Incidental Mutation 'R1102:1700010I14Rik'
ID 98218
Institutional Source Beutler Lab
Gene Symbol 1700010I14Rik
Ensembl Gene ENSMUSG00000023873
Gene Name RIKEN cDNA 1700010I14 gene
Synonyms
MMRRC Submission 039175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1102 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 9207152-9227151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9211460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 203 (T203M)
Ref Sequence ENSEMBL: ENSMUSP00000118841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024650] [ENSMUST00000151609]
AlphaFold Q7TPG0
Predicted Effect probably damaging
Transcript: ENSMUST00000024650
AA Change: T203M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: T203M

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 damaging
Transcript: ENSMUST00000151609
AA Change: T203M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873
AA Change: T203M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 C T 19: 4,037,850 (GRCm39) T119I probably damaging Het
Ccdc6 C A 10: 70,023,636 (GRCm39) H400Q possibly damaging Het
Ccna1 T C 3: 54,958,281 (GRCm39) D134G probably damaging Het
Cct2 A T 10: 116,896,545 (GRCm39) probably null Het
Cd36 A G 5: 18,019,211 (GRCm39) F170S possibly damaging Het
Cep350 G A 1: 155,807,264 (GRCm39) P718S probably damaging Het
Cimip1 T A 2: 173,364,516 (GRCm39) D20E probably damaging Het
Ctnna3 A T 10: 64,421,774 (GRCm39) I523L probably benign Het
Dnah1 G T 14: 31,018,414 (GRCm39) Y1405* probably null Het
Dnah8 T A 17: 31,073,738 (GRCm39) probably null Het
Drd3 T C 16: 43,582,846 (GRCm39) L113S probably damaging Het
Emsy T C 7: 98,251,796 (GRCm39) T735A probably damaging Het
Epha5 A G 5: 84,381,434 (GRCm39) probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxo10 A G 4: 45,043,672 (GRCm39) L717P probably damaging Het
Galnt10 T C 11: 57,671,871 (GRCm39) probably benign Het
Gle1 T G 2: 29,834,066 (GRCm39) I437M possibly damaging Het
Gpr137b T C 13: 13,539,616 (GRCm39) probably benign Het
Gsta1 T C 9: 78,149,777 (GRCm39) F197L probably damaging Het
Icam1 G A 9: 20,939,132 (GRCm39) V502M possibly damaging Het
Ido1 T A 8: 25,083,156 (GRCm39) I90F probably damaging Het
Il4ra G A 7: 125,173,889 (GRCm39) probably null Het
Med12l T A 3: 59,152,257 (GRCm39) M1014K probably damaging Het
Mmp13 A G 9: 7,272,952 (GRCm39) E104G possibly damaging Het
Mms19 T C 19: 41,939,284 (GRCm39) E495G possibly damaging Het
Mrc2 A G 11: 105,231,647 (GRCm39) I820V probably benign Het
Naip6 T C 13: 100,440,923 (GRCm39) K286E possibly damaging Het
Ndrg1 T C 15: 66,816,685 (GRCm39) Y110C probably damaging Het
Or1e1c G A 11: 73,265,700 (GRCm39) V45I probably benign Het
Or4a78 A T 2: 89,497,814 (GRCm39) C139S probably damaging Het
Or5b118 T C 19: 13,448,771 (GRCm39) C146R probably damaging Het
Or5b3 G A 19: 13,388,454 (GRCm39) V174M probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pnpla7 G T 2: 24,886,177 (GRCm39) M3I probably damaging Het
Popdc3 A G 10: 45,192,642 (GRCm39) probably benign Het
Ppp5c A G 7: 16,756,368 (GRCm39) F112S probably benign Het
Rbp3 A G 14: 33,678,313 (GRCm39) T754A possibly damaging Het
Reep6 A G 10: 80,171,080 (GRCm39) T319A probably benign Het
Rfx3 A G 19: 27,845,000 (GRCm39) V43A possibly damaging Het
Rint1 A G 5: 24,010,565 (GRCm39) probably benign Het
Sacm1l T G 9: 123,411,363 (GRCm39) V384G probably damaging Het
Shox2 A T 3: 66,885,628 (GRCm39) L149Q probably damaging Het
Sipa1 T C 19: 5,702,782 (GRCm39) H805R probably benign Het
Skic2 T C 17: 35,059,082 (GRCm39) D1095G probably benign Het
Slc5a3 G T 16: 91,874,765 (GRCm39) W274L probably damaging Het
Spata31e4 A G 13: 50,857,118 (GRCm39) T919A probably benign Het
Sptbn1 G T 11: 30,070,785 (GRCm39) H1524Q possibly damaging Het
Ssr1 G T 13: 38,171,591 (GRCm39) Q149K probably benign Het
Taf7l2 T C 10: 115,949,299 (GRCm39) S76G probably damaging Het
Thsd7a T C 6: 12,555,701 (GRCm39) D61G possibly damaging Het
Tmem245 T C 4: 56,903,200 (GRCm39) probably benign Het
Tmem74 T C 15: 43,730,186 (GRCm39) T286A probably benign Het
Tnc T C 4: 63,938,705 (GRCm39) N45D probably benign Het
Trdmt1 T G 2: 13,528,225 (GRCm39) probably benign Het
Uty A T Y: 1,174,741 (GRCm39) Y220N probably damaging Het
Vdr T C 15: 97,757,002 (GRCm39) Y290C probably damaging Het
Vmn2r19 T A 6: 123,313,132 (GRCm39) M734K probably benign Het
Vmn2r53 T C 7: 12,332,410 (GRCm39) D413G possibly damaging Het
Vps45 A G 3: 95,950,253 (GRCm39) 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
IGL03024:1700010I14Rik APN 17 9,212,464 (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
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
Predicted Primers PCR Primer
(F):5'- TTCACTTTACAGTGAGCACAGCCC -3'
(R):5'- TTGACAGCATTGCCGAGTTCCC -3'

Sequencing Primer
(F):5'- CCGTGCTCTCAAAGATGGTG -3'
(R):5'- Ccatacacacacacacacacac -3'
Posted On 2014-01-05