Incidental Mutation 'R1395:2900026A02Rik'
ID162793
Institutional Source Beutler Lab
Gene Symbol 2900026A02Rik
Ensembl Gene ENSMUSG00000051339
Gene NameRIKEN cDNA 2900026A02 gene
SynonymsLOC231620, Gm449
MMRRC Submission 039457-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R1395 (G1)
Quality Score191
Status Validated
Chromosome5
Chromosomal Location113086323-113221236 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113101496 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 122 (Y122H)
Ref Sequence ENSEMBL: ENSMUSP00000148442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050125] [ENSMUST00000211733] [ENSMUST00000212276]
Predicted Effect probably damaging
Transcript: ENSMUST00000050125
AA Change: Y45H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058789
Gene: ENSMUSG00000051339
AA Change: Y45H

DomainStartEndE-ValueType
low complexity region 62 71 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
Tankyrase_bdg_C 130 299 5.69e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197597
Predicted Effect probably damaging
Transcript: ENSMUST00000211733
AA Change: Y1504H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212276
AA Change: Y122H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.204 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik T A 7: 29,531,387 noncoding transcript Het
A330070K13Rik A G 5: 130,379,141 probably benign Het
Abcc2 A G 19: 43,833,940 R1406G probably benign Het
Adgrv1 G T 13: 81,386,788 T5786K probably benign Het
Ankrd27 T C 7: 35,615,869 F481S possibly damaging Het
Arhgap11a C T 2: 113,833,122 V939I probably benign Het
Arhgap12 T C 18: 6,037,058 N561S probably benign Het
Arhgef12 T C 9: 43,005,870 H391R probably damaging Het
Asb3 T C 11: 31,101,032 probably benign Het
C2cd5 T C 6: 143,061,738 probably benign Het
Ccdc85a T C 11: 28,583,412 K44R possibly damaging Het
Cep128 C T 12: 91,266,980 R438Q probably benign Het
Cep192 A G 18: 67,858,921 T1957A probably damaging Het
Col20a1 T A 2: 180,998,607 V519E probably damaging Het
Cylc2 A G 4: 51,228,366 K146E possibly damaging Het
Dst T C 1: 34,165,155 probably null Het
Eef1a1 C T 9: 78,479,018 V402I probably benign Het
Esyt3 T C 9: 99,316,782 probably benign Het
Extl3 A G 14: 65,077,496 V79A possibly damaging Het
Fat3 C T 9: 16,246,916 V1133I probably benign Het
Fcgbp A G 7: 28,093,379 H936R probably damaging Het
Fdxacb1 TAGAC T 9: 50,772,496 probably null Het
Fryl T C 5: 73,072,912 H1634R probably damaging Het
Gm44511 G A 6: 128,820,330 S32L possibly damaging Het
Gm597 T C 1: 28,776,809 E714G possibly damaging Het
Gm8374 G T 14: 7,364,174 N55K probably benign Het
Gria1 T A 11: 57,283,566 I558N probably damaging Het
Gse1 G T 8: 120,574,999 probably benign Het
Gtf3c3 C T 1: 54,417,778 A488T probably damaging Het
Hectd4 T C 5: 121,328,513 probably null Het
Herc1 T C 9: 66,439,181 I1943T probably benign Het
Ift172 T C 5: 31,285,238 probably benign Het
Ift81 G T 5: 122,568,923 D485E probably benign Het
Lactb T C 9: 66,971,379 probably benign Het
Map1a C T 2: 121,303,925 H1741Y probably benign Het
Map1lc3b T C 8: 121,596,720 Y110H probably benign Het
Mlh1 T C 9: 111,247,377 D304G probably damaging Het
Myo1f A G 17: 33,583,740 D386G probably damaging Het
Ncoa4 T A 14: 32,172,841 probably null Het
Neto1 T C 18: 86,398,019 probably benign Het
Nf1 T C 11: 79,535,983 V1741A possibly damaging Het
Nkain2 C A 10: 32,890,189 probably benign Het
Obsl1 T C 1: 75,492,665 S109G probably damaging Het
Olfr12 T A 1: 92,620,545 I213N probably benign Het
Olfr1347 T A 7: 6,488,362 T171S probably damaging Het
Olfr564 G A 7: 102,804,207 C243Y possibly damaging Het
Olfr615 T C 7: 103,561,119 L214P possibly damaging Het
Phlpp1 T C 1: 106,350,618 V920A possibly damaging Het
Prrxl1 C T 14: 32,608,369 P148S probably benign Het
Psen1 G A 12: 83,724,572 G209R probably damaging Het
Ralgapa2 T G 2: 146,388,500 K963N probably damaging Het
Rdh12 A G 12: 79,209,065 T9A probably benign Het
Rgma G T 7: 73,417,794 A360S probably benign Het
Sag G A 1: 87,828,441 V257I probably benign Het
Scaf1 T C 7: 45,008,297 E386G probably damaging Het
Slc4a10 A G 2: 62,313,286 E1055G probably benign Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Spata46 A G 1: 170,312,004 T191A probably benign Het
Tgm2 T A 2: 158,124,252 H494L probably benign Het
Tub C T 7: 109,020,954 R102* probably null Het
Ugt3a1 T G 15: 9,306,292 L176V possibly damaging Het
Vmn2r15 T A 5: 109,294,148 I140L probably benign Het
Wdr44 T G X: 23,796,059 C645G probably damaging Het
Zfp322a C T 13: 23,356,775 V266I probably benign Het
Zfp663 T C 2: 165,352,572 R576G probably damaging Het
Other mutations in 2900026A02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:2900026A02Rik APN 5 113101535 missense probably damaging 1.00
R1394:2900026A02Rik UTSW 5 113101496 missense probably damaging 1.00
R4329:2900026A02Rik UTSW 5 113095589 critical splice donor site probably null
R4766:2900026A02Rik UTSW 5 113097636 missense probably benign 0.01
R6124:2900026A02Rik UTSW 5 113183756 missense probably benign
R6336:2900026A02Rik UTSW 5 113183483 missense possibly damaging 0.88
R6365:2900026A02Rik UTSW 5 113182644 missense probably benign 0.00
R6575:2900026A02Rik UTSW 5 113182817 missense probably damaging 1.00
R6759:2900026A02Rik UTSW 5 113183826 missense probably benign 0.00
R7117:2900026A02Rik UTSW 5 113191384 missense probably benign 0.00
R7168:2900026A02Rik UTSW 5 113137793 missense probably damaging 0.96
R7339:2900026A02Rik UTSW 5 113183072 missense probably benign 0.09
R7450:2900026A02Rik UTSW 5 113184111 missense possibly damaging 0.78
R7458:2900026A02Rik UTSW 5 113190644 missense probably benign 0.05
R7525:2900026A02Rik UTSW 5 113183355 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGACTGTCCAGACTGCTTGCC -3'
(R):5'- TCTCCTTTGCGCTAACATGGGAAG -3'

Sequencing Primer
(F):5'- caaggcaggggaagcaag -3'
(R):5'- CTAACATGGGAAGCAGCGG -3'
Posted On2014-03-17