Incidental Mutation 'R1019:9130401M01Rik'
ID96793
Institutional Source Beutler Lab
Gene Symbol 9130401M01Rik
Ensembl Gene ENSMUSG00000101892
Gene NameRIKEN cDNA 9130401M01 gene
Synonyms
MMRRC Submission 039123-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R1019 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location58022259-58034325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58022427 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 353 (I353T)
Ref Sequence ENSEMBL: ENSMUSP00000098220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100655]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100655
AA Change: I353T

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098220
Gene: ENSMUSG00000101892
AA Change: I353T

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
SCOP:d1elwa_ 49 174 2e-7 SMART
low complexity region 207 220 N/A INTRINSIC
low complexity region 241 278 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187062
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G C 8: 120,145,470 E46Q probably damaging Het
A830031A19Rik G A 11: 24,049,438 R53C unknown Het
Abcc6 T C 7: 46,014,107 R378G possibly damaging Het
Adam10 A G 9: 70,761,640 N413D probably benign Het
Csmd2 T C 4: 128,522,014 V2712A probably benign Het
Dnhd1 T C 7: 105,709,171 F3289S probably damaging Het
Hectd1 A G 12: 51,748,657 S2330P probably damaging Het
Ift74 C T 4: 94,635,835 A196V probably benign Het
Kifc1 G A 17: 33,884,711 R195C probably benign Het
Lipo2 A T 19: 33,730,857 C252* probably null Het
Mrgpra1 C G 7: 47,335,085 C282S probably benign Het
Nfatc2 A T 2: 168,504,879 L765Q probably damaging Het
Olfr355 A G 2: 36,927,752 F121L probably benign Het
Olfr541 C T 7: 140,704,494 P81L probably damaging Het
Otof C A 5: 30,370,743 V1924L probably damaging Het
Pdhb T C 14: 8,171,442 Q62R probably benign Het
Plbd1 A G 6: 136,651,905 V55A probably benign Het
Poteg T A 8: 27,447,824 F3I possibly damaging Het
Rptor A G 11: 119,843,743 D46G probably damaging Het
Slc18a1 C T 8: 69,075,033 probably null Het
Slc37a1 A G 17: 31,315,594 N80S probably benign Het
Slc6a18 T A 13: 73,677,879 R17S probably damaging Het
Spata31d1a A G 13: 59,702,368 S649P probably benign Het
Syngr3 G T 17: 24,687,560 Q94K possibly damaging Het
Tgm2 C A 2: 158,124,154 E527* probably null Het
Tnc T A 4: 63,962,082 T1952S probably damaging Het
Ubqln3 C T 7: 104,141,386 R499Q probably benign Het
Uck1 A G 2: 32,256,193 V230A possibly damaging Het
Unc13d G A 11: 116,068,074 R754C probably benign Het
Zfp708 C T 13: 67,074,098 A73T probably benign Het
Other mutations in 9130401M01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:9130401M01Rik UTSW 15 58025369 missense probably damaging 0.96
R0318:9130401M01Rik UTSW 15 58028974 missense probably damaging 0.96
R0322:9130401M01Rik UTSW 15 58025372 missense possibly damaging 0.90
R0365:9130401M01Rik UTSW 15 58028692 missense probably benign 0.00
R1432:9130401M01Rik UTSW 15 58028860 missense probably damaging 1.00
R3195:9130401M01Rik UTSW 15 58028736 missense probably benign 0.31
R3196:9130401M01Rik UTSW 15 58028736 missense probably benign 0.31
R6439:9130401M01Rik UTSW 15 58032048 missense probably null 0.92
R6953:9130401M01Rik UTSW 15 58028827 missense probably damaging 0.99
R7724:9130401M01Rik UTSW 15 58022461 missense probably benign 0.03
R7739:9130401M01Rik UTSW 15 58022479 missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AGCACAGCCTCTGCATTTACATTCC -3'
(R):5'- TCTCCTCGTGCTGATACAGGCTATG -3'

Sequencing Primer
(F):5'- CTGCATTTACATTCCCAACAGG -3'
(R):5'- CTATGGGGGAAGACATTGTCC -3'
Posted On2014-01-05