Incidental Mutation 'R6249:1110004F10Rik'
ID 505849
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 # R6249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 115680596-115704445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115702505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 90 (S90C)
Ref Sequence ENSEMBL: ENSMUSP00000032899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032899] [ENSMUST00000106607] [ENSMUST00000106608] [ENSMUST00000151254] [ENSMUST00000205427] [ENSMUST00000205450]
AlphaFold Q9R0P4
Predicted Effect probably damaging
Transcript: ENSMUST00000032899
AA Change: S90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032899
Gene: ENSMUSG00000030663
AA Change: S90C

DomainStartEndE-ValueType
Pfam:SMAP 27 103 1.1e-17 PFAM
low complexity region 105 155 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106607
AA Change: S3C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102218
Gene: ENSMUSG00000030663
AA Change: S3C

DomainStartEndE-ValueType
low complexity region 18 68 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106608
AA Change: S46C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102219
Gene: ENSMUSG00000030663
AA Change: S46C

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 possibly damaging
Transcript: ENSMUST00000205450
AA Change: S46C

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,036,453 (GRCm39) D552G probably benign Het
Adgrb3 A G 1: 25,471,639 (GRCm39) L502P probably damaging Het
Agmo T C 12: 37,293,837 (GRCm39) probably null Het
Ank3 A G 10: 69,658,906 (GRCm39) probably null Het
Apol11b G T 15: 77,519,537 (GRCm39) T181K probably benign Het
Arap2 G T 5: 62,803,536 (GRCm39) H1244N probably damaging Het
Arid1b A T 17: 5,329,636 (GRCm39) M838L possibly damaging Het
Aste1 G A 9: 105,273,816 (GRCm39) V19I probably benign Het
B3gnt3 A T 8: 72,145,306 (GRCm39) M354K probably damaging Het
Calcr A T 6: 3,692,711 (GRCm39) M381K possibly damaging Het
Ccdc63 A C 5: 122,263,062 (GRCm39) L160W probably benign Het
Cerkl A G 2: 79,199,122 (GRCm39) L156P probably damaging Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddb1 C A 19: 10,583,084 (GRCm39) Y5* probably null Het
Fignl2 T C 15: 100,952,060 (GRCm39) E74G possibly damaging Het
Glb1l2 C T 9: 26,676,850 (GRCm39) probably benign Het
Gm16503 A G 4: 147,625,508 (GRCm39) M1V probably null Het
Gm2696 A C 10: 77,630,646 (GRCm39) probably benign Het
Gm45844 A G 7: 7,243,092 (GRCm39) S20P probably benign Het
Gm7579 C T 7: 141,765,743 (GRCm39) P50S unknown Het
Idh1 A G 1: 65,205,378 (GRCm39) S196P probably damaging Het
Il1rap T C 16: 26,511,598 (GRCm39) V214A possibly damaging Het
Kctd17 C G 15: 78,314,239 (GRCm39) probably null Het
Lama1 G T 17: 68,105,599 (GRCm39) V2036L probably benign Het
Lars1 G T 18: 42,390,271 (GRCm39) probably null Het
Mdn1 T A 4: 32,708,484 (GRCm39) V1670E possibly damaging Het
Mtmr7 A T 8: 41,034,524 (GRCm39) I266N probably damaging Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 26,999,349 (GRCm39) probably benign Het
Nckap5 T C 1: 125,952,667 (GRCm39) E1295G probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Or13p3 A G 4: 118,566,910 (GRCm39) Y102C probably damaging Het
Or2a5 G T 6: 42,874,238 (GRCm39) L284F probably damaging Het
Or2aj4 T A 16: 19,384,725 (GRCm39) N303Y probably damaging Het
Or51q1 A T 7: 103,628,818 (GRCm39) S140C possibly damaging Het
Or5h22 T C 16: 58,894,795 (GRCm39) Y216C probably damaging Het
Or8b44 T G 9: 38,410,880 (GRCm39) I305R unknown Het
Pcdha4 T A 18: 37,086,729 (GRCm39) V304E probably damaging Het
Pde6c T C 19: 38,147,008 (GRCm39) probably null Het
Pebp4 A T 14: 70,297,099 (GRCm39) T213S possibly damaging Het
Phf2 C A 13: 48,959,348 (GRCm39) R886L unknown Het
Pik3ca A T 3: 32,515,712 (GRCm39) H795L probably damaging Het
Pisd G T 5: 32,896,188 (GRCm39) T379N probably damaging Het
Pld2 T C 11: 70,446,196 (GRCm39) L732P probably damaging Het
Pskh1 A G 8: 106,639,617 (GRCm39) D99G possibly damaging Het
Rest A G 5: 77,429,071 (GRCm39) T497A probably benign Het
Rps24 C T 14: 24,543,530 (GRCm39) T108M possibly damaging Het
Rtel1 C T 2: 180,993,475 (GRCm39) R566C probably damaging Het
Scyl2 A G 10: 89,493,719 (GRCm39) S350P possibly damaging Het
Slc38a7 G T 8: 96,564,302 (GRCm39) probably null Het
Sox5 A G 6: 143,779,009 (GRCm39) I674T probably benign Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
Surf4 C A 2: 26,816,899 (GRCm39) E39D probably damaging Het
Tas2r144 T A 6: 42,192,291 (GRCm39) Y10* probably null Het
Thbs4 C T 13: 92,911,215 (GRCm39) G323R probably damaging Het
Top2b A G 14: 16,399,006 (GRCm38) Y542C probably damaging Het
Trim61 A G 8: 65,467,108 (GRCm39) V51A probably benign Het
Tyrp1 T A 4: 80,769,009 (GRCm39) I501N possibly damaging Het
U2surp C T 9: 95,382,869 (GRCm39) D32N probably benign Het
Ush1c T C 7: 45,864,383 (GRCm39) Y411C probably damaging Het
Vwa7 G A 17: 35,242,365 (GRCm39) V490I probably benign Het
Xylt1 G T 7: 117,266,528 (GRCm39) A849S probably benign Het
Ythdc1 T A 5: 86,979,815 (GRCm39) N599K possibly damaging Het
Zbtb38 T A 9: 96,568,045 (GRCm39) Y1013F probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zswim9 T C 7: 12,994,903 (GRCm39) S418G probably damaging 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
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
R9063:1110004F10Rik UTSW 7 115,703,660 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTAGAGACCTCAGCCCTGAATAG -3'
(R):5'- GCTGACAAGAAAGCACTCTCTC -3'

Sequencing Primer
(F):5'- CCCTGAATAGAAGAGCCTCTGTTTTG -3'
(R):5'- GGATACACAGTGAAACCCTGTCTTG -3'
Posted On 2018-02-28