T 2: 86,163,295 (GRCm39) I135N probably damaging Het
Pate3 T A 9: 35,557,969 (GRCm39) D33V probably damaging Het
Pcnx1 T A 12: 82,034,747 (GRCm39) I1843N probably damaging Het
Pla2g4f A T 2: 120,134,077 (GRCm39) I503N probably benign Het
Prkg1 C A 19: 30,602,174 (GRCm39) E361* probably null Het
Proca1 A G 11: 78,085,613 (GRCm39) probably benign Het
Prss38 G T 11: 59,263,850 (GRCm39) H287Q probably benign Het
Ptpdc1 T C 13: 48,744,114 (GRCm39) E169G probably benign Het
Ptpn21 T C 12: 98,681,440 (GRCm39) S65G probably damaging Het
Rfx6 A T 10: 51,592,135 (GRCm39) H177L probably damaging Het
Slc20a2 G A 8: 23,050,609 (GRCm39) G276D possibly damaging Het
Spag6l A T 16: 16,601,802 (GRCm39) L159I probably damaging Het
Spata31f1a G A 4: 42,850,291 (GRCm39) P622S probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Stk33 T A 7: 108,935,269 (GRCm39) E174D possibly damaging Het
Stxbp5 A T 10: 9,660,105 (GRCm39) V730E probably benign Het
Tmprss15 A T 16: 78,872,702 (GRCm39) L168* probably null Het
Tnrc18 A T 5: 142,745,804 (GRCm39) M1323K unknown Het
Tpr T C 1: 150,312,598 (GRCm39) V1932A probably benign Het
Trak2 A G 1: 58,950,892 (GRCm39) S432P probably damaging Het
Ttn A T 2: 76,738,534 (GRCm39) F4002I probably benign Het
Txndc11 G A 16: 10,906,009 (GRCm39) T507I probably damaging Het
Usp12 G A 5: 146,691,349 (GRCm39) T135I possibly damaging Het
Vit T A 17: 78,934,187 (GRCm39) Y596* probably null Het
Vmn1r32 A T 6: 66,530,345 (GRCm39) Y144N possibly damaging Het
Vmn2r80 G T 10: 79,005,438 (GRCm39) L358F probably benign Het
Zfp382 T G 7: 29,825,261 (GRCm39) S38A probably benign Het
Other mutations in 4921509C19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:4921509C19Rik APN 2 151,315,453 (GRCm39) missense possibly damaging 0.46
IGL02117:4921509C19Rik APN 2 151,315,466 (GRCm39) missense probably benign 0.10
IGL02432:4921509C19Rik APN 2 151,314,481 (GRCm39) missense probably benign 0.18
IGL03025:4921509C19Rik APN 2 151,315,405 (GRCm39) missense possibly damaging 0.82
R0321:4921509C19Rik UTSW 2 151,314,620 (GRCm39) missense probably benign 0.01
R0961:4921509C19Rik UTSW 2 151,314,686 (GRCm39) missense probably benign 0.01
R1272:4921509C19Rik UTSW 2 151,313,977 (GRCm39) missense probably damaging 0.98
R1455:4921509C19Rik UTSW 2 151,314,824 (GRCm39) missense possibly damaging 0.46
R3177:4921509C19Rik UTSW 2 151,314,020 (GRCm39) missense possibly damaging 0.65
R3277:4921509C19Rik UTSW 2 151,314,020 (GRCm39) missense possibly damaging 0.65
R4206:4921509C19Rik UTSW 2 151,315,435 (GRCm39) missense probably benign 0.44
R4655:4921509C19Rik UTSW 2 151,314,778 (GRCm39) missense probably benign 0.03
R4680:4921509C19Rik UTSW 2 151,315,390 (GRCm39) missense probably damaging 1.00
R4684:4921509C19Rik UTSW 2 151,313,791 (GRCm39) missense unknown
R4702:4921509C19Rik UTSW 2 151,314,509 (GRCm39) missense probably benign 0.00
R4867:4921509C19Rik UTSW 2 151,314,742 (GRCm39) nonsense probably null
R4962:4921509C19Rik UTSW 2 151,314,728 (GRCm39) missense possibly damaging 0.78
R5117:4921509C19Rik UTSW 2 151,314,460 (GRCm39) missense probably benign 0.00
R5484:4921509C19Rik UTSW 2 151,313,851 (GRCm39) missense probably benign
R5602:4921509C19Rik UTSW 2 151,315,459 (GRCm39) missense possibly damaging 0.83
R6374:4921509C19Rik UTSW 2 151,314,800 (GRCm39) missense possibly damaging 0.47
R7079:4921509C19Rik UTSW 2 151,315,198 (GRCm39) missense probably damaging 1.00
R7109:4921509C19Rik UTSW 2 151,315,673 (GRCm39) missense probably damaging 1.00
R7155:4921509C19Rik UTSW 2 151,315,489 (GRCm39) missense possibly damaging 0.69
R7441:4921509C19Rik UTSW 2 151,314,845 (GRCm39) missense possibly damaging 0.51
R7845:4921509C19Rik UTSW 2 151,314,229 (GRCm39) missense probably damaging 0.96
R7853:4921509C19Rik UTSW 2 151,315,600 (GRCm39) missense probably damaging 1.00
R8773:4921509C19Rik UTSW 2 151,314,062 (GRCm39) missense possibly damaging 0.91
R8805:4921509C19Rik UTSW 2 151,313,285 (GRCm39) splice site probably benign
R8983:4921509C19Rik UTSW 2 151,313,272 (GRCm39) missense unknown
R9257:4921509C19Rik UTSW 2 151,315,627 (GRCm39) missense probably benign 0.05
R9566:4921509C19Rik UTSW 2 151,314,226 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCTAGGGTACTTTCCTGCAATG -3'
(R):5'- TCATCGTTCTGGAGCATGCTG -3'

Sequencing Primer
(F):5'- TATCCATTGAAAGGAAGGCACCCTG -3'
(R):5'- CATGCTGTGGGAGGAGAGCTG -3'
Posted On 2018-11-06