Incidental Mutation 'R4398:AI661453'
ID 325609
Institutional Source Beutler Lab
Gene Symbol AI661453
Ensembl Gene ENSMUSG00000034382
Gene Name expressed sequence AI661453
Synonyms
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 47747564-47781563 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 47779042 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: A923T
SMART Domains Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: A923T

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign 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
R0144:AI661453 UTSW 17 47,780,224 (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
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'- AGCCAGCTGATCAACTCCTC -3'
(R):5'- GATCGTTGCTGAACTCTGGC -3'

Sequencing Primer
(F):5'- TCCTTGCAGCCAGACAGAG -3'
(R):5'- GGAATGATATCAAAGCTGAACTCCTC -3'
Posted On 2015-07-06