Incidental Mutation 'R5442:Commd4'
ID 427233
Institutional Source Beutler Lab
Gene Symbol Commd4
Ensembl Gene ENSMUSG00000032299
Gene Name COMM domain containing 4
Synonyms 1110039H05Rik
MMRRC Submission 043007-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # R5442 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 57062319-57065615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57064090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 37 (V37A)
Ref Sequence ENSEMBL: ENSMUSP00000069078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065358] [ENSMUST00000214097] [ENSMUST00000214174]
AlphaFold Q9CQ02
Predicted Effect possibly damaging
Transcript: ENSMUST00000065358
AA Change: V37A

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069078
Gene: ENSMUSG00000032299
AA Change: V37A

DomainStartEndE-ValueType
Pfam:HCaRG 21 197 5.9e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213161
Predicted Effect unknown
Transcript: ENSMUST00000213580
AA Change: V31A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214072
Predicted Effect probably benign
Transcript: ENSMUST00000214097
Predicted Effect probably benign
Transcript: ENSMUST00000214174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214212
Predicted Effect unknown
Transcript: ENSMUST00000217018
AA Change: V34A
Predicted Effect unknown
Transcript: ENSMUST00000215013
AA Change: V36A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215500
Predicted Effect probably benign
Transcript: ENSMUST00000214640
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,909,594 (GRCm39) M114T probably benign Het
Ablim3 A T 18: 61,990,296 (GRCm39) probably null Het
Adcy10 A G 1: 165,340,709 (GRCm39) D238G probably benign Het
Astn2 G T 4: 65,500,023 (GRCm39) S955R possibly damaging Het
Casc3 A G 11: 98,712,297 (GRCm39) E112G probably damaging Het
Cetn4 C T 3: 37,364,094 (GRCm39) V39I probably benign Het
Dyrk2 T C 10: 118,696,643 (GRCm39) Q205R possibly damaging Het
Gal3st4 A G 5: 138,264,042 (GRCm39) V319A possibly damaging Het
Inpp5d G A 1: 87,645,788 (GRCm39) A1058T probably benign Het
Lpin3 A G 2: 160,746,936 (GRCm39) Y781C probably damaging Het
Lrat C T 3: 82,810,527 (GRCm39) V165M probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Nlrp6 T C 7: 140,502,103 (GRCm39) S142P probably benign Het
Oas1a T C 5: 121,035,269 (GRCm39) T349A probably benign Het
Or52e8 A T 7: 104,624,435 (GRCm39) F252L possibly damaging Het
Or5m3b T C 2: 85,872,295 (GRCm39) V212A probably benign Het
Or5v1 A T 17: 37,810,330 (GRCm39) I263F probably damaging Het
Or8c20 T A 9: 38,261,158 (GRCm39) S260T probably benign Het
Pakap C A 4: 57,637,876 (GRCm39) P18Q probably null Het
Pcdha2 T C 18: 37,072,915 (GRCm39) V182A probably benign Het
Phactr3 A G 2: 177,784,254 (GRCm39) D26G probably benign Het
Phrf1 G A 7: 140,820,850 (GRCm39) R159H probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rab3ip T C 10: 116,754,753 (GRCm39) T268A probably benign Het
Rapgef3 T C 15: 97,656,742 (GRCm39) D299G probably damaging Het
Rem1 A G 2: 152,469,977 (GRCm39) probably null Het
Slc28a2b A G 2: 122,317,350 (GRCm39) N36S probably benign Het
Syne1 A G 10: 5,293,473 (GRCm39) M1286T probably benign Het
Thsd7a T C 6: 12,748,799 (GRCm39) T52A probably benign Het
Tmem135 A T 7: 88,793,872 (GRCm39) F390Y probably damaging Het
Trio T C 15: 27,856,280 (GRCm39) D696G probably benign Het
Ttll11 T C 2: 35,793,135 (GRCm39) *191W probably null Het
Ubr4 A G 4: 139,135,083 (GRCm39) D805G probably damaging Het
Usp9y A G Y: 1,336,467 (GRCm39) I1469T possibly damaging Het
Vmn1r70 G T 7: 10,367,877 (GRCm39) A122S possibly damaging Het
Vmn2r78 G T 7: 86,569,330 (GRCm39) L74F possibly damaging Het
Wdfy3 T C 5: 102,044,425 (GRCm39) E1860G probably benign Het
Other mutations in Commd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Commd4 APN 9 57,063,273 (GRCm39) splice site probably benign
R0720:Commd4 UTSW 9 57,062,718 (GRCm39) missense probably benign 0.00
R4972:Commd4 UTSW 9 57,062,732 (GRCm39) missense probably benign 0.00
R5696:Commd4 UTSW 9 57,063,499 (GRCm39) missense possibly damaging 0.77
Z1088:Commd4 UTSW 9 57,063,540 (GRCm39) missense probably benign 0.03
Z1177:Commd4 UTSW 9 57,064,415 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGTGCTAAGAATGGGCTGG -3'
(R):5'- AAGTGCACTGGTTTACTTAGGG -3'

Sequencing Primer
(F):5'- CTAAGAATGGGCTGGGGCTAG -3'
(R):5'- AGATTGGGACTGGGAGCTG -3'
Posted On 2016-09-01