Incidental Mutation 'IGL03024:1700010I14Rik'
ID 408072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700010I14Rik
Ensembl Gene ENSMUSG00000023873
Gene Name RIKEN cDNA 1700010I14 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03024
Quality Score
Status
Chromosome 17
Chromosomal Location 9207152-9227151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9212464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 257 (F257L)
Ref Sequence ENSEMBL: ENSMUSP00000024650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024650] [ENSMUST00000151609]
AlphaFold Q7TPG0
Predicted Effect probably benign
Transcript: ENSMUST00000024650
AA Change: F257L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: F257L

DomainStartEndE-ValueType
coiled coil region 135 165 N/A INTRINSIC
Pfam:TSNAXIP1_N 239 349 6.1e-36 PFAM
low complexity region 351 364 N/A INTRINSIC
low complexity region 372 385 N/A INTRINSIC
coiled coil region 421 466 N/A INTRINSIC
low complexity region 501 519 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136954
Predicted Effect probably benign
Transcript: ENSMUST00000151609
AA Change: F257L

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873
AA Change: F257L

DomainStartEndE-ValueType
coiled coil region 135 165 N/A INTRINSIC
coiled coil region 321 370 N/A INTRINSIC
low complexity region 372 385 N/A INTRINSIC
coiled coil region 421 466 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,258,926 (GRCm39) probably benign Het
AI661453 C T 17: 47,757,513 (GRCm39) R57W probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bahd1 T C 2: 118,746,597 (GRCm39) V72A probably damaging Het
Bcl3 A G 7: 19,543,059 (GRCm39) probably benign Het
Blnk A T 19: 40,982,445 (GRCm39) probably benign Het
Cd81 T C 7: 142,621,089 (GRCm39) I230T probably benign Het
Cdc20b A T 13: 113,227,576 (GRCm39) R485S possibly damaging Het
Cenpp C A 13: 49,617,730 (GRCm39) A273S probably benign Het
Cep295 A G 9: 15,236,868 (GRCm39) V2022A probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cfap61 C A 2: 145,781,919 (GRCm39) probably benign Het
Col8a1 T A 16: 57,448,727 (GRCm39) H261L unknown Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
D930020B18Rik T C 10: 121,521,527 (GRCm39) probably benign Het
Dhdds A T 4: 133,710,160 (GRCm39) L203Q probably damaging Het
Dusp6 A G 10: 99,102,156 (GRCm39) T381A probably damaging Het
Elp1 A G 4: 56,774,686 (GRCm39) probably null Het
Fnbp4 A G 2: 90,581,523 (GRCm39) D192G probably benign Het
Gbp2 G T 3: 142,337,780 (GRCm39) V299F probably damaging Het
Gfpt1 G T 6: 87,030,813 (GRCm39) V66F probably damaging Het
Heatr1 T C 13: 12,422,390 (GRCm39) probably benign Het
Irf8 T A 8: 121,480,097 (GRCm39) S112T probably damaging Het
Jmy G T 13: 93,635,707 (GRCm39) N36K probably damaging Het
Kcnt2 T C 1: 140,498,193 (GRCm39) I866T probably benign Het
Kif1c A T 11: 70,596,015 (GRCm39) M210L probably damaging Het
Kng1 G A 16: 22,893,442 (GRCm39) V272I possibly damaging Het
Lrig2 A C 3: 104,401,389 (GRCm39) M166R probably damaging Het
Mastl A G 2: 23,029,931 (GRCm39) L265P probably damaging Het
Mmp27 A G 9: 7,581,377 (GRCm39) T547A probably benign Het
Myh4 T C 11: 67,139,305 (GRCm39) C541R probably damaging Het
Naip2 A T 13: 100,325,862 (GRCm39) F15L possibly damaging Het
Nipal1 G T 5: 72,820,968 (GRCm39) probably null Het
Nrp2 A T 1: 62,810,893 (GRCm39) N645Y probably damaging Het
Or1j19 T A 2: 36,676,858 (GRCm39) F107Y possibly damaging Het
Or4g17 T A 2: 111,209,935 (GRCm39) F197I possibly damaging Het
Or7d9 T A 9: 20,197,280 (GRCm39) M103K probably benign Het
Plcl1 T A 1: 55,734,946 (GRCm39) S96T probably damaging Het
Prl2c1 A C 13: 28,040,524 (GRCm39) D139A probably benign Het
Prmt5 A T 14: 54,754,055 (GRCm39) M43K possibly damaging Het
Ptpn21 T A 12: 98,646,315 (GRCm39) M1048L probably benign Het
Ptprq T C 10: 107,521,427 (GRCm39) E653G possibly damaging Het
Rbm6 A G 9: 107,664,567 (GRCm39) S689P probably damaging Het
Rtn3 A G 19: 7,460,455 (GRCm39) probably benign Het
Shoc2 T C 19: 53,991,458 (GRCm39) I241T probably benign Het
Sipa1 A T 19: 5,706,189 (GRCm39) D380E probably damaging Het
Slc1a6 T C 10: 78,650,442 (GRCm39) V560A probably benign Het
Speer2 T C 16: 69,655,003 (GRCm39) H154R possibly damaging Het
Tlk1 A T 2: 70,576,380 (GRCm39) C247* probably null Het
Trim15 A G 17: 37,177,785 (GRCm39) L70P probably damaging Het
Ttc9b T C 7: 27,354,358 (GRCm39) L148P probably damaging Het
Vwa8 C T 14: 79,232,538 (GRCm39) P627S probably benign Het
Other mutations in 1700010I14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:1700010I14Rik APN 17 9,215,937 (GRCm39) critical splice donor site probably null
IGL01569:1700010I14Rik APN 17 9,215,827 (GRCm39) missense probably benign 0.33
IGL03410:1700010I14Rik APN 17 9,220,728 (GRCm39) missense probably damaging 1.00
R0017:1700010I14Rik UTSW 17 9,226,938 (GRCm39) utr 3 prime probably benign
R0017:1700010I14Rik UTSW 17 9,226,938 (GRCm39) utr 3 prime probably benign
R0324:1700010I14Rik UTSW 17 9,219,989 (GRCm39) missense probably benign 0.33
R0361:1700010I14Rik UTSW 17 9,211,378 (GRCm39) missense probably benign 0.39
R0482:1700010I14Rik UTSW 17 9,207,255 (GRCm39) critical splice donor site probably null
R0529:1700010I14Rik UTSW 17 9,211,228 (GRCm39) missense probably benign 0.32
R1102:1700010I14Rik UTSW 17 9,211,460 (GRCm39) missense probably damaging 1.00
R1964:1700010I14Rik UTSW 17 9,211,324 (GRCm39) missense probably damaging 0.99
R3620:1700010I14Rik UTSW 17 9,226,864 (GRCm39) missense probably benign 0.15
R4259:1700010I14Rik UTSW 17 9,214,066 (GRCm39) missense probably damaging 1.00
R4261:1700010I14Rik UTSW 17 9,214,066 (GRCm39) missense probably damaging 1.00
R4687:1700010I14Rik UTSW 17 9,210,985 (GRCm39) missense probably damaging 1.00
R4707:1700010I14Rik UTSW 17 9,224,544 (GRCm39) missense probably damaging 1.00
R4839:1700010I14Rik UTSW 17 9,226,845 (GRCm39) missense probably benign 0.41
R4979:1700010I14Rik UTSW 17 9,220,643 (GRCm39) missense probably damaging 1.00
R5225:1700010I14Rik UTSW 17 9,226,839 (GRCm39) nonsense probably null
R5383:1700010I14Rik UTSW 17 9,211,532 (GRCm39) missense possibly damaging 0.86
R6031:1700010I14Rik UTSW 17 9,214,084 (GRCm39) missense possibly damaging 0.85
R6031:1700010I14Rik UTSW 17 9,214,084 (GRCm39) missense possibly damaging 0.85
R6505:1700010I14Rik UTSW 17 9,220,772 (GRCm39) missense probably benign 0.08
R6736:1700010I14Rik UTSW 17 9,211,100 (GRCm39) missense probably benign 0.01
R7089:1700010I14Rik UTSW 17 9,226,927 (GRCm39) missense probably benign 0.00
R7097:1700010I14Rik UTSW 17 9,224,052 (GRCm39) missense probably damaging 1.00
R7292:1700010I14Rik UTSW 17 9,215,861 (GRCm39) nonsense probably null
R7405:1700010I14Rik UTSW 17 9,220,649 (GRCm39) missense probably damaging 0.99
R7567:1700010I14Rik UTSW 17 9,226,838 (GRCm39) missense probably damaging 1.00
R7877:1700010I14Rik UTSW 17 9,220,665 (GRCm39) missense probably damaging 1.00
R8794:1700010I14Rik UTSW 17 9,226,939 (GRCm39) missense unknown
R8805:1700010I14Rik UTSW 17 9,226,737 (GRCm39) nonsense probably null
R9007:1700010I14Rik UTSW 17 9,226,935 (GRCm39) missense probably benign 0.01
R9308:1700010I14Rik UTSW 17 9,220,667 (GRCm39) nonsense probably null
R9400:1700010I14Rik UTSW 17 9,211,118 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02