Incidental Mutation 'R4885:Impact'
ID 375673
Institutional Source Beutler Lab
Gene Symbol Impact
Ensembl Gene ENSMUSG00000024423
Gene Name impact, RWD domain protein
Synonyms E430016J11Rik
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 13088909-13126007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 13119430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 214 (A214G)
Ref Sequence ENSEMBL: ENSMUSP00000025290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025290]
AlphaFold O55091
Predicted Effect probably damaging
Transcript: ENSMUST00000025290
AA Change: A214G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025290
Gene: ENSMUSG00000024423
AA Change: A214G

DomainStartEndE-ValueType
RWD 14 116 7.86e-29 SMART
low complexity region 126 139 N/A INTRINSIC
low complexity region 160 171 N/A INTRINSIC
Pfam:UPF0029 180 288 8.5e-36 PFAM
low complexity region 306 315 N/A INTRINSIC
Meta Mutation Damage Score 0.5182 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign Het
Other mutations in Impact
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Impact APN 18 13,109,076 (GRCm39) missense probably benign 0.00
IGL01960:Impact APN 18 13,107,815 (GRCm39) missense probably benign 0.13
R1056:Impact UTSW 18 13,109,581 (GRCm39) missense probably benign 0.14
R1552:Impact UTSW 18 13,117,337 (GRCm39) missense probably benign 0.25
R4111:Impact UTSW 18 13,109,090 (GRCm39) critical splice donor site probably null
R4734:Impact UTSW 18 13,118,346 (GRCm39) missense probably damaging 1.00
R5566:Impact UTSW 18 13,107,819 (GRCm39) missense probably damaging 0.98
R5601:Impact UTSW 18 13,109,064 (GRCm39) missense probably benign 0.44
R5966:Impact UTSW 18 13,123,601 (GRCm39) missense probably benign 0.00
R6974:Impact UTSW 18 13,115,169 (GRCm39) missense probably damaging 1.00
R7168:Impact UTSW 18 13,119,370 (GRCm39) splice site probably null
R8108:Impact UTSW 18 13,117,388 (GRCm39) missense probably benign 0.00
R8460:Impact UTSW 18 13,109,564 (GRCm39) missense probably benign 0.00
R8474:Impact UTSW 18 13,107,798 (GRCm39) missense probably damaging 1.00
R8897:Impact UTSW 18 13,123,551 (GRCm39) missense probably benign 0.10
Z1177:Impact UTSW 18 13,121,423 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTTTGCCCTACTACGGC -3'
(R):5'- CGTATCTAGTAGAGAACGCAGTGC -3'

Sequencing Primer
(F):5'- GCCCTACTACGGCACTTCAGAG -3'
(R):5'- AACGCAGTGCTCCTCCG -3'
Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R48850073_PCR_F: 5’- AAGGTTTGCCCTACTACGGC-3’

R48850073_PCR_R: 5’- CGTATCTAGTAGAGAACGCAGTGC-3’

Sequencing Primers

R48850073_SEQ_F: 5’- GCCCTACTACGGCACTTCAGAG-3’
 

R48850073_SEQ_R: 5’- AACGCAGTGCTCCTCCG-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 400 nucleotides is amplified (NCBI RefSeq: NC_000084, chromosome 18. Chr13:12986167-12986566):

  1 aaggtttgcc ctactacggc acttcagagc ttaataaatt cactaagtaa ctgttctgct       

 61 ataaatttat atcaaattgc tttaattcta cctttctagc atttacagag aaaataaaag      

121 gcatatttgt ttatttctat tactgctgtt tttgaaggtg aaactggttc ttgccaagct      

181 gtacgagaat aagaagattg ccagcgccac ccacaacatc tatgcctaca ggtgagtgac      

241 tgccaggttt tacaataggc aatttacaaa cagttgctgg gaagctatgc aggattttga      

301 gatatagctg cttttttatt acaacagtag acctgtgaag tatttgaaaa ctgcagagag      

361 tcaagtagcc ggaggagcac tgcgttctct actagatacg

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text.
Posted On 2016-03-17