Incidental Mutation 'IGL01364:6430573F11Rik'
ID75880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 6430573F11Rik
Ensembl Gene ENSMUSG00000039620
Gene NameRIKEN cDNA 6430573F11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL01364
Quality Score
Status
Chromosome8
Chromosomal Location36457548-36516570 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36512347 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 368 (K368R)
Ref Sequence ENSEMBL: ENSMUSP00000119912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135373] [ENSMUST00000147525] [ENSMUST00000152039] [ENSMUST00000171777]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125492
Predicted Effect probably benign
Transcript: ENSMUST00000135373
SMART Domains Protein: ENSMUSP00000120524
Gene: ENSMUSG00000039620

DomainStartEndE-ValueType
Pfam:Methyltransf_11 49 114 7.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147525
AA Change: K368R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: K368R

DomainStartEndE-ValueType
Pfam:Methyltransf_8 4 158 3.6e-9 PFAM
Pfam:Ubie_methyltran 9 153 2.9e-7 PFAM
Pfam:Methyltransf_23 23 184 4.2e-12 PFAM
Pfam:Methyltransf_31 42 186 1.3e-10 PFAM
Pfam:Methyltransf_25 48 135 4.2e-9 PFAM
Pfam:Methyltransf_12 49 137 4.1e-11 PFAM
Pfam:Methyltransf_11 49 139 3.6e-18 PFAM
low complexity region 377 387 N/A INTRINSIC
low complexity region 410 430 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152039
SMART Domains Protein: ENSMUSP00000119288
Gene: ENSMUSG00000039620

DomainStartEndE-ValueType
Pfam:Methyltransf_11 49 109 2.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171777
AA Change: K368R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: K368R

DomainStartEndE-ValueType
Pfam:Methyltransf_8 4 158 3.6e-9 PFAM
Pfam:Ubie_methyltran 9 153 2.9e-7 PFAM
Pfam:Methyltransf_23 23 186 1.5e-11 PFAM
Pfam:Methyltransf_31 42 186 3.5e-10 PFAM
Pfam:Methyltransf_25 48 135 4.3e-9 PFAM
Pfam:Methyltransf_12 49 137 4.1e-11 PFAM
Pfam:Methyltransf_11 49 139 3.2e-18 PFAM
low complexity region 377 387 N/A INTRINSIC
low complexity region 410 430 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C A 4: 40,181,380 probably null Het
Acot6 T C 12: 84,101,066 V32A possibly damaging Het
Aff3 A T 1: 38,535,681 L73I probably damaging Het
Aldh1l2 C A 10: 83,492,667 D729Y probably damaging Het
Alox15 T C 11: 70,345,166 Q525R possibly damaging Het
Atr T C 9: 95,865,624 Y320H probably benign Het
Atxn3 C T 12: 101,934,423 probably benign Het
Caprin2 C A 6: 148,873,028 S262I probably benign Het
Ccar1 T C 10: 62,776,874 probably null Het
Ccdc14 T A 16: 34,723,213 L647H probably damaging Het
Cd300lf T C 11: 115,126,350 D49G probably benign Het
Csmd2 A G 4: 128,414,288 T1280A probably benign Het
Ddb1 T C 19: 10,627,660 probably null Het
Dnah9 A G 11: 66,155,459 Y88H probably damaging Het
Enpp1 T C 10: 24,664,614 T351A probably damaging Het
Evi2b T A 11: 79,516,623 Y42F probably benign Het
Fdps A T 3: 89,094,270 C274* probably null Het
Flnb A C 14: 7,934,562 probably null Het
Herc1 T A 9: 66,399,361 V917E probably benign Het
Hmcn2 C T 2: 31,361,814 Q854* probably null Het
Hmgxb3 T C 18: 61,146,434 Y769C probably damaging Het
Hps3 G T 3: 20,003,305 Q772K possibly damaging Het
Ifnab T C 4: 88,690,750 S160G probably damaging Het
Kalrn T C 16: 34,262,629 E652G probably damaging Het
Kat6a T C 8: 22,907,700 L255S probably damaging Het
Kbtbd7 T A 14: 79,428,046 D439E possibly damaging Het
Kcnn4 T C 7: 24,381,703 F289L probably benign Het
Mapk6 A C 9: 75,388,790 D475E possibly damaging Het
Msh5 A G 17: 35,028,769 V825A possibly damaging Het
Mst1 A G 9: 108,081,601 I111V probably benign Het
Myo1h T A 5: 114,348,439 I586N probably damaging Het
Olfr1280 G T 2: 111,315,670 A64S probably damaging Het
Panx1 C T 9: 15,021,465 V80M probably damaging Het
Polr3b T A 10: 84,695,669 I803N probably benign Het
Rasa4 T C 5: 136,095,571 V158A possibly damaging Het
Rbp3 T A 14: 33,954,188 M31K possibly damaging Het
Rpl3l A G 17: 24,732,430 K154E probably benign Het
Sec24a A T 11: 51,713,529 probably null Het
Sox5 C T 6: 144,116,472 M151I probably damaging Het
Sun1 T A 5: 139,234,741 L290Q probably damaging Het
Tm9sf2 T A 14: 122,143,460 I155N probably damaging Het
Tuft1 A G 3: 94,635,503 probably benign Het
Ubash3b A G 9: 41,018,015 probably null Het
Vwa1 A G 4: 155,770,743 probably null Het
Wnk1 T C 6: 119,937,411 E80G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in 6430573F11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:6430573F11Rik APN 8 36512299 missense possibly damaging 0.90
IGL01360:6430573F11Rik APN 8 36512559 missense probably benign 0.08
IGL03401:6430573F11Rik APN 8 36505669 missense probably damaging 1.00
Bear_market UTSW 8 36498483 critical splice donor site probably null
R2161:6430573F11Rik UTSW 8 36505650 missense probably damaging 1.00
R2230:6430573F11Rik UTSW 8 36512553 missense probably damaging 1.00
R2232:6430573F11Rik UTSW 8 36512553 missense probably damaging 1.00
R4250:6430573F11Rik UTSW 8 36512212 missense probably benign 0.05
R4432:6430573F11Rik UTSW 8 36498478 missense probably damaging 1.00
R4491:6430573F11Rik UTSW 8 36505606 missense probably damaging 1.00
R5242:6430573F11Rik UTSW 8 36511930 missense probably benign 0.02
R5261:6430573F11Rik UTSW 8 36511924 missense probably benign 0.07
R5482:6430573F11Rik UTSW 8 36512049 missense probably benign
R5579:6430573F11Rik UTSW 8 36512041 missense probably benign 0.00
R5594:6430573F11Rik UTSW 8 36512298 missense probably benign 0.00
R5797:6430573F11Rik UTSW 8 36498415 nonsense probably null
R6481:6430573F11Rik UTSW 8 36498483 critical splice donor site probably null
X0057:6430573F11Rik UTSW 8 36511988 nonsense probably null
X0065:6430573F11Rik UTSW 8 36511856 missense possibly damaging 0.71
Posted On2013-10-07