Incidental Mutation 'R9063:1110004F10Rik'
ID 689087
Institutional Source Beutler Lab
Gene Symbol 1110004F10Rik
Ensembl Gene ENSMUSG00000030663
Gene Name RIKEN cDNA 1110004F10 gene
Synonyms sid2057
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R9063 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 115680596-115704445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 115703660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 178 (S178A)
Ref Sequence ENSEMBL: ENSMUSP00000032899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032899] [ENSMUST00000106607] [ENSMUST00000106608] [ENSMUST00000151254] [ENSMUST00000205427] [ENSMUST00000205450]
AlphaFold Q9R0P4
Predicted Effect probably benign
Transcript: ENSMUST00000032899
AA Change: S178A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032899
Gene: ENSMUSG00000030663
AA Change: S178A

DomainStartEndE-ValueType
Pfam:SMAP 27 103 1.1e-17 PFAM
low complexity region 105 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106607
AA Change: S91A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102218
Gene: ENSMUSG00000030663
AA Change: S91A

DomainStartEndE-ValueType
low complexity region 18 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106608
AA Change: S134A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102219
Gene: ENSMUSG00000030663
AA Change: S134A

DomainStartEndE-ValueType
Pfam:SMAP 1 59 7.8e-10 PFAM
low complexity region 61 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151254
SMART Domains Protein: ENSMUSP00000116035
Gene: ENSMUSG00000030663

DomainStartEndE-ValueType
Pfam:SMAP 26 79 4.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205427
Predicted Effect probably benign
Transcript: ENSMUST00000205450
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T C 19: 53,222,302 (GRCm39) L303P probably damaging Het
Agr2 T A 12: 36,053,898 (GRCm39) *176K probably null Het
Apobr C T 7: 126,185,920 (GRCm39) T477I probably benign Het
Cdca7l G A 12: 117,838,536 (GRCm39) V336M probably damaging Het
Cep63 T G 9: 102,496,227 (GRCm39) H18P unknown Het
Copa A G 1: 171,944,529 (GRCm39) D838G probably benign Het
Cspg4 G T 9: 56,795,687 (GRCm39) V1141L probably benign Het
D930020B18Rik A G 10: 121,497,002 (GRCm39) T146A probably benign Het
Dapk1 A T 13: 60,866,264 (GRCm39) I206L probably benign Het
Emsy C T 7: 98,295,684 (GRCm39) D73N probably damaging Het
Esr2 A T 12: 76,168,590 (GRCm39) Y540N probably benign Het
Exoc7 C A 11: 116,180,101 (GRCm39) V668L probably benign Het
Fcgbp C T 7: 27,791,277 (GRCm39) T846I probably damaging Het
Fhod3 A G 18: 25,153,772 (GRCm39) E418G probably damaging Het
Fryl G A 5: 73,238,346 (GRCm39) R1467C possibly damaging Het
Gas2l3 A G 10: 89,249,558 (GRCm39) I520T probably benign Het
Gfod1 A G 13: 43,354,280 (GRCm39) C232R probably benign Het
Gpr61 T C 3: 108,057,555 (GRCm39) R369G probably benign Het
Hk1 T C 10: 62,122,429 (GRCm39) Y423C probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Jmy T C 13: 93,635,580 (GRCm39) R79G probably benign Het
Kcnn4 T A 7: 24,076,934 (GRCm39) V161E probably damaging Het
Kif15 T A 9: 122,833,706 (GRCm39) I1040N probably damaging Het
Kif2b A G 11: 91,466,654 (GRCm39) L543S probably damaging Het
Kpna2 A G 11: 106,883,489 (GRCm39) I81T probably benign Het
Krt12 A G 11: 99,307,757 (GRCm39) S444P probably benign Het
Lmnb2 C T 10: 80,742,005 (GRCm39) V29M probably benign Het
Lmod2 T C 6: 24,603,364 (GRCm39) V113A probably benign Het
Lrp1b T C 2: 41,231,838 (GRCm39) T1211A Het
Lrrc8d T C 5: 105,961,959 (GRCm39) S790P probably damaging Het
Map3k4 A G 17: 12,482,878 (GRCm39) V613A probably damaging Het
Marveld2 T C 13: 100,748,653 (GRCm39) N142S probably benign Het
Mgll G A 6: 88,802,690 (GRCm39) V282I possibly damaging Het
Mief2 G A 11: 60,622,314 (GRCm39) E295K probably damaging Het
Mmrn2 A T 14: 34,120,567 (GRCm39) H479L probably benign Het
Myh15 T A 16: 48,913,118 (GRCm39) N358K probably benign Het
Mzf1 T G 7: 12,787,005 (GRCm39) K101Q probably damaging Het
Ncbp3 T A 11: 72,964,253 (GRCm39) L401Q probably damaging Het
Nck2 T C 1: 43,593,503 (GRCm39) C237R possibly damaging Het
Nlrp9a T G 7: 26,273,291 (GRCm39) N976K possibly damaging Het
Nol11 A G 11: 107,064,240 (GRCm39) V524A probably benign Het
Nol11 T C 11: 107,069,857 (GRCm39) Y331C possibly damaging Het
Nsmf A T 2: 24,952,622 (GRCm39) H149L probably benign Het
Olfm3 T C 3: 114,914,582 (GRCm39) V231A probably benign Het
Or1l4b A T 2: 37,036,646 (GRCm39) M141L probably benign Het
Or51a6 A G 7: 102,604,446 (GRCm39) S121P probably benign Het
Or55b4 T C 7: 102,133,931 (GRCm39) Y132C probably damaging Het
Pcdhgb5 T A 18: 37,864,739 (GRCm39) F178Y probably damaging Het
Plk2 T A 13: 110,532,920 (GRCm39) S160R possibly damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ppp1cc A G 5: 122,306,279 (GRCm39) N33D probably benign Het
Ptpn23 T C 9: 110,218,693 (GRCm39) E499G possibly damaging Het
Pwp1 A G 10: 85,720,431 (GRCm39) H356R probably benign Het
Rbsn G T 6: 92,171,000 (GRCm39) T307K probably benign Het
Rnf19a G A 15: 36,265,615 (GRCm39) Q161* probably null Het
Scin T C 12: 40,134,336 (GRCm39) D236G possibly damaging Het
Setd1a G A 7: 127,385,558 (GRCm39) R755H possibly damaging Het
Sik3 C T 9: 46,123,735 (GRCm39) T1178I probably benign Het
Slc49a3 A G 5: 108,590,103 (GRCm39) L433P probably damaging Het
Tex26 C T 5: 149,393,826 (GRCm39) R272C probably damaging Het
Trim60 T A 8: 65,453,465 (GRCm39) K261N possibly damaging Het
Tspan9 A G 6: 127,944,072 (GRCm39) I76T probably damaging Het
Ttn T A 2: 76,588,833 (GRCm39) Y21412F probably damaging Het
Ttn A T 2: 76,710,907 (GRCm39) I8409N unknown Het
Unc80 T C 1: 66,645,816 (GRCm39) probably null Het
Ush2a A T 1: 187,995,457 (GRCm39) Q76L probably benign Het
Usp1 G A 4: 98,819,389 (GRCm39) V284I probably benign Het
Usp31 A G 7: 121,306,466 (GRCm39) V4A probably benign Het
Vmn2r88 G A 14: 51,648,329 (GRCm39) probably benign Het
Zfp959 G A 17: 56,204,221 (GRCm39) R86K probably benign Het
Other mutations in 1110004F10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2391:1110004F10Rik UTSW 7 115,703,461 (GRCm39) missense probably damaging 0.99
R4789:1110004F10Rik UTSW 7 115,692,757 (GRCm39) missense probably benign 0.03
R6249:1110004F10Rik UTSW 7 115,702,505 (GRCm39) missense probably damaging 1.00
R6802:1110004F10Rik UTSW 7 115,698,725 (GRCm39) missense probably damaging 1.00
R7960:1110004F10Rik UTSW 7 115,702,481 (GRCm39) missense possibly damaging 0.83
R8509:1110004F10Rik UTSW 7 115,703,669 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CCTCATAGGCCTTTGGTTGATG -3'
(R):5'- GTAACCCATGGCATTTGAAAGC -3'

Sequencing Primer
(F):5'- GTTTTAGGTAGAAGATCATGATGGAG -3'
(R):5'- TGGCATTTGAAAGCAAACACTC -3'
Posted On 2021-11-19