Incidental Mutation 'R6137:2310057M21Rik'
ID488403
Institutional Source Beutler Lab
Gene Symbol 2310057M21Rik
Ensembl Gene ENSMUSG00000040177
Gene NameRIKEN cDNA 2310057M21 gene
Synonyms
MMRRC Submission 044284-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #R6137 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location131338220-131362759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 131357613 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 165 (H165Q)
Ref Sequence ENSEMBL: ENSMUSP00000050128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059438] [ENSMUST00000124096] [ENSMUST00000207305] [ENSMUST00000207354] [ENSMUST00000208526]
Predicted Effect probably damaging
Transcript: ENSMUST00000059438
AA Change: H165Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050128
Gene: ENSMUSG00000040177
AA Change: H165Q

DomainStartEndE-ValueType
Pfam:DUF4506 59 198 1.8e-60 PFAM
low complexity region 320 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207117
Predicted Effect probably benign
Transcript: ENSMUST00000207305
Predicted Effect possibly damaging
Transcript: ENSMUST00000207354
AA Change: H119Q

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208509
Predicted Effect probably benign
Transcript: ENSMUST00000208526
AA Change: H165Q

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.1860 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092M07Rik A T 19: 8,740,784 D6V probably damaging Het
Akap13 T A 7: 75,677,416 F721Y probably damaging Het
Akap6 A T 12: 53,140,354 D1517V probably damaging Het
Amigo3 T A 9: 108,053,728 S117T probably damaging Het
Atf7ip2 T A 16: 10,201,411 N34K probably damaging Het
Cacnb1 A C 11: 98,005,782 V351G probably damaging Het
Casp9 T A 4: 141,805,349 probably null Het
Ccdc51 C T 9: 109,089,415 T24I probably benign Het
Cdh23 T A 10: 60,434,512 Y618F probably damaging Het
Chd1 T A 17: 15,758,688 W1271R probably damaging Het
Dars T C 1: 128,368,439 T386A probably benign Het
Dchs1 T A 7: 105,765,106 D834V probably damaging Het
Dgkd T A 1: 87,936,381 V933E possibly damaging Het
Dnah17 A G 11: 118,025,654 F4203S probably damaging Het
Fancm T C 12: 65,130,382 L2000P probably damaging Het
Fbxo11 A T 17: 88,008,669 H444Q probably benign Het
Fbxw14 T A 9: 109,276,222 T292S probably damaging Het
Fer1l6 T C 15: 58,559,206 S237P probably damaging Het
Frem3 T C 8: 80,615,047 I1323T probably benign Het
Grin2a A G 16: 9,653,449 F652L probably benign Het
Grin2b T A 6: 135,923,458 M142L possibly damaging Het
Helz A G 11: 107,619,060 Q503R possibly damaging Het
Ighv5-17 A G 12: 113,859,295 Y69H probably benign Het
Il17ra A G 6: 120,475,582 N242S probably benign Het
Immp1l G C 2: 105,964,208 G117A probably damaging Het
Itm2c T C 1: 85,894,692 V10A probably benign Het
Kif1b T C 4: 149,238,426 K679E possibly damaging Het
Kng1 T C 16: 23,074,645 V256A possibly damaging Het
Lamc2 T G 1: 153,166,153 R78S possibly damaging Het
Loxl4 A G 19: 42,598,793 F621S probably damaging Het
Lpl T A 8: 68,892,747 D134E probably damaging Het
Lypd3 T C 7: 24,640,494 Y329H probably benign Het
Mettl13 T C 1: 162,535,886 D225G probably benign Het
Myo7b A G 18: 31,999,974 F441L probably damaging Het
Nnt T A 13: 119,336,328 M699L possibly damaging Het
Nr1h3 A T 2: 91,191,851 M144K probably damaging Het
Olfr1040 A G 2: 86,145,969 V255A probably benign Het
Olfr1347 T C 7: 6,488,845 T3A probably benign Het
Olfr325 A T 11: 58,581,068 M75L probably benign Het
Pappa2 A T 1: 158,871,543 Y667N probably damaging Het
Prps1l3 A G 12: 57,238,888 I155V probably benign Het
Ptgs2 T A 1: 150,100,993 N24K probably benign Het
Ralgds A T 2: 28,547,588 M514L probably damaging Het
Rbm47 G C 5: 66,026,283 R326G probably damaging Het
Sacm1l T A 9: 123,569,005 V254D probably damaging Het
Selenot A T 3: 58,585,284 Q64L probably damaging Het
Sgsm2 G A 11: 74,850,851 R1037W probably damaging Het
Slc22a12 A G 19: 6,542,724 V10A probably benign Het
Spem2 G T 11: 69,816,696 S481* probably null Het
Styk1 C T 6: 131,311,016 G128D probably damaging Het
Tmc6 A T 11: 117,776,328 L148Q probably damaging Het
Tmem138 A C 19: 10,574,835 probably null Het
Tnpo3 A G 6: 29,555,268 V772A probably benign Het
Topaz1 T C 9: 122,797,756 F1483S possibly damaging Het
Tuba4a C A 1: 75,216,055 C305F probably damaging Het
Ubap1 T G 4: 41,379,262 F159V possibly damaging Het
Vmn2r9 A G 5: 108,849,016 I129T probably benign Het
Wwc2 A T 8: 47,856,263 M828K unknown Het
Zfp236 A T 18: 82,671,794 S187T possibly damaging Het
Other mutations in 2310057M21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:2310057M21Rik APN 7 131357486 missense probably benign 0.13
R0600:2310057M21Rik UTSW 7 131357660 missense probably damaging 1.00
R0838:2310057M21Rik UTSW 7 131361806 missense probably damaging 0.97
R1703:2310057M21Rik UTSW 7 131343702 nonsense probably null
R2073:2310057M21Rik UTSW 7 131357513 missense probably benign 0.00
R2206:2310057M21Rik UTSW 7 131362602 missense probably benign 0.02
R4575:2310057M21Rik UTSW 7 131362596 missense probably benign 0.13
R4620:2310057M21Rik UTSW 7 131343606 nonsense probably null
R4704:2310057M21Rik UTSW 7 131357530 missense probably damaging 0.99
R4947:2310057M21Rik UTSW 7 131357614 missense probably damaging 1.00
R5512:2310057M21Rik UTSW 7 131350660 missense possibly damaging 0.90
R7227:2310057M21Rik UTSW 7 131350720 missense probably damaging 1.00
R7748:2310057M21Rik UTSW 7 131361792 missense probably benign 0.04
R7940:2310057M21Rik UTSW 7 131351038 missense probably benign
X0062:2310057M21Rik UTSW 7 131350682 missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CCCACCTCAGGGTTACTCAC -3'
(R):5'- GAAGTTAACTTATAGACTCTTGGATGC -3'

Sequencing Primer
(F):5'- AGGGTTACTCACTGAACCATCTC -3'
(R):5'- ATAGACTCTTGGATGCCCTGTC -3'
Posted On2017-10-10