Incidental Mutation 'R9361:Higd2a'
ID 708721
Institutional Source Beutler Lab
Gene Symbol Higd2a
Ensembl Gene ENSMUSG00000025868
Gene Name HIG1 domain family, member 2A
Synonyms 2010110M21Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # R9361 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54738044-54738960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54738120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 14 (D14E)
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 benign
Transcript: ENSMUST00000026986
AA Change: D14E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026986
Gene: ENSMUSG00000025868
AA Change: D14E

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik C T 8: 121,361,060 (GRCm39) A12T unknown Het
Aasdh T A 5: 77,030,225 (GRCm39) T792S probably benign Het
Actl11 T A 9: 107,805,824 (GRCm39) L49Q probably damaging Het
Adcy3 G T 12: 4,259,366 (GRCm39) R881L possibly damaging Het
Alox15 T G 11: 70,241,679 (GRCm39) K67N probably damaging Het
Amotl1 C T 9: 14,504,677 (GRCm39) R177Q probably benign Het
Ankrd34c T A 9: 89,612,183 (GRCm39) I53F probably damaging Het
Atp8b5 T A 4: 43,369,658 (GRCm39) F932Y possibly damaging Het
Bckdk A G 7: 127,506,515 (GRCm39) M281V probably benign Het
Ccdc33 C T 9: 58,024,908 (GRCm39) C106Y possibly damaging Het
Celsr3 T A 9: 108,726,521 (GRCm39) I3250N probably damaging Het
Ces1g A T 8: 94,061,646 (GRCm39) probably null Het
Ces2b G A 8: 105,564,039 (GRCm39) probably null Het
Clspn A T 4: 126,479,654 (GRCm39) D1033V probably damaging Het
Cntln G T 4: 84,968,151 (GRCm39) R790I probably benign Het
Cspg4 T C 9: 56,803,877 (GRCm39) V1656A probably damaging Het
Dennd2b A G 7: 109,126,991 (GRCm39) S907P probably damaging Het
Dlgap1 A T 17: 71,068,259 (GRCm39) D610V probably damaging Het
Efcab3 C T 11: 104,896,524 (GRCm39) T4291I probably benign Het
Eya4 C A 10: 22,985,766 (GRCm39) G579W probably damaging Het
Fam83b T C 9: 76,400,076 (GRCm39) I342M probably benign Het
Fhdc1 A C 3: 84,356,140 (GRCm39) C435G probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Fras1 T G 5: 96,924,557 (GRCm39) L3666R probably damaging Het
Gm21560 T A 14: 6,218,262 (GRCm38) H72L possibly damaging Het
Gtsf2 C T 15: 103,348,066 (GRCm39) W148* probably null Het
Gucy2c T C 6: 136,714,429 (GRCm39) K466E possibly damaging Het
Hlcs C T 16: 93,939,799 (GRCm39) V513M probably benign Het
Ido1 T C 8: 25,079,601 (GRCm39) T148A probably benign Het
Ighv1-5 T A 12: 114,476,985 (GRCm39) T106S probably damaging Het
Igkv4-92 T C 6: 68,732,090 (GRCm39) T95A possibly damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Larp4b T G 13: 9,199,937 (GRCm39) F278V probably damaging Het
Lrch4 G A 5: 137,635,076 (GRCm39) R225H probably damaging Het
Mapkbp1 T C 2: 119,845,252 (GRCm39) Y378H probably benign Het
Nme9 T A 9: 99,341,775 (GRCm39) C42S probably damaging Het
Or2y10 A G 11: 49,455,303 (GRCm39) K185R probably damaging Het
Pdlim2 T G 14: 70,402,190 (GRCm39) T309P probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prodh C T 16: 17,898,834 (GRCm39) C207Y probably benign Het
Prom1 A T 5: 44,213,229 (GRCm39) L168Q probably damaging Het
Resf1 T G 6: 149,228,132 (GRCm39) S393A possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Shkbp1 T C 7: 27,051,492 (GRCm39) Q189R probably benign Het
Skint4 T C 4: 112,001,021 (GRCm39) L372S probably damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Specc1 A T 11: 62,037,144 (GRCm39) E699D probably benign Het
Speer1m C T 5: 11,970,646 (GRCm39) T105M Het
Syt6 C A 3: 103,482,679 (GRCm39) probably benign Het
Tent5b G T 4: 133,213,461 (GRCm39) A111S probably damaging Het
Tg A G 15: 66,557,246 (GRCm39) E969G possibly damaging Het
Tie1 A C 4: 118,336,829 (GRCm39) H632Q probably benign Het
Trappc12 A G 12: 28,796,417 (GRCm39) W372R probably damaging Het
Trav7d-4 T C 14: 53,007,606 (GRCm39) V33A probably damaging Het
Ugdh A T 5: 65,575,886 (GRCm39) N324K probably damaging Het
Vmn2r79 G T 7: 86,652,822 (GRCm39) probably null Het
Washc2 T C 6: 116,239,433 (GRCm39) *1335Q probably null Het
Yme1l1 C T 2: 23,081,063 (GRCm39) T445I possibly damaging Het
Zdhhc11 T C 13: 74,122,737 (GRCm39) C158R probably damaging Het
Zfp128 T C 7: 12,624,364 (GRCm39) L244P probably damaging Het
Zfp445 T A 9: 122,690,887 (GRCm39) I103F probably damaging Het
Zfp980 A T 4: 145,427,999 (GRCm39) T243S probably benign Het
Other mutations in Higd2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Higd2a APN 13 54,738,235 (GRCm39) splice site probably null
R4002:Higd2a UTSW 13 54,738,540 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTAGTTAGTGCCTCCACATTCAC -3'
(R):5'- AGGCTTACTTGATCCACCCC -3'

Sequencing Primer
(F):5'- GTGCCTCCACATTCACTTACTACAAC -3'
(R):5'- AGGCTTACTTGATCCACCCCTATTTC -3'
Posted On 2022-04-18