Incidental Mutation 'R6184:2410004P03Rik'
ID 488152
Institutional Source Beutler Lab
Gene Symbol 2410004P03Rik
Ensembl Gene ENSMUSG00000071398
Gene Name RIKEN cDNA 2410004P03 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6184 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 17054958-17061759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17057179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 106 (F106S)
Ref Sequence ENSEMBL: ENSMUSP00000140028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095823] [ENSMUST00000189479] [ENSMUST00000190691]
AlphaFold A0A087WQY2
Predicted Effect probably benign
Transcript: ENSMUST00000095823
AA Change: F106S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000189479
AA Change: F106S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140028
Gene: ENSMUSG00000071398
AA Change: F106S

DomainStartEndE-ValueType
Pfam:LLC1 52 99 6.6e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000190691
AA Change: S93P
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,581,957 (GRCm39) F4696I probably benign Het
Ank2 T C 3: 126,756,047 (GRCm39) I1073V probably damaging Het
Card11 A T 5: 140,884,033 (GRCm39) D415E probably damaging Het
Clec16a G A 16: 10,390,792 (GRCm39) probably null Het
Coro2a T C 4: 46,540,504 (GRCm39) T472A probably benign Het
D130043K22Rik T A 13: 25,069,574 (GRCm39) F878I probably damaging Het
D5Ertd579e G T 5: 36,787,127 (GRCm39) D80E probably damaging Het
Ddrgk1 A T 2: 130,506,481 (GRCm39) V2E possibly damaging Het
Disp1 T C 1: 182,867,896 (GRCm39) H1508R probably benign Het
Dmtf1 T C 5: 9,176,656 (GRCm39) N344S probably benign Het
Eml5 A G 12: 98,829,388 (GRCm39) V503A possibly damaging Het
Fat1 A G 8: 45,406,429 (GRCm39) H1060R probably benign Het
Fbxw8 C T 5: 118,251,814 (GRCm39) R233Q probably damaging Het
Fer1l4 T C 2: 155,890,211 (GRCm39) K238R probably damaging Het
Flg T A 3: 93,187,357 (GRCm39) S270T probably benign Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Gm3604 A T 13: 62,519,659 (GRCm39) V32D probably damaging Het
Gnl2 T G 4: 124,948,022 (GRCm39) probably null Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Il2ra T A 2: 11,652,790 (GRCm39) probably benign Het
Kics2 T C 10: 121,586,810 (GRCm39) L375P probably damaging Het
Kmt5b T A 19: 3,854,499 (GRCm39) M254K probably damaging Het
Lrriq3 T C 3: 154,835,039 (GRCm39) I258T probably benign Het
Mbnl1 T C 3: 60,523,165 (GRCm39) L328S probably damaging Het
Mboat2 A G 12: 25,001,430 (GRCm39) D277G possibly damaging Het
Mug2 A G 6: 122,014,005 (GRCm39) I364V probably benign Het
Myh7 G A 14: 55,226,315 (GRCm39) R442C probably damaging Het
Nin A G 12: 70,090,511 (GRCm39) L968P probably damaging Het
Or1l8 T C 2: 36,817,404 (GRCm39) T241A probably damaging Het
Or5w14 A T 2: 87,542,188 (GRCm39) Y21N probably benign Het
Or8g53 T G 9: 39,683,916 (GRCm39) Y60S probably damaging Het
Per1 C T 11: 68,993,730 (GRCm39) P403S probably damaging Het
Ppip5k2 T C 1: 97,661,730 (GRCm39) I723V possibly damaging Het
Ptprg A G 14: 12,153,943 (GRCm38) T555A probably benign Het
Rgsl1 C T 1: 153,703,194 (GRCm39) M187I probably benign Het
Sec31a A G 5: 100,517,453 (GRCm39) probably null Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Stx1b G A 7: 127,407,077 (GRCm39) T206I possibly damaging Het
Tsc22d4 T A 5: 137,757,351 (GRCm39) M35K probably damaging Het
Zc2hc1c A G 12: 85,343,218 (GRCm39) K452E probably damaging Het
Zfp386 A G 12: 116,024,133 (GRCm39) N582S possibly damaging Het
Zfp457 A G 13: 67,440,976 (GRCm39) V437A possibly damaging Het
Zfp599 T C 9: 22,160,947 (GRCm39) Y406C probably benign Het
Zfyve26 G A 12: 79,315,501 (GRCm39) S1325F probably damaging Het
Other mutations in 2410004P03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:2410004P03Rik APN 12 17,061,172 (GRCm39) missense probably damaging 1.00
R0079:2410004P03Rik UTSW 12 17,057,183 (GRCm39) missense possibly damaging 0.93
R4685:2410004P03Rik UTSW 12 17,057,185 (GRCm39) missense probably damaging 1.00
R6140:2410004P03Rik UTSW 12 17,055,923 (GRCm39) unclassified probably benign
R6914:2410004P03Rik UTSW 12 17,061,298 (GRCm39) nonsense probably null
R7747:2410004P03Rik UTSW 12 17,057,149 (GRCm39) missense probably damaging 1.00
X0021:2410004P03Rik UTSW 12 17,061,345 (GRCm39) start codon destroyed probably null 0.92
Predicted Primers PCR Primer
(F):5'- CATGCAGGATTCCCATGTGG -3'
(R):5'- ATGGATGTTGTCGCAATCCC -3'

Sequencing Primer
(F):5'- AGCACGTGTGAAGGCTC -3'
(R):5'- GGATGTTGTCGCAATCCCTTCTC -3'
Posted On 2017-10-10