Incidental Mutation 'IGL01623:Gm28043'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28043
Ensembl Gene ENSMUSG00000098374
Gene Namepredicted gene, 28043
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01623
Quality Score
Chromosomal Location29614876-29703359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29676248 bp
Amino Acid Change Phenylalanine to Leucine at position 134 (F134L)
Ref Sequence ENSEMBL: ENSMUSP00000024816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000129864] [ENSMUST00000130423] [ENSMUST00000130871]
Predicted Effect probably benign
Transcript: ENSMUST00000024816
AA Change: F134L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: F134L

G_patch 84 130 1.93e-10 SMART
Pfam:FtsJ 231 448 9.5e-42 PFAM
SCOP:d1ckma2 625 718 4e-3 SMART
WW 752 785 2.05e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128410
Predicted Effect probably benign
Transcript: ENSMUST00000129864
SMART Domains Protein: ENSMUSP00000134356
Gene: ENSMUSG00000024019

PDB:4N4A|A 1 68 2e-40 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130052
Predicted Effect probably benign
Transcript: ENSMUST00000130423
Predicted Effect probably benign
Transcript: ENSMUST00000130871
AA Change: F574L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: F574L

FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
G_patch 524 570 1.93e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150388
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Rnf8 (ring finger protein 8) and Cmtr1 (cap methyltransferase 1) genes on chromosome 17. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Setx T C 2: 29,163,009 V2095A possibly damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in Gm28043
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Gm28043 APN 17 29691426 critical splice donor site probably null
IGL03118:Gm28043 APN 17 29634731 missense probably damaging 1.00
IGL03231:Gm28043 APN 17 29635942 missense probably damaging 1.00
Posted On2013-12-09