Incidental Mutation 'R3969:Commd9'
ID 310865
Institutional Source Beutler Lab
Gene Symbol Commd9
Ensembl Gene ENSMUSG00000027163
Gene Name COMM domain containing 9
Synonyms 1810029F08Rik
MMRRC Submission 040937-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3969 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 101716607-101731984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101727486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 93 (N93K)
Ref Sequence ENSEMBL: ENSMUSP00000028584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028584]
AlphaFold Q8K2Q0
Predicted Effect probably benign
Transcript: ENSMUST00000028584
AA Change: N93K

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028584
Gene: ENSMUSG00000027163
AA Change: N93K

DomainStartEndE-ValueType
Pfam:HCaRG 15 194 9e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156799
Meta Mutation Damage Score 0.1128 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,835,846 (GRCm39) K60E probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Camk2d G T 3: 126,590,608 (GRCm39) C273F possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Chia1 T G 3: 106,028,951 (GRCm39) probably null Het
Cpeb4 T C 11: 31,822,811 (GRCm39) I175T possibly damaging Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Faap100 A T 11: 120,269,531 (GRCm39) M1K probably null Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Fryl A T 5: 73,269,766 (GRCm39) S396R probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Habp2 A G 19: 56,300,133 (GRCm39) Y194C probably damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Irf5 A T 6: 29,536,781 (GRCm39) Q497H probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Lins1 C T 7: 66,357,946 (GRCm39) T27I probably benign Het
Ncstn A C 1: 171,897,576 (GRCm39) V439G probably damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Nol8 A T 13: 49,813,492 (GRCm39) K162* probably null Het
Or7g21 A G 9: 19,032,956 (GRCm39) E232G probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pole3 G T 4: 62,443,198 (GRCm39) N12K possibly damaging Het
Prl2a1 A G 13: 27,990,263 (GRCm39) S71G probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,738 (GRCm39) V496A probably benign Het
Slc26a1 A G 5: 108,821,818 (GRCm39) S24P probably benign Het
Tspoap1 A T 11: 87,653,272 (GRCm39) N113Y probably damaging Het
Usp17lc A T 7: 103,067,626 (GRCm39) H307L probably damaging Het
Vmn2r79 T C 7: 86,652,801 (GRCm39) W498R probably damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Wwc2 T C 8: 48,309,358 (GRCm39) D808G unknown Het
Ybx2 G A 11: 69,831,242 (GRCm39) R84Q probably damaging Het
Zfp462 C T 4: 55,012,402 (GRCm39) S308F probably damaging Het
Other mutations in Commd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Commd9 APN 2 101,725,501 (GRCm39) nonsense probably null
IGL02232:Commd9 APN 2 101,731,324 (GRCm39) missense probably benign 0.34
IGL03109:Commd9 APN 2 101,727,515 (GRCm39) missense probably benign
R1873:Commd9 UTSW 2 101,727,502 (GRCm39) missense probably benign 0.09
R1933:Commd9 UTSW 2 101,731,376 (GRCm39) missense probably damaging 1.00
R3826:Commd9 UTSW 2 101,727,486 (GRCm39) missense probably benign 0.18
R3828:Commd9 UTSW 2 101,727,486 (GRCm39) missense probably benign 0.18
R3829:Commd9 UTSW 2 101,727,486 (GRCm39) missense probably benign 0.18
R3968:Commd9 UTSW 2 101,727,486 (GRCm39) missense probably benign 0.18
R3970:Commd9 UTSW 2 101,727,486 (GRCm39) missense probably benign 0.18
R4059:Commd9 UTSW 2 101,725,499 (GRCm39) missense possibly damaging 0.93
R4795:Commd9 UTSW 2 101,729,241 (GRCm39) missense probably benign 0.00
R5289:Commd9 UTSW 2 101,729,239 (GRCm39) missense probably benign 0.00
R5426:Commd9 UTSW 2 101,729,220 (GRCm39) missense probably damaging 1.00
R5437:Commd9 UTSW 2 101,731,373 (GRCm39) missense probably damaging 1.00
R7209:Commd9 UTSW 2 101,725,483 (GRCm39) missense possibly damaging 0.94
R7425:Commd9 UTSW 2 101,730,245 (GRCm39) nonsense probably null
R7552:Commd9 UTSW 2 101,731,410 (GRCm39) missense probably damaging 1.00
R9615:Commd9 UTSW 2 101,727,436 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GTGAGTGTACAGAGCTCCAC -3'
(R):5'- GATGAACAGCTTTCCATTAAGGC -3'

Sequencing Primer
(F):5'- TGTACAGAGCTCCACCCCTG -3'
(R):5'- CCATTAAGGCAATTAAGCTCTGGGTG -3'
Posted On 2015-04-29