Incidental Mutation 'R0178:4930596D02Rik'
ID23778
Institutional Source Beutler Lab
Gene Symbol 4930596D02Rik
Ensembl Gene ENSMUSG00000041068
Gene NameRIKEN cDNA 4930596D02 gene
Synonyms
MMRRC Submission 038446-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #R0178 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location35809488-35811978 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 35811478 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 111 (N111T)
Ref Sequence ENSEMBL: ENSMUSP00000039186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043266]
Predicted Effect probably benign
Transcript: ENSMUST00000043266
AA Change: N111T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: N111T

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
RasGEFN 64 186 8.6e-14 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,178,438 H94R probably benign Het
4922502D21Rik T C 6: 129,326,823 R60G probably benign Het
9930021J03Rik A G 19: 29,754,788 S342P probably damaging Het
Abca1 T C 4: 53,081,953 D769G possibly damaging Het
Adcy6 G T 15: 98,604,215 Q173K probably benign Het
Amotl1 G A 9: 14,548,773 A890V probably benign Het
Arfgap2 C T 2: 91,267,361 A141V probably benign Het
Asb2 G A 12: 103,325,552 P324L probably damaging Het
Cacna1g G A 11: 94,463,483 T202I probably damaging Het
Capn5 A G 7: 98,132,891 L214P probably damaging Het
Cdh20 A T 1: 104,975,051 D489V possibly damaging Het
Cers5 C A 15: 99,747,024 probably benign Het
Chrnb3 T A 8: 27,393,364 V111D probably damaging Het
Colec12 C T 18: 9,858,921 P568L unknown Het
Cyp2r1 T C 7: 114,550,408 E248G probably damaging Het
Dnmt3b A G 2: 153,675,018 T536A probably benign Het
Eef2 G A 10: 81,180,292 V496M possibly damaging Het
Fam118a T C 15: 85,045,880 probably benign Het
Fer1l6 T A 15: 58,637,914 probably null Het
Fhad1 A C 4: 141,955,340 F497V probably benign Het
Gbe1 G A 16: 70,478,386 G358D probably damaging Het
Gdf10 A G 14: 33,924,101 D69G probably damaging Het
Ggt6 A G 11: 72,436,818 H150R possibly damaging Het
Gm1966 A T 7: 106,601,821 Y739N probably damaging Het
Gm45713 A T 7: 45,134,458 L110Q probably damaging Het
Gm9847 T C 12: 14,494,648 noncoding transcript Het
Grwd1 T C 7: 45,830,630 E51G probably damaging Het
H13 A G 2: 152,681,067 Y100C probably damaging Het
Kcne1 A C 16: 92,348,809 M49R probably damaging Het
Kcnma1 C T 14: 23,526,767 R236H probably damaging Het
Knl1 T A 2: 119,058,405 probably benign Het
Krt40 T C 11: 99,541,739 I150M probably damaging Het
Ldb2 A T 5: 44,473,499 V300E probably damaging Het
Lrp1b A T 2: 40,725,907 C3606S probably damaging Het
Lrrc42 A G 4: 107,247,720 I16T probably damaging Het
Lrrc6 A C 15: 66,454,101 D208E probably benign Het
Mtus1 G T 8: 41,002,361 L87I possibly damaging Het
Myot T C 18: 44,336,986 F10S probably damaging Het
Nrg3 A T 14: 38,376,456 H480Q probably damaging Het
Olfr205 A T 16: 59,329,420 F30I probably damaging Het
Olfr691 G A 7: 105,336,922 R265C probably benign Het
Prl2c5 A T 13: 13,191,805 D220V probably damaging Het
Rbm17 G A 2: 11,587,779 S295L probably benign Het
Serpina6 A G 12: 103,646,913 I376T probably damaging Het
Sh2d2a A T 3: 87,849,423 T192S probably benign Het
Slc27a1 T C 8: 71,584,462 Y417H possibly damaging Het
Slc6a1 T G 6: 114,304,852 I32S possibly damaging Het
Sntb1 T C 15: 55,906,144 T150A probably damaging Het
Tanc1 T A 2: 59,835,447 C1183* probably null Het
Tmprss7 C A 16: 45,690,843 W57C probably damaging Het
Ubac1 A T 2: 26,021,428 V36E possibly damaging Het
Zfc3h1 T C 10: 115,406,725 probably benign Het
Zfp644 C T 5: 106,636,905 C592Y probably damaging Het
Other mutations in 4930596D02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:4930596D02Rik APN 14 35810213 missense possibly damaging 0.95
IGL01622:4930596D02Rik APN 14 35810067 nonsense probably null
IGL01623:4930596D02Rik APN 14 35810067 nonsense probably null
IGL02049:4930596D02Rik APN 14 35811578 missense probably benign 0.19
IGL02275:4930596D02Rik APN 14 35811923 missense probably benign 0.44
IGL02668:4930596D02Rik APN 14 35810117 missense probably benign 0.02
IGL02684:4930596D02Rik APN 14 35810063 nonsense probably null
R0601:4930596D02Rik UTSW 14 35810189 missense probably damaging 1.00
R0609:4930596D02Rik UTSW 14 35811461 critical splice donor site probably null
R1664:4930596D02Rik UTSW 14 35811815 missense probably benign 0.01
R1899:4930596D02Rik UTSW 14 35810132 missense probably damaging 1.00
R5153:4930596D02Rik UTSW 14 35810255 missense probably benign 0.00
R6222:4930596D02Rik UTSW 14 35809966 makesense probably null
R6935:4930596D02Rik UTSW 14 35811907 missense probably benign
R7314:4930596D02Rik UTSW 14 35811649 missense probably benign
R8422:4930596D02Rik UTSW 14 35810052 missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CAAGCCTGCGAGAAGCAGTTTTATG -3'
(R):5'- TGTATCCGCCCCAGAAGATCCAAG -3'

Sequencing Primer
(F):5'- aaacacacacacacacacac -3'
(R):5'- GGGAGCACTGTACACAGTCAC -3'
Posted On2013-04-16