Incidental Mutation 'R6615:Gmnc'
ID 523996
Institutional Source Beutler Lab
Gene Symbol Gmnc
Ensembl Gene ENSMUSG00000068428
Gene Name geminin coiled-coil domain containing
Synonyms Gm606, LOC239789, LOC385639
MMRRC Submission 044738-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6615 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 26775985-26810424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 26779278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 243 (D243A)
Ref Sequence ENSEMBL: ENSMUSP00000156070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089832] [ENSMUST00000231299] [ENSMUST00000231417] [ENSMUST00000231969]
AlphaFold Q3URY2
Predicted Effect probably benign
Transcript: ENSMUST00000089832
AA Change: D249A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: D249A

DomainStartEndE-ValueType
coiled coil region 89 124 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231299
AA Change: D201A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000231417
Predicted Effect probably benign
Transcript: ENSMUST00000231969
AA Change: D243A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.4%
Validation Efficiency 100% (51/51)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die within the first postnatal week exhibiting severe postnatal growth retardation and absence of respiratory motile cilia in tracheal epithelial cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Avl9 T C 6: 56,730,870 (GRCm39) V598A probably benign Het
Bcar3 T A 3: 122,220,282 (GRCm39) S60T probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Homo
Calm3 A G 7: 16,651,508 (GRCm39) probably null Het
Ccdc113 A C 8: 96,272,620 (GRCm39) E242D probably benign Het
Celsr1 C T 15: 85,786,315 (GRCm39) probably null Het
Clhc1 T A 11: 29,528,149 (GRCm39) M559K possibly damaging Het
Dhx36 T A 3: 62,396,338 (GRCm39) I440L probably benign Het
Dnah7c A T 1: 46,554,599 (GRCm39) T445S probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dsc2 T A 18: 20,165,576 (GRCm39) H843L possibly damaging Het
F11 T C 8: 45,701,811 (GRCm39) Y333C probably benign Het
Fbxo41 T C 6: 85,455,505 (GRCm39) T560A possibly damaging Het
Fbxo7 A T 10: 85,880,398 (GRCm39) H282L possibly damaging Het
Hdac5 C A 11: 102,087,882 (GRCm39) probably null Het
Krt87 A G 15: 101,334,443 (GRCm39) V188A probably benign Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrk1 A T 7: 65,931,396 (GRCm39) L55Q probably damaging Het
Ltbp2 C T 12: 84,860,091 (GRCm39) C621Y probably damaging Het
Marchf8 A G 6: 116,382,624 (GRCm39) E147G probably damaging Het
Muc16 T G 9: 18,558,484 (GRCm39) H2603P unknown Het
Nipa1 T A 7: 55,629,571 (GRCm39) N181Y probably damaging Het
Nt5el T A 13: 105,248,993 (GRCm39) N402K probably damaging Het
Or14c45 A G 7: 86,176,120 (GRCm39) T52A probably benign Het
Or2h2c G A 17: 37,422,494 (GRCm39) P127S probably damaging Het
Or4k37 A G 2: 111,159,457 (GRCm39) D231G probably benign Het
Or51f23c-ps1 T C 7: 102,430,994 (GRCm39) F104L probably damaging Het
Or7g35 A G 9: 19,496,285 (GRCm39) I151V probably benign Het
Pcf11 T A 7: 92,307,090 (GRCm39) Q1026L probably damaging Het
Ptch1 T G 13: 63,687,644 (GRCm39) K378T possibly damaging Het
Ptprm C T 17: 67,660,951 (GRCm39) probably null Het
Pxmp2 C A 5: 110,425,573 (GRCm39) W154L possibly damaging Het
Rdh7 T G 10: 127,720,491 (GRCm39) S294R probably damaging Het
Rexo1 C T 10: 80,379,848 (GRCm39) R994Q possibly damaging Het
Sacs A G 14: 61,446,383 (GRCm39) T2810A probably benign Het
Serpina3c A T 12: 104,117,980 (GRCm39) H119Q possibly damaging Het
Slc12a2 T G 18: 58,031,200 (GRCm39) I335R probably damaging Het
Slc25a13 C T 6: 6,073,454 (GRCm39) R468Q probably damaging Het
Slc5a6 C T 5: 31,194,174 (GRCm39) V628I probably benign Het
Srsf2 T C 11: 116,743,905 (GRCm39) probably null Het
Sugp2 A G 8: 70,695,420 (GRCm39) Q131R possibly damaging Het
Syne1 T C 10: 5,251,340 (GRCm39) R2525G probably damaging Het
Tars3 T C 7: 65,327,890 (GRCm39) F533S probably damaging Het
Tmem8b G T 4: 43,682,249 (GRCm39) G82W probably damaging Het
Unc13c A G 9: 73,837,890 (GRCm39) I987T possibly damaging Het
Usp44 T C 10: 93,682,351 (GRCm39) V267A possibly damaging Het
Wac C A 18: 7,868,884 (GRCm39) probably null Het
Xkr5 T C 8: 18,983,569 (GRCm39) I658V probably benign Het
Zbtb38 A T 9: 96,568,707 (GRCm39) Y792* probably null Het
Other mutations in Gmnc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Gmnc APN 16 26,782,689 (GRCm39) missense probably damaging 0.99
IGL01612:Gmnc APN 16 26,779,069 (GRCm39) nonsense probably null
IGL02600:Gmnc APN 16 26,781,641 (GRCm39) splice site probably benign
R0465:Gmnc UTSW 16 26,781,702 (GRCm39) missense probably damaging 0.98
R0925:Gmnc UTSW 16 26,779,173 (GRCm39) missense probably benign 0.08
R1388:Gmnc UTSW 16 26,782,662 (GRCm39) missense probably damaging 1.00
R1405:Gmnc UTSW 16 26,779,196 (GRCm39) missense possibly damaging 0.86
R1405:Gmnc UTSW 16 26,779,196 (GRCm39) missense possibly damaging 0.86
R1566:Gmnc UTSW 16 26,782,689 (GRCm39) missense probably damaging 0.99
R1574:Gmnc UTSW 16 26,782,729 (GRCm39) splice site probably benign
R1759:Gmnc UTSW 16 26,784,497 (GRCm39) missense possibly damaging 0.82
R1880:Gmnc UTSW 16 26,784,361 (GRCm39) missense probably damaging 1.00
R2151:Gmnc UTSW 16 26,779,456 (GRCm39) missense possibly damaging 0.91
R3017:Gmnc UTSW 16 26,779,165 (GRCm39) missense probably benign 0.00
R3437:Gmnc UTSW 16 26,779,217 (GRCm39) missense probably benign 0.02
R5078:Gmnc UTSW 16 26,784,332 (GRCm39) missense probably benign 0.13
R5225:Gmnc UTSW 16 26,782,695 (GRCm39) missense probably benign 0.04
R5589:Gmnc UTSW 16 26,781,714 (GRCm39) missense probably damaging 1.00
R7078:Gmnc UTSW 16 26,779,272 (GRCm39) missense probably benign
R7183:Gmnc UTSW 16 26,779,279 (GRCm39) missense probably benign 0.08
R7284:Gmnc UTSW 16 26,779,542 (GRCm39) missense probably benign 0.37
R8460:Gmnc UTSW 16 26,779,204 (GRCm39) missense probably benign 0.08
R9149:Gmnc UTSW 16 26,781,642 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACAAAGGCTTGTCCCTGGTG -3'
(R):5'- GAGTTTTCTAACTGTGAGGAACAACC -3'

Sequencing Primer
(F):5'- TCACATTACAGTGAGGGCTCAAAG -3'
(R):5'- GAACAACCTGGGCCCCATG -3'
Posted On 2018-06-22