Incidental Mutation 'IGL01721:1700088E04Rik'
ID 105102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700088E04Rik
Ensembl Gene ENSMUSG00000033029
Gene Name RIKEN cDNA 1700088E04 gene
Synonyms Mus EST J0827E04
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01721
Quality Score
Status
Chromosome 15
Chromosomal Location 79018855-79025451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79023453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 51 (M51V)
Ref Sequence ENSEMBL: ENSMUSP00000139884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040077] [ENSMUST00000040320] [ENSMUST00000169604] [ENSMUST00000186053] [ENSMUST00000186459] [ENSMUST00000187550] [ENSMUST00000190730] [ENSMUST00000190959] [ENSMUST00000189761] [ENSMUST00000190509] [ENSMUST00000188562] [ENSMUST00000229031] [ENSMUST00000230271] [ENSMUST00000229973]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040077
SMART Domains Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020

DomainStartEndE-ValueType
low complexity region 3 37 N/A INTRINSIC
Pfam:RNA_pol_Rpb6 51 104 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040320
SMART Domains Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039

DomainStartEndE-ValueType
CH 4 103 5.64e-19 SMART
low complexity region 113 135 N/A INTRINSIC
LIM 164 219 1.15e-5 SMART
low complexity region 241 250 N/A INTRINSIC
low complexity region 375 394 N/A INTRINSIC
low complexity region 414 467 N/A INTRINSIC
low complexity region 477 497 N/A INTRINSIC
low complexity region 515 530 N/A INTRINSIC
low complexity region 571 586 N/A INTRINSIC
DUF3585 685 825 5.07e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169604
AA Change: M51V

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029
AA Change: M51V

DomainStartEndE-ValueType
Pfam:UPF0193 4 213 3.2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185944
Predicted Effect probably benign
Transcript: ENSMUST00000186053
AA Change: M51V

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140261
Gene: ENSMUSG00000033029
AA Change: M51V

DomainStartEndE-ValueType
Pfam:UPF0193 1 58 3.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186459
SMART Domains Protein: ENSMUSP00000139974
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 54 5e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000187550
AA Change: M51V

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029
AA Change: M51V

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190730
AA Change: M51V

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029
AA Change: M51V

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190959
AA Change: M51V

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029
AA Change: M51V

DomainStartEndE-ValueType
Pfam:UPF0193 1 216 1.5e-75 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000190400
AA Change: M49V
Predicted Effect unknown
Transcript: ENSMUST00000191006
AA Change: M8V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186559
Predicted Effect probably benign
Transcript: ENSMUST00000189761
SMART Domains Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 39 4.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190509
SMART Domains Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 33 195 4.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188562
Predicted Effect probably benign
Transcript: ENSMUST00000229031
Predicted Effect probably benign
Transcript: ENSMUST00000230271
Predicted Effect probably benign
Transcript: ENSMUST00000229973
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,903,563 (GRCm39) probably benign Het
Atp2a2 A G 5: 122,638,855 (GRCm39) V53A possibly damaging Het
Bicra T C 7: 15,722,624 (GRCm39) T298A probably benign Het
Ccdc185 C T 1: 182,576,543 (GRCm39) E49K possibly damaging Het
Cfhr2 A G 1: 139,741,352 (GRCm39) S208P probably benign Het
Chd1 T C 17: 15,990,430 (GRCm39) Y1661H probably damaging Het
Cntnap5a A G 1: 116,085,367 (GRCm39) H435R probably benign Het
Cog8 A G 8: 107,780,697 (GRCm39) V187A probably benign Het
Col24a1 A G 3: 145,244,322 (GRCm39) H1532R probably benign Het
Dpp6 A G 5: 27,836,518 (GRCm39) Y336C probably damaging Het
Drosha T A 15: 12,846,198 (GRCm39) Y444* probably null Het
Egf A T 3: 129,491,371 (GRCm39) C374* probably null Het
Eif2b3 C T 4: 116,916,001 (GRCm39) H203Y probably damaging Het
Erbb4 A G 1: 68,293,722 (GRCm39) V723A possibly damaging Het
Fbxo21 T C 5: 118,126,855 (GRCm39) I202T probably benign Het
Gbp6 T C 5: 105,422,073 (GRCm39) M544V probably benign Het
Gm10750 T C 2: 148,857,964 (GRCm39) T96A unknown Het
Gm8232 A T 14: 44,674,640 (GRCm39) probably null Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Gsdma3 T C 11: 98,528,782 (GRCm39) V412A possibly damaging Het
Hs6st1 A T 1: 36,108,016 (GRCm39) H93L probably damaging Het
Hsf2 G A 10: 57,372,277 (GRCm39) E77K probably benign Het
Ing3 T A 6: 21,968,879 (GRCm39) probably benign Het
Ints6 T C 14: 62,951,188 (GRCm39) I280M probably damaging Het
Kazn C A 4: 141,886,354 (GRCm39) probably null Het
Klhl20 T C 1: 160,923,157 (GRCm39) Y13C probably damaging Het
Krtap26-1 G A 16: 88,444,060 (GRCm39) P187L probably damaging Het
Mga T A 2: 119,765,720 (GRCm39) I1329K probably damaging Het
Mindy4 A G 6: 55,200,984 (GRCm39) D223G probably damaging Het
Ncor2 T C 5: 125,128,001 (GRCm39) E124G probably damaging Het
Nfat5 G A 8: 108,071,611 (GRCm39) probably null Het
Nkain1 A G 4: 130,532,134 (GRCm38) F184L probably benign Het
Or8k25 T C 2: 86,243,677 (GRCm39) T240A probably damaging Het
Rars1 A T 11: 35,719,491 (GRCm39) F110L probably damaging Het
Rfx6 A C 10: 51,599,173 (GRCm39) K509N probably damaging Het
Serpinb2 T C 1: 107,443,333 (GRCm39) L44P probably damaging Het
Sin3a G A 9: 57,002,609 (GRCm39) R167Q probably damaging Het
Sos2 T A 12: 69,650,641 (GRCm39) T809S probably damaging Het
Stard9 A G 2: 120,533,811 (GRCm39) E3356G probably damaging Het
Vmn1r52 A G 6: 90,155,905 (GRCm39) T70A probably benign Het
Other mutations in 1700088E04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1127:1700088E04Rik UTSW 15 79,019,403 (GRCm39) missense probably benign 0.36
R2184:1700088E04Rik UTSW 15 79,019,389 (GRCm39) missense probably damaging 1.00
R4832:1700088E04Rik UTSW 15 79,019,409 (GRCm39) missense probably damaging 1.00
R6870:1700088E04Rik UTSW 15 79,020,608 (GRCm39) missense probably benign 0.00
R7798:1700088E04Rik UTSW 15 79,019,932 (GRCm39) missense probably damaging 0.97
R9495:1700088E04Rik UTSW 15 79,019,842 (GRCm39) missense probably benign 0.02
Posted On 2014-01-21