Incidental Mutation 'IGL02169:Gm21988'
ID 282817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21988
Ensembl Gene ENSMUSG00000040904
Gene Name predicted gene 21988
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02169
Quality Score
Status
Chromosome 11
Chromosomal Location 70126032-70130656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70129764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 25 (E25G)
Ref Sequence ENSEMBL: ENSMUSP00000135134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000021180] [ENSMUST00000021181] [ENSMUST00000040428] [ENSMUST00000100950] [ENSMUST00000176116] [ENSMUST00000141880] [ENSMUST00000125752] [ENSMUST00000108579] [ENSMUST00000108575] [ENSMUST00000108578] [ENSMUST00000108576] [ENSMUST00000108577] [ENSMUST00000102569] [ENSMUST00000176268]
AlphaFold Q8K3C0
Predicted Effect probably benign
Transcript: ENSMUST00000000329
SMART Domains Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320

DomainStartEndE-ValueType
LH2 2 111 9.78e-40 SMART
Pfam:Lipoxygenase 172 650 5.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021180
SMART Domains Protein: ENSMUSP00000021180
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
Blast:SANT 38 69 1e-16 BLAST
SCOP:d1ba5__ 41 59 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021181
SMART Domains Protein: ENSMUSP00000021181
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
SANT 38 83 7.29e-1 SMART
low complexity region 106 129 N/A INTRINSIC
low complexity region 135 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040428
AA Change: E52G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048271
Gene: ENSMUSG00000093989
AA Change: E52G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093601
Predicted Effect probably benign
Transcript: ENSMUST00000100950
SMART Domains Protein: ENSMUSP00000098510
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
SANT 37 82 7.29e-1 SMART
low complexity region 105 128 N/A INTRINSIC
low complexity region 134 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176116
AA Change: E25G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000135134
Gene: ENSMUSG00000040904
AA Change: E25G

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141880
AA Change: E25G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000135383
Gene: ENSMUSG00000093989
AA Change: E25G

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150504
Predicted Effect probably benign
Transcript: ENSMUST00000134700
SMART Domains Protein: ENSMUSP00000119483
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 43 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108579
SMART Domains Protein: ENSMUSP00000104220
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135390
SMART Domains Protein: ENSMUSP00000134994
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 29 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108575
SMART Domains Protein: ENSMUSP00000104215
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108578
SMART Domains Protein: ENSMUSP00000104219
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
SANT 38 83 7.29e-1 SMART
low complexity region 106 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108576
SMART Domains Protein: ENSMUSP00000104216
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
SANT 38 83 7.29e-1 SMART
low complexity region 106 129 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108577
SMART Domains Protein: ENSMUSP00000104218
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102569
SMART Domains Protein: ENSMUSP00000099629
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176268
AA Change: E52G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135088
Gene: ENSMUSG00000040904
AA Change: E52G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200557
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,843,408 (GRCm39) I1001F probably damaging Het
Amfr A T 8: 94,731,858 (GRCm39) probably null Het
Apol7c T G 15: 77,410,616 (GRCm39) D110A possibly damaging Het
Bcr A G 10: 74,995,714 (GRCm39) N899S probably benign Het
Ccnt2 T A 1: 127,702,126 (GRCm39) probably benign Het
Clptm1l G A 13: 73,759,782 (GRCm39) V281I probably damaging Het
Ctsr A G 13: 61,311,054 (GRCm39) probably benign Het
Dbh G A 2: 27,064,910 (GRCm39) V374M probably damaging Het
Eif3b A G 5: 140,415,836 (GRCm39) D385G possibly damaging Het
F830045P16Rik A G 2: 129,305,492 (GRCm39) V294A probably damaging Het
Foxj2 A G 6: 122,805,425 (GRCm39) N99S probably damaging Het
Gabrr1 T G 4: 33,160,261 (GRCm39) V315G probably damaging Het
Islr A T 9: 58,065,415 (GRCm39) F31I possibly damaging Het
L2hgdh A T 12: 69,768,171 (GRCm39) L109Q probably damaging Het
Lrp6 A G 6: 134,490,290 (GRCm39) I96T probably damaging Het
Nup93 A G 8: 95,028,757 (GRCm39) D330G probably damaging Het
Or2ag19 T A 7: 106,444,473 (GRCm39) Y218* probably null Het
Or8k33 T C 2: 86,384,226 (GRCm39) M81V probably benign Het
Phtf1 C A 3: 103,904,815 (GRCm39) L488I probably benign Het
Plac8l1 T C 18: 42,312,008 (GRCm39) D137G probably damaging Het
Pth1r G A 9: 110,553,503 (GRCm39) T392I probably damaging Het
Rab43 A G 6: 87,788,406 (GRCm39) F41L probably damaging Het
Ralgapb C T 2: 158,268,124 (GRCm39) L76F probably damaging Het
Ros1 A G 10: 51,958,053 (GRCm39) probably null Het
Rpl27a T C 7: 109,119,185 (GRCm39) I43T probably benign Het
Set G A 2: 29,959,536 (GRCm39) D129N possibly damaging Het
Sorbs2 A T 8: 46,276,786 (GRCm39) Y604F probably damaging Het
Tg T C 15: 66,629,792 (GRCm39) V491A probably benign Het
Txlna T C 4: 129,523,406 (GRCm39) T429A probably damaging Het
Vmn1r128 C T 7: 21,084,163 (GRCm39) P289L probably damaging Het
Wfs1 A G 5: 37,125,823 (GRCm39) F356S probably damaging Het
Zfp687 G A 3: 94,918,743 (GRCm39) T343I probably damaging Het
Zfp935 A G 13: 62,604,745 (GRCm39) probably null Het
Posted On 2015-04-16