Incidental Mutation 'R6643:Gm1043'
ID 525925
Institutional Source Beutler Lab
Gene Symbol Gm1043
Ensembl Gene ENSMUSG00000070823
Gene Name predicted gene 1043
Synonyms LOC381634
MMRRC Submission 044764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6643 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 37310473-37394287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37330895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 525 (I525T)
Ref Sequence ENSEMBL: ENSMUSP00000147157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207866] [ENSMUST00000208827] [ENSMUST00000232332]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000207619
Predicted Effect probably benign
Transcript: ENSMUST00000207866
AA Change: I525T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000208827
Predicted Effect probably benign
Transcript: ENSMUST00000232332
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,183,644 (GRCm39) S140P probably damaging Het
Atp5mc1 A C 11: 95,964,854 (GRCm39) C17W probably damaging Het
Brd4 A G 17: 32,417,470 (GRCm39) S161P unknown Het
Cntrob A G 11: 69,202,248 (GRCm39) V448A possibly damaging Het
Col22a1 T C 15: 71,693,886 (GRCm39) probably null Het
Col6a4 T C 9: 105,877,830 (GRCm39) Y2049C probably damaging Het
Cpn1 C T 19: 43,948,472 (GRCm39) D395N probably benign Het
Csmd2 A G 4: 128,266,390 (GRCm39) T769A probably benign Het
Cts6 T A 13: 61,349,607 (GRCm39) H62L probably damaging Het
Ddx42 G T 11: 106,119,646 (GRCm39) V144F probably benign Het
E130308A19Rik A G 4: 59,720,561 (GRCm39) S698G possibly damaging Het
Eif2b3 T C 4: 116,927,954 (GRCm39) L391P probably damaging Het
Kifc1 C T 17: 34,104,829 (GRCm39) G59S probably benign Het
Lancl1 T C 1: 67,043,542 (GRCm39) E360G probably benign Het
Lrp4 T C 2: 91,332,340 (GRCm39) L1679S probably benign Het
Mroh9 T A 1: 162,903,130 (GRCm39) D91V probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Ntsr1 T C 2: 180,142,719 (GRCm39) I170T probably damaging Het
Or2ag15 T A 7: 106,340,911 (GRCm39) I77F probably benign Het
Or2ag16 A G 7: 106,351,776 (GRCm39) I273T probably benign Het
Or6n2 T C 1: 173,897,611 (GRCm39) L249P probably damaging Het
Or6z5 G A 7: 6,477,720 (GRCm39) D204N probably benign Het
Pcolce T A 5: 137,607,165 (GRCm39) T109S probably damaging Het
Reg3b C A 6: 78,349,905 (GRCm39) S148R possibly damaging Het
Rps6ka4 A G 19: 6,809,731 (GRCm39) S365P probably damaging Het
Slc27a4 A G 2: 29,702,860 (GRCm39) E563G probably benign Het
Slc4a10 C T 2: 62,059,054 (GRCm39) T187M possibly damaging Het
Slc5a7 G T 17: 54,583,644 (GRCm39) Q549K probably benign Het
Stxbp3 A G 3: 108,701,150 (GRCm39) L573P probably damaging Het
Suco A T 1: 161,687,001 (GRCm39) S120T possibly damaging Het
Tnni2 G T 7: 141,998,016 (GRCm39) G163V probably damaging Het
Ttl T C 2: 128,923,262 (GRCm39) I201T possibly damaging Het
Vmn1r28 A G 6: 58,242,945 (GRCm39) T263A probably benign Het
Wdr1 A T 5: 38,697,521 (GRCm39) D262E probably damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Zdbf2 A G 1: 63,343,667 (GRCm39) E682G possibly damaging Het
Other mutations in Gm1043
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Gm1043 APN 5 37,344,433 (GRCm39) missense probably damaging 1.00
R0138:Gm1043 UTSW 5 37,350,317 (GRCm39) intron probably benign
R0724:Gm1043 UTSW 5 37,344,573 (GRCm39) missense probably damaging 1.00
R3917:Gm1043 UTSW 5 37,350,285 (GRCm39) intron probably benign
R5069:Gm1043 UTSW 5 37,344,580 (GRCm39) missense probably damaging 1.00
R5996:Gm1043 UTSW 5 37,317,168 (GRCm39) utr 3 prime probably benign
R6030:Gm1043 UTSW 5 37,311,952 (GRCm39) utr 3 prime probably benign
R6030:Gm1043 UTSW 5 37,311,952 (GRCm39) utr 3 prime probably benign
R6260:Gm1043 UTSW 5 37,331,816 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTTACCCACATCCATGCTCCAG -3'
(R):5'- GTCCAAGGACAGCTTCTCAC -3'

Sequencing Primer
(F):5'- ACATCCATGCTCCAGCTCTG -3'
(R):5'- AAGGACAGCTTCTCACTGTCTTG -3'
Posted On 2018-06-22