Incidental Mutation 'IGL01401:Gm20721'
ID79631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20721
Ensembl Gene ENSMUSG00000090625
Gene Namepredicted gene, 20721
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01401
Quality Score
Status
Chromosome2
Chromosomal Location174330319-174346712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 174345502 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 999 (D999G)
Ref Sequence ENSEMBL: ENSMUSP00000140174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080493] [ENSMUST00000087871] [ENSMUST00000087876] [ENSMUST00000109084] [ENSMUST00000109085] [ENSMUST00000109087] [ENSMUST00000109088] [ENSMUST00000109096] [ENSMUST00000130940] [ENSMUST00000168292] [ENSMUST00000185956] [ENSMUST00000186907]
Predicted Effect probably damaging
Transcript: ENSMUST00000080493
AA Change: D999G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079341
Gene: ENSMUSG00000027523
AA Change: D999G

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 3.02e-8 PROSPERO
internal_repeat_1 209 276 3.02e-8 PROSPERO
low complexity region 350 365 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 576 626 N/A INTRINSIC
low complexity region 633 643 N/A INTRINSIC
low complexity region 659 678 N/A INTRINSIC
low complexity region 685 696 N/A INTRINSIC
G_alpha 759 1132 5.01e-185 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087871
AA Change: D260G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085179
Gene: ENSMUSG00000027523
AA Change: D260G

DomainStartEndE-ValueType
G_alpha 20 393 1.27e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087876
AA Change: D985G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085184
Gene: ENSMUSG00000027523
AA Change: D985G

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 2.42e-8 PROSPERO
internal_repeat_1 209 276 2.42e-8 PROSPERO
low complexity region 350 365 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 576 626 N/A INTRINSIC
low complexity region 633 643 N/A INTRINSIC
low complexity region 659 678 N/A INTRINSIC
low complexity region 685 696 N/A INTRINSIC
G_alpha 759 1118 8.32e-191 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109084
AA Change: D245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104712
Gene: ENSMUSG00000027523
AA Change: D245G

DomainStartEndE-ValueType
G_alpha 20 378 1.23e-193 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109085
AA Change: D246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104713
Gene: ENSMUSG00000027523
AA Change: D246G

DomainStartEndE-ValueType
G_alpha 20 379 1.97e-192 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109087
AA Change: D260G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104715
Gene: ENSMUSG00000027523
AA Change: D260G

DomainStartEndE-ValueType
G_alpha 20 393 1.27e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109088
SMART Domains Protein: ENSMUSP00000104716
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 192 209 N/A INTRINSIC
low complexity region 336 352 N/A INTRINSIC
low complexity region 402 415 N/A INTRINSIC
low complexity region 421 446 N/A INTRINSIC
low complexity region 459 481 N/A INTRINSIC
low complexity region 493 510 N/A INTRINSIC
low complexity region 529 599 N/A INTRINSIC
low complexity region 643 658 N/A INTRINSIC
low complexity region 700 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109096
SMART Domains Protein: ENSMUSP00000104724
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 253 1.2e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129534
Predicted Effect probably benign
Transcript: ENSMUST00000130940
SMART Domains Protein: ENSMUSP00000118210
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 59 1.6e-30 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168292
AA Change: V128A
SMART Domains Protein: ENSMUSP00000127452
Gene: ENSMUSG00000090625
AA Change: V128A

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
low complexity region 148 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154658
Predicted Effect probably damaging
Transcript: ENSMUST00000185956
AA Change: D999G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140174
Gene: ENSMUSG00000027523
AA Change: D999G

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 3.02e-8 PROSPERO
internal_repeat_1 209 276 3.02e-8 PROSPERO
low complexity region 350 365 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 576 626 N/A INTRINSIC
low complexity region 633 643 N/A INTRINSIC
low complexity region 659 678 N/A INTRINSIC
low complexity region 685 696 N/A INTRINSIC
G_alpha 759 1132 5.01e-185 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148640
Predicted Effect probably benign
Transcript: ENSMUST00000186907
SMART Domains Protein: ENSMUSP00000139839
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 192 209 N/A INTRINSIC
low complexity region 336 352 N/A INTRINSIC
low complexity region 402 415 N/A INTRINSIC
low complexity region 421 446 N/A INTRINSIC
low complexity region 459 481 N/A INTRINSIC
low complexity region 493 510 N/A INTRINSIC
low complexity region 529 599 N/A INTRINSIC
low complexity region 643 658 N/A INTRINSIC
low complexity region 700 716 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik A G 6: 149,326,896 E480G probably damaging Het
4932438A13Rik A G 3: 36,942,292 N1051S probably benign Het
Adgrl3 T C 5: 81,688,669 V758A possibly damaging Het
Arf4 T C 14: 26,638,454 L12P probably damaging Het
C4bp A T 1: 130,648,064 V230E possibly damaging Het
Carm1 T A 9: 21,569,582 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Ceacam16 T C 7: 19,861,129 Y8C probably benign Het
Ckap2l A T 2: 129,269,216 V687E probably damaging Het
Dcaf4 A G 12: 83,541,374 D449G probably damaging Het
Dhx38 T C 8: 109,552,114 Y1113C probably benign Het
Fry A G 5: 150,438,788 I161V probably benign Het
Gm17093 A C 14: 44,521,527 M169L unknown Het
Grin2b T C 6: 135,736,363 H840R probably damaging Het
Hoxc12 C A 15: 102,937,320 H156Q probably benign Het
Htr3b T C 9: 48,947,634 D68G probably damaging Het
Inpp5b T C 4: 124,746,087 V99A probably damaging Het
Klhl42 C T 6: 147,107,743 T360M probably benign Het
Lmo7 C T 14: 101,794,277 R36* probably null Het
Lmod3 T G 6: 97,252,552 N7T probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mthfd2l T A 5: 91,000,566 I284K possibly damaging Het
Myo1e T A 9: 70,327,166 I267N probably damaging Het
Olfr1393 T A 11: 49,280,487 V113E possibly damaging Het
Olfr159 T C 4: 43,770,112 R300G probably damaging Het
Prkce T C 17: 86,168,840 V83A probably damaging Het
Pxdn G T 12: 30,001,984 C540F probably damaging Het
Ryr2 T A 13: 11,591,352 E4448V possibly damaging Het
Scn1a A T 2: 66,289,111 N1349K probably damaging Het
Smarcc1 T C 9: 110,149,965 I172T possibly damaging Het
Syt16 T C 12: 74,222,663 V92A possibly damaging Het
Tenm4 A G 7: 96,874,267 Y1672C probably damaging Het
Tmem131 A G 1: 36,799,387 Y1486H probably damaging Het
Tmem132a A G 19: 10,861,524 probably benign Het
Usp40 A T 1: 87,994,198 D314E probably damaging Het
Vmn2r79 G A 7: 87,037,273 V621I probably benign Het
Wnk4 A G 11: 101,276,683 probably benign Het
Wwc1 C A 11: 35,898,618 probably null Het
Other mutations in Gm20721
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm20721 APN 2 174345738 missense probably damaging 1.00
Posted On2013-11-05