Incidental Mutation 'R0055:1700029J07Rik'
ID16016
Institutional Source Beutler Lab
Gene Symbol 1700029J07Rik
Ensembl Gene ENSMUSG00000071103
Gene NameRIKEN cDNA 1700029J07 gene
Synonyms
MMRRC Submission 038349-MU
Accession Numbers

Genbank: NM_001033148; MGI: 1916729

Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #R0055 (G1)
Quality Score
Status Validated
Chromosome8
Chromosomal Location45953606-45975252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45968161 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 108 (S108R)
Ref Sequence ENSEMBL: ENSMUSP00000096383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095323] [ENSMUST00000098786]
Predicted Effect probably damaging
Transcript: ENSMUST00000095323
AA Change: S108R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103
AA Change: S108R

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098786
AA Change: S108R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103
AA Change: S108R

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Meta Mutation Damage Score 0.0668 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 87.2%
  • 10x: 80.9%
  • 20x: 71.2%
Validation Efficiency 85% (52/61)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik T C 13: 58,384,166 D192G probably damaging Het
4921501E09Rik A T 17: 33,066,722 W369R probably damaging Het
A2ml1 T C 6: 128,570,094 probably benign Het
Atp6v1h A T 1: 5,084,454 T2S probably benign Het
BC034090 A T 1: 155,241,658 L238Q probably damaging Het
Ccdc61 T C 7: 18,892,536 D128G probably damaging Het
Dennd5a A G 7: 109,899,791 I955T possibly damaging Het
Ephx4 T C 5: 107,413,078 L32S probably damaging Het
Fbxo21 T A 5: 118,000,490 D493E probably benign Het
Frmd4b A T 6: 97,323,649 probably benign Het
Fzd1 A T 5: 4,756,037 M515K possibly damaging Het
Gli2 A G 1: 118,890,408 probably benign Het
Gm12887 T A 4: 121,616,469 K61N probably damaging Het
Grin2a A T 16: 9,669,807 V409D probably damaging Het
Grin2b T C 6: 135,923,203 I227V probably benign Het
Helz2 T G 2: 181,228,821 D2879A possibly damaging Het
Itpr2 T C 6: 146,323,133 N1453S probably benign Het
Lin7c T A 2: 109,896,453 probably benign Het
Ly75 T C 2: 60,321,918 E1097G probably benign Het
Mcm10 T C 2: 4,991,407 N882D probably damaging Het
Mybph G T 1: 134,193,852 V88L probably damaging Het
Nefm T A 14: 68,121,199 probably benign Het
Nf1 A G 11: 79,471,551 E1497G probably damaging Het
Olfr137 T C 17: 38,304,811 S217G possibly damaging Het
Olfr615 A G 7: 103,561,037 K187E probably damaging Het
Olfr670 T A 7: 104,960,496 T79S possibly damaging Het
Plcd3 C G 11: 103,077,585 W382S probably damaging Het
Plxna1 T A 6: 89,329,739 I1370F possibly damaging Het
Rarb G A 14: 16,509,066 R106C probably damaging Het
Rps6ka5 G A 12: 100,678,580 T37I probably damaging Het
Scube1 A G 15: 83,634,736 V301A probably damaging Het
Slc25a45 T C 19: 5,880,467 F3L probably damaging Het
Slfn10-ps A G 11: 83,030,300 noncoding transcript Het
Slit2 C A 5: 48,281,726 C1077* probably null Het
Ucp1 G T 8: 83,290,604 E8* probably null Het
Zdhhc11 C T 13: 73,982,686 Q295* probably null Het
Zfp457 T A 13: 67,294,034 H63L probably damaging Het
Other mutations in 1700029J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:1700029J07Rik APN 8 45973605 unclassified probably benign
D4043:1700029J07Rik UTSW 8 45956403 missense probably damaging 1.00
R0055:1700029J07Rik UTSW 8 45968161 missense probably damaging 0.99
R0894:1700029J07Rik UTSW 8 45956460 missense probably damaging 1.00
R1585:1700029J07Rik UTSW 8 45956478 missense probably benign 0.19
R4513:1700029J07Rik UTSW 8 45968138 missense probably damaging 1.00
R4600:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4601:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4602:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4603:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4610:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4734:1700029J07Rik UTSW 8 45970417 missense possibly damaging 0.58
R4829:1700029J07Rik UTSW 8 45967915 missense probably damaging 1.00
R5259:1700029J07Rik UTSW 8 45962336 missense probably benign 0.04
Posted On2013-01-08