Incidental Mutation 'IGL02138:Higd2a'
ID 281439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Higd2a
Ensembl Gene ENSMUSG00000025868
Gene Name HIG1 domain family, member 2A
Synonyms 2010110M21Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # IGL02138
Quality Score
Status
Chromosome 13
Chromosomal Location 54738044-54738960 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 54738235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026986] [ENSMUST00000026987] [ENSMUST00000049575] [ENSMUST00000091609] [ENSMUST00000140142] [ENSMUST00000148222] [ENSMUST00000149462]
AlphaFold Q9CQJ1
Predicted Effect probably null
Transcript: ENSMUST00000026986
SMART Domains Protein: ENSMUSP00000026986
Gene: ENSMUSG00000025868

DomainStartEndE-ValueType
Pfam:HIG_1_N 45 96 5.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026987
SMART Domains Protein: ENSMUSP00000026987
Gene: ENSMUSG00000025869

DomainStartEndE-ValueType
Pfam:Nop16 4 157 7.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049575
SMART Domains Protein: ENSMUSP00000053371
Gene: ENSMUSG00000047547

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 228 2.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091609
SMART Domains Protein: ENSMUSP00000089198
Gene: ENSMUSG00000047547

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 210 8.7e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140142
SMART Domains Protein: ENSMUSP00000122336
Gene: ENSMUSG00000047547

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 95 2.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148222
SMART Domains Protein: ENSMUSP00000122180
Gene: ENSMUSG00000025869

DomainStartEndE-ValueType
Pfam:Nop16 5 88 9.9e-11 PFAM
Pfam:Nop16 67 156 1.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149462
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,384,672 (GRCm39) D431A possibly damaging Het
Adgrb1 T C 15: 74,401,631 (GRCm39) M209T probably damaging Het
Ano8 T C 8: 71,937,486 (GRCm39) H86R probably damaging Het
Camk1d G T 2: 5,449,895 (GRCm39) Y87* probably null Het
Capza3 A G 6: 139,987,872 (GRCm39) D157G probably benign Het
Ckmt2 A T 13: 92,009,947 (GRCm39) D124E probably benign Het
Col14a1 C A 15: 55,284,231 (GRCm39) Q831K unknown Het
Copb2 C T 9: 98,469,605 (GRCm39) P829S probably benign Het
Dlg5 A G 14: 24,208,419 (GRCm39) V929A probably benign Het
Dolk A G 2: 30,175,991 (GRCm39) V18A probably benign Het
Ecm2 G T 13: 49,676,304 (GRCm39) L340F probably damaging Het
Hacl1 A G 14: 31,352,940 (GRCm39) L149P probably benign Het
Hspa12a A T 19: 58,816,730 (GRCm39) S28R probably benign Het
Igkv5-37 A G 6: 69,940,435 (GRCm39) Y70H probably damaging Het
Iho1 G A 9: 108,283,820 (GRCm39) T208I probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Kif26a T C 12: 112,141,284 (GRCm39) S696P probably damaging Het
Kng1 A T 16: 22,886,558 (GRCm39) N168Y probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lepr A G 4: 101,625,264 (GRCm39) D473G probably damaging Het
Lipt1 G A 1: 37,914,867 (GRCm39) E308K possibly damaging Het
Luc7l3 A T 11: 94,194,792 (GRCm39) F76Y probably benign Het
Mapk1 A G 16: 16,841,316 (GRCm39) I163V probably benign Het
Matn3 A G 12: 9,017,638 (GRCm39) E430G possibly damaging Het
Med13 A T 11: 86,177,591 (GRCm39) S1502T probably damaging Het
Mlf1 A T 3: 67,307,046 (GRCm39) H237L probably benign Het
Mss51 A C 14: 20,534,923 (GRCm39) Y282* probably null Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or1p1c A T 11: 74,160,544 (GRCm39) M110L probably benign Het
Or7d11 A T 9: 19,966,196 (GRCm39) S188T probably benign Het
Phrf1 T A 7: 140,839,196 (GRCm39) probably benign Het
Ppme1 C T 7: 99,983,139 (GRCm39) M335I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sntg2 T A 12: 30,357,230 (GRCm39) probably null Het
Spryd3 T C 15: 102,027,354 (GRCm39) probably benign Het
Srpx A G X: 9,933,662 (GRCm39) probably null Het
St8sia1 G T 6: 142,909,504 (GRCm39) probably benign Het
Stab1 A G 14: 30,865,470 (GRCm39) probably null Het
Sycp2 A T 2: 178,000,047 (GRCm39) S976R probably benign Het
Sycp2 T A 2: 178,043,783 (GRCm39) K108* probably null Het
Tagap1 T C 17: 7,223,485 (GRCm39) T404A probably damaging Het
Tg C T 15: 66,589,082 (GRCm39) T21I probably benign Het
Tlr4 A T 4: 66,759,202 (GRCm39) Y665F probably damaging Het
Tmc8 T G 11: 117,682,081 (GRCm39) S525A probably benign Het
Tor4a A T 2: 25,084,810 (GRCm39) D364E probably benign Het
Trim44 T C 2: 102,211,253 (GRCm39) I236V probably benign Het
Ube2o A G 11: 116,434,226 (GRCm39) probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Xirp2 A T 2: 67,347,300 (GRCm39) R3180S probably benign Het
Zfp335 A G 2: 164,735,724 (GRCm39) C1077R probably damaging Het
Other mutations in Higd2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4002:Higd2a UTSW 13 54,738,540 (GRCm39) missense probably damaging 1.00
R9361:Higd2a UTSW 13 54,738,120 (GRCm39) missense probably benign
Posted On 2015-04-16