Incidental Mutation 'IGL02422:AI661453'
ID292728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI661453
Ensembl Gene ENSMUSG00000034382
Gene Nameexpressed sequence AI661453
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.045) question?
Stock #IGL02422
Quality Score
Status
Chromosome17
Chromosomal Location47436615-47470638 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 47467092 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000150819]
Predicted Effect probably benign
Transcript: ENSMUST00000037701
SMART Domains Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 180 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150819
AA Change: A581V
SMART Domains Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: A581V

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 237 N/A INTRINSIC
low complexity region 294 312 N/A INTRINSIC
low complexity region 314 325 N/A INTRINSIC
low complexity region 354 364 N/A INTRINSIC
low complexity region 384 423 N/A INTRINSIC
low complexity region 429 444 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 612 627 N/A INTRINSIC
internal_repeat_1 628 654 6.24e-9 PROSPERO
low complexity region 656 671 N/A INTRINSIC
internal_repeat_1 688 714 6.24e-9 PROSPERO
low complexity region 853 863 N/A INTRINSIC
low complexity region 976 1016 N/A INTRINSIC
low complexity region 1147 1154 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in AI661453
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:AI661453 APN 17 47466623 intron probably benign
IGL01995:AI661453 APN 17 47468517 intron probably benign
IGL02171:AI661453 APN 17 47466996 intron probably benign
IGL02411:AI661453 APN 17 47467338 intron probably benign
IGL02609:AI661453 APN 17 47468372 intron probably benign
IGL02888:AI661453 APN 17 47467404 intron probably benign
IGL03024:AI661453 APN 17 47446588 missense probably damaging 1.00
R0077:AI661453 UTSW 17 47469362 intron probably benign
R0092:AI661453 UTSW 17 47467515 intron probably benign
R0144:AI661453 UTSW 17 47469299 intron probably benign
R0330:AI661453 UTSW 17 47446646 missense probably damaging 1.00
R0590:AI661453 UTSW 17 47467074 intron probably benign
R0839:AI661453 UTSW 17 47436827 missense probably null 0.97
R1350:AI661453 UTSW 17 47467928 nonsense probably null
R1436:AI661453 UTSW 17 47466702 intron probably benign
R1439:AI661453 UTSW 17 47466662 intron probably benign
R1643:AI661453 UTSW 17 47467866 intron probably benign
R1994:AI661453 UTSW 17 47467034 intron probably benign
R2145:AI661453 UTSW 17 47466098 intron probably benign
R2986:AI661453 UTSW 17 47466772 nonsense probably null
R4398:AI661453 UTSW 17 47468117 intron probably benign
R4809:AI661453 UTSW 17 47467187 intron probably benign
R4913:AI661453 UTSW 17 47468555 nonsense probably null
R4972:AI661453 UTSW 17 47466399 intron probably benign
R6430:AI661453 UTSW 17 47466797 intron probably benign
R6687:AI661453 UTSW 17 47467002 intron probably benign
Posted On2015-04-16