Incidental Mutation 'R8848:1110059G10Rik'
ID 674834
Institutional Source Beutler Lab
Gene Symbol 1110059G10Rik
Ensembl Gene ENSMUSG00000032551
Gene Name RIKEN cDNA 1110059G10 gene
Synonyms
MMRRC Submission 068671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8848 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 122774154-122780065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122778106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 46 (D46G)
Ref Sequence ENSEMBL: ENSMUSP00000035154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035154] [ENSMUST00000040717] [ENSMUST00000118422] [ENSMUST00000213745] [ENSMUST00000214652] [ENSMUST00000217401]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035154
AA Change: D46G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035154
Gene: ENSMUSG00000032551
AA Change: D46G

DomainStartEndE-ValueType
Pfam:DUF4604 4 152 6.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040717
SMART Domains Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768

DomainStartEndE-ValueType
KISc 24 371 2.86e-179 SMART
Pfam:Kinesin-relat_1 463 551 6.6e-26 PFAM
coiled coil region 579 643 N/A INTRINSIC
coiled coil region 706 1037 N/A INTRINSIC
coiled coil region 1065 1133 N/A INTRINSIC
Pfam:HMMR_C 1265 1387 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118422
Predicted Effect probably benign
Transcript: ENSMUST00000213745
Predicted Effect probably benign
Transcript: ENSMUST00000214652
Predicted Effect probably benign
Transcript: ENSMUST00000217401
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 45,766,769 (GRCm39) W1004R possibly damaging Het
Acbd3 T A 1: 180,562,084 (GRCm39) probably null Het
Adh1 G T 3: 137,986,262 (GRCm39) C83F probably benign Het
Arhgef18 T C 8: 3,477,481 (GRCm39) V20A probably benign Het
Bmal1 T C 7: 112,905,327 (GRCm39) I506T possibly damaging Het
Brf2 T C 8: 27,616,140 (GRCm39) I82V probably benign Het
C7 A G 15: 5,088,911 (GRCm39) V10A probably damaging Het
Cacna1d C T 14: 29,845,283 (GRCm39) V651M possibly damaging Het
Cacna2d2 T C 9: 107,391,855 (GRCm39) I458T possibly damaging Het
Cadps2 C A 6: 23,344,256 (GRCm39) W897L probably damaging Het
Cdhr1 T A 14: 36,802,531 (GRCm39) N644I probably benign Het
Cox7c A T 13: 86,193,900 (GRCm39) I55K possibly damaging Het
Cox8c T A 12: 102,865,577 (GRCm39) probably benign Het
Cyp2c40 G A 19: 39,801,244 (GRCm39) R4C unknown Het
Ehd3 A T 17: 74,136,911 (GRCm39) probably null Het
Eif2b4 A T 5: 31,348,210 (GRCm39) C227S probably damaging Het
Erlec1 T C 11: 30,898,411 (GRCm39) Y213C probably damaging Het
F11 G T 8: 45,695,281 (GRCm39) Y562* probably null Het
Fam186a A G 15: 99,838,034 (GRCm39) S2737P possibly damaging Het
Fat3 T C 9: 15,878,398 (GRCm39) E3361G probably damaging Het
Fbxl7 T A 15: 26,552,902 (GRCm39) M122L probably benign Het
Fras1 T A 5: 96,929,207 (GRCm39) N3870K probably damaging Het
Gm12185 T A 11: 48,806,280 (GRCm39) T304S possibly damaging Het
Grin3b A T 10: 79,809,667 (GRCm39) D391V probably benign Het
Hao2 T A 3: 98,784,528 (GRCm39) D279V probably damaging Het
Il4i1 C A 7: 44,489,175 (GRCm39) D313E probably damaging Het
Kcnk7 T A 19: 5,756,743 (GRCm39) L244Q probably damaging Het
Lingo4 A T 3: 94,310,840 (GRCm39) M593L probably benign Het
Lix1 G A 17: 17,663,955 (GRCm39) A98T probably damaging Het
Lpo T A 11: 87,708,603 (GRCm39) I132L probably benign Het
Mymx A T 17: 45,912,935 (GRCm39) probably null Het
Nms T C 1: 38,978,391 (GRCm39) S9P probably benign Het
Nom1 A G 5: 29,645,137 (GRCm39) D535G probably damaging Het
Or2t43 T A 11: 58,457,902 (GRCm39) I90F probably damaging Het
Or5p81 T A 7: 108,266,929 (GRCm39) I102N probably benign Het
Or8k25 T C 2: 86,243,821 (GRCm39) T192A probably benign Het
Pgbd1 A G 13: 21,607,052 (GRCm39) C381R probably damaging Het
Pkp1 T C 1: 135,807,652 (GRCm39) S539G probably damaging Het
Plcd3 C A 11: 102,971,446 (GRCm39) R66L probably benign Het
Polr3a A T 14: 24,500,834 (GRCm39) L1318Q probably damaging Het
Ppara T A 15: 85,673,188 (GRCm39) F126L possibly damaging Het
Rab11a T C 9: 64,624,264 (GRCm39) Y173C probably damaging Het
Rev3l T A 10: 39,722,705 (GRCm39) M2566K probably damaging Het
Rwdd1 A G 10: 33,884,987 (GRCm39) probably null Het
Scn7a G A 2: 66,530,393 (GRCm39) R651* probably null Het
Slc15a4 T G 5: 127,679,021 (GRCm39) I440L probably benign Het
Slc28a2 A G 2: 122,290,902 (GRCm39) T623A probably benign Het
Snd1 T A 6: 28,874,962 (GRCm39) S628T possibly damaging Het
Speg T C 1: 75,404,082 (GRCm39) probably null Het
Spta1 G A 1: 174,025,310 (GRCm39) R725K probably benign Het
Stag3 A G 5: 138,288,528 (GRCm39) E185G probably null Het
Svop G T 5: 114,183,687 (GRCm39) T195K Het
Tbc1d5 A T 17: 51,226,082 (GRCm39) F254I probably damaging Het
Ulk3 T C 9: 57,496,890 (GRCm39) L8P probably benign Het
Unc13c T C 9: 73,433,263 (GRCm39) I1973V probably benign Het
Upb1 T A 10: 75,264,178 (GRCm39) probably null Het
Usp53 C T 3: 122,742,825 (GRCm39) G704S probably benign Het
Usp53 T C 3: 122,743,235 (GRCm39) D567G probably benign Het
Vmn1r72 T A 7: 11,404,269 (GRCm39) I60F probably damaging Het
Vmn2r34 C T 7: 7,675,307 (GRCm39) V694I probably benign Het
Vmn2r60 T C 7: 41,786,169 (GRCm39) F324S probably damaging Het
Vps37d A G 5: 135,102,519 (GRCm39) S238P probably damaging Het
Zfp407 T A 18: 84,578,819 (GRCm39) I765F probably damaging Het
Zfp455 A G 13: 67,356,089 (GRCm39) I387M possibly damaging Het
Other mutations in 1110059G10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:1110059G10Rik APN 9 122,777,056 (GRCm39) missense probably benign 0.01
IGL03120:1110059G10Rik APN 9 122,778,118 (GRCm39) missense probably benign 0.01
R4908:1110059G10Rik UTSW 9 122,778,008 (GRCm39) missense probably benign 0.28
R8314:1110059G10Rik UTSW 9 122,777,993 (GRCm39) missense probably benign
R9052:1110059G10Rik UTSW 9 122,778,031 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGGTTGGCCTATTTTAGCAATAG -3'
(R):5'- TGGAGAAGTTTCCCAGTTTCTG -3'

Sequencing Primer
(F):5'- GCTCAAGGTTACACATCTGGTAC -3'
(R):5'- GCCTGGAAATCACTGTGTAGACC -3'
Posted On 2021-07-15