Incidental Mutation 'R0144:AI661453'
ID 22540
Institutional Source Beutler Lab
Gene Symbol AI661453
Ensembl Gene ENSMUSG00000034382
Gene Name expressed sequence AI661453
Synonyms
MMRRC Submission 038429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0144 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 47747564-47781563 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 47780224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000150819]
AlphaFold no structure available at present
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: Y1176F
SMART Domains Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: Y1176F

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
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.0%
Validation Efficiency 100% (90/90)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,652,739 (GRCm39) probably null Het
Acp6 T A 3: 97,073,145 (GRCm39) probably benign Het
Aox1 A G 1: 58,109,233 (GRCm39) I674V probably benign Het
Armc2 A T 10: 41,823,883 (GRCm39) probably benign Het
Atp8b1 G C 18: 64,704,445 (GRCm39) probably benign Het
Baz2b A T 2: 59,737,839 (GRCm39) N1823K probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Brca1 A T 11: 101,416,947 (GRCm39) S396T probably damaging Het
Btnl6 G T 17: 34,732,994 (GRCm39) R290S probably benign Het
Casp8ap2 A G 4: 32,643,797 (GRCm39) R957G possibly damaging Het
Ccdc13 A G 9: 121,656,417 (GRCm39) L132P probably damaging Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Ceacam15 G T 7: 16,407,116 (GRCm39) H134N probably benign Het
Cep170 T C 1: 176,620,161 (GRCm39) I46V probably benign Het
Cfap57 T C 4: 118,441,902 (GRCm39) D722G probably damaging Het
Col11a1 A T 3: 113,907,243 (GRCm39) D628V unknown Het
Csmd1 A T 8: 16,441,838 (GRCm39) V342E probably benign Het
Dennd1a A G 2: 38,016,652 (GRCm39) V64A probably damaging Het
Dlec1 G T 9: 118,971,934 (GRCm39) G1345V probably benign Het
Dnah1 G A 14: 30,989,831 (GRCm39) probably benign Het
Dock5 C T 14: 68,023,735 (GRCm39) G1142D probably benign Het
Etv2 C A 7: 30,334,308 (GRCm39) A142S probably benign Het
Fam110c C A 12: 31,124,500 (GRCm39) T154K unknown Het
Fbxo17 C G 7: 28,434,765 (GRCm39) D183E probably damaging Het
Fbxo30 T A 10: 11,170,964 (GRCm39) W681R probably damaging Het
Fig4 A G 10: 41,134,045 (GRCm39) Y413H probably damaging Het
Gab1 A G 8: 81,511,830 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,510,411 (GRCm39) M1T probably null Het
H2-M10.6 G A 17: 37,123,133 (GRCm39) C22Y probably damaging Het
Igfn1 T C 1: 135,889,751 (GRCm39) D2432G probably damaging Het
Il13 T C 11: 53,524,003 (GRCm39) D60G possibly damaging Het
Iqgap1 A G 7: 80,401,668 (GRCm39) L479P probably damaging Het
Itpr2 T A 6: 146,228,653 (GRCm39) Q1314L probably damaging Het
Jrk C T 15: 74,578,005 (GRCm39) G427S probably benign Het
Kcnb1 T G 2: 166,946,467 (GRCm39) N794H probably damaging Het
Klhl8 A T 5: 104,015,804 (GRCm39) S361R probably benign Het
Krt87 T C 15: 101,336,542 (GRCm39) Y37C probably benign Het
Lbp A T 2: 158,161,630 (GRCm39) S231C probably damaging Het
Lpin2 A G 17: 71,532,071 (GRCm39) E142G probably damaging Het
Lrch4 G A 5: 137,636,805 (GRCm39) probably null Het
Lypd11 A G 7: 24,423,015 (GRCm39) V101A possibly damaging Het
Manea A G 4: 26,340,719 (GRCm39) M81T probably benign Het
Mcm3ap A G 10: 76,316,849 (GRCm39) T618A probably benign Het
Me3 A G 7: 89,389,080 (GRCm39) D128G probably damaging Het
Mix23 A T 16: 35,905,484 (GRCm39) N92I possibly damaging Het
Mug2 A G 6: 122,047,970 (GRCm39) probably benign Het
Myo9b A T 8: 71,798,687 (GRCm39) Q901L probably damaging Het
Nalcn T C 14: 123,608,948 (GRCm39) R640G probably damaging Het
Nalcn C T 14: 123,647,251 (GRCm39) probably benign Het
Ncor1 T C 11: 62,283,421 (GRCm39) N422S probably damaging Het
Nf1 T A 11: 79,437,953 (GRCm39) Y88N probably damaging Het
Nrxn3 G A 12: 89,315,162 (GRCm39) A358T probably damaging Het
Or52s1 A T 7: 102,861,747 (GRCm39) I216F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p62 T C 7: 107,771,178 (GRCm39) I258V probably benign Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pld5 T C 1: 175,798,107 (GRCm39) N431D probably benign Het
Prss28 G A 17: 25,528,424 (GRCm39) V16M probably damaging Het
Psmd2 T A 16: 20,480,975 (GRCm39) probably null Het
Ptpn21 A T 12: 98,654,868 (GRCm39) S700T probably benign Het
Rasa2 A T 9: 96,474,072 (GRCm39) V152D probably damaging Het
Reln G T 5: 22,153,447 (GRCm39) R2286S probably damaging Het
Rflnb G T 11: 75,915,789 (GRCm39) P102Q probably damaging Het
Rin2 G A 2: 145,718,559 (GRCm39) V680I probably damaging Het
Rnf213 A T 11: 119,370,426 (GRCm39) K4742* probably null Het
Rpp40 A T 13: 36,085,352 (GRCm39) S143T probably benign Het
Rps12 A G 10: 23,662,689 (GRCm39) I51T probably benign Het
Rsf1 T A 7: 97,285,614 (GRCm39) W109R probably damaging Het
Sipa1l2 C T 8: 126,176,615 (GRCm39) probably null Het
Tspan5 G T 3: 138,604,109 (GRCm39) V165L probably damaging Het
Uts2r T A 11: 121,052,291 (GRCm39) V385E probably benign Het
Vma21-ps T A 4: 52,497,231 (GRCm39) D5V possibly damaging Het
Vmn2r62 T A 7: 42,438,440 (GRCm39) N132I probably damaging Het
Zfp622 T C 15: 25,991,665 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,655,671 (GRCm39) K766R probably damaging Het
Other mutations in AI661453
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:AI661453 APN 17 47,777,548 (GRCm39) intron probably benign
IGL01995:AI661453 APN 17 47,779,442 (GRCm39) intron probably benign
IGL02171:AI661453 APN 17 47,777,921 (GRCm39) intron probably benign
IGL02411:AI661453 APN 17 47,778,263 (GRCm39) intron probably benign
IGL02422:AI661453 APN 17 47,778,017 (GRCm39) intron probably benign
IGL02609:AI661453 APN 17 47,779,297 (GRCm39) intron probably benign
IGL02888:AI661453 APN 17 47,778,329 (GRCm39) intron probably benign
IGL03024:AI661453 APN 17 47,757,513 (GRCm39) missense probably damaging 1.00
R0077:AI661453 UTSW 17 47,780,287 (GRCm39) intron probably benign
R0092:AI661453 UTSW 17 47,778,440 (GRCm39) intron probably benign
R0330:AI661453 UTSW 17 47,757,571 (GRCm39) missense probably damaging 1.00
R0590:AI661453 UTSW 17 47,777,999 (GRCm39) intron probably benign
R0839:AI661453 UTSW 17 47,747,752 (GRCm39) missense probably null 0.97
R1350:AI661453 UTSW 17 47,778,853 (GRCm39) nonsense probably null
R1436:AI661453 UTSW 17 47,777,627 (GRCm39) intron probably benign
R1439:AI661453 UTSW 17 47,777,587 (GRCm39) intron probably benign
R1643:AI661453 UTSW 17 47,778,791 (GRCm39) intron probably benign
R1994:AI661453 UTSW 17 47,777,959 (GRCm39) intron probably benign
R2145:AI661453 UTSW 17 47,777,023 (GRCm39) intron probably benign
R2986:AI661453 UTSW 17 47,777,697 (GRCm39) nonsense probably null
R4398:AI661453 UTSW 17 47,779,042 (GRCm39) intron probably benign
R4809:AI661453 UTSW 17 47,778,112 (GRCm39) intron probably benign
R4913:AI661453 UTSW 17 47,779,480 (GRCm39) nonsense probably null
R4972:AI661453 UTSW 17 47,777,324 (GRCm39) intron probably benign
R6430:AI661453 UTSW 17 47,777,722 (GRCm39) intron probably benign
R6687:AI661453 UTSW 17 47,777,927 (GRCm39) intron probably benign
R7494:AI661453 UTSW 17 47,779,105 (GRCm39) missense unknown
R7598:AI661453 UTSW 17 47,777,045 (GRCm39) missense unknown
R7635:AI661453 UTSW 17 47,778,676 (GRCm39) missense unknown
R7753:AI661453 UTSW 17 47,778,439 (GRCm39) nonsense probably null
R7920:AI661453 UTSW 17 47,779,331 (GRCm39) missense unknown
R7974:AI661453 UTSW 17 47,777,006 (GRCm39) missense unknown
R8022:AI661453 UTSW 17 47,777,161 (GRCm39) missense unknown
R8489:AI661453 UTSW 17 47,777,254 (GRCm39) intron probably benign
R8771:AI661453 UTSW 17 47,777,683 (GRCm39) missense unknown
R9316:AI661453 UTSW 17 47,747,832 (GRCm39) missense probably benign 0.05
R9596:AI661453 UTSW 17 47,780,411 (GRCm39) missense unknown
R9743:AI661453 UTSW 17 47,780,240 (GRCm39) missense unknown
R9766:AI661453 UTSW 17 47,757,570 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGCCACCGAGGTCAAGTTCAAG -3'
(R):5'- TTCCAGCACAATGGCTCTCAGC -3'

Sequencing Primer
(F):5'- TCGCCTGCGACTTACTAAGAG -3'
(R):5'- GTCTGAGCTGGGACCTATAATACC -3'
Posted On 2013-04-16