Incidental Mutation 'R1880:Gmnc'
ID 209071
Institutional Source Beutler Lab
Gene Symbol Gmnc
Ensembl Gene ENSMUSG00000068428
Gene Name geminin coiled-coil domain containing
Synonyms Gm606, LOC239789, LOC385639
MMRRC Submission 039901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1880 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 26775985-26810424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26784361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 48 (D48G)
Ref Sequence ENSEMBL: ENSMUSP00000156070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089832] [ENSMUST00000231299] [ENSMUST00000231417] [ENSMUST00000231969]
AlphaFold Q3URY2
Predicted Effect probably damaging
Transcript: ENSMUST00000089832
AA Change: D54G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: D54G

DomainStartEndE-ValueType
coiled coil region 89 124 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231299
Predicted Effect probably benign
Transcript: ENSMUST00000231417
Predicted Effect probably damaging
Transcript: ENSMUST00000231969
AA Change: D48G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.2%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,072,615 (GRCm39) D846G possibly damaging Het
Arhgef5 C A 6: 43,250,022 (GRCm39) Q258K possibly damaging Het
Atp10b G T 11: 43,150,259 (GRCm39) G1319V probably damaging Het
Axl T C 7: 25,473,973 (GRCm39) T315A probably damaging Het
Brd10 C A 19: 29,695,523 (GRCm39) L1323F probably benign Het
Btnl2 A G 17: 34,584,337 (GRCm39) E420G possibly damaging Het
Capn2 A G 1: 182,316,581 (GRCm39) W293R probably damaging Het
Cd209f A G 8: 4,155,464 (GRCm39) probably null Het
Cltc A G 11: 86,603,457 (GRCm39) Y790H probably damaging Het
Col1a1 A G 11: 94,841,394 (GRCm39) K1259R unknown Het
Dpysl3 A T 18: 43,462,939 (GRCm39) probably null Het
Dus4l T C 12: 31,690,869 (GRCm39) I261V probably benign Het
Ell3 T C 2: 121,270,792 (GRCm39) D247G probably benign Het
Erg G A 16: 95,178,168 (GRCm39) T246I probably benign Het
Eva1c T C 16: 90,694,303 (GRCm39) I196T possibly damaging Het
Fbxo43 T C 15: 36,162,661 (GRCm39) D182G probably benign Het
Frrs1 T C 3: 116,690,444 (GRCm39) probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gata4 G T 14: 63,442,144 (GRCm39) P20Q probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Habp2 A G 19: 56,306,260 (GRCm39) I481V possibly damaging Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Hnrnpul1 A G 7: 25,432,523 (GRCm39) V380A possibly damaging Het
Hspa2 G A 12: 76,452,694 (GRCm39) D463N possibly damaging Het
Itga11 A G 9: 62,585,231 (GRCm39) D2G probably benign Het
Kel G A 6: 41,664,479 (GRCm39) L653F possibly damaging Het
Lgr5 T C 10: 115,288,184 (GRCm39) Y748C probably damaging Het
Lpxn A G 19: 12,781,452 (GRCm39) K57E probably benign Het
Ltbp2 G T 12: 84,876,045 (GRCm39) H501N probably benign Het
Macf1 G A 4: 123,332,384 (GRCm39) A2419V probably damaging Het
Map3k12 A G 15: 102,410,499 (GRCm39) probably null Het
Megf8 G A 7: 25,034,285 (GRCm39) V668I possibly damaging Het
Mmp10 T C 9: 7,505,575 (GRCm39) S280P probably benign Het
Neb C A 2: 52,148,743 (GRCm39) M2601I probably damaging Het
Nsd1 T A 13: 55,361,606 (GRCm39) N191K probably damaging Het
Or2w1 A T 13: 21,317,802 (GRCm39) N286Y probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Or5w14 C A 2: 87,541,639 (GRCm39) G204C probably damaging Het
Or6c214 A G 10: 129,591,290 (GRCm39) F10L probably benign Het
Patj C T 4: 98,385,477 (GRCm39) P364S probably benign Het
Pex1 T C 5: 3,655,770 (GRCm39) V39A probably benign Het
Pira13 C T 7: 3,827,950 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,388,638 (GRCm39) I1332F probably benign Het
Polq T C 16: 36,906,954 (GRCm39) V2026A possibly damaging Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Ppp4r4 T A 12: 103,571,294 (GRCm39) Y678N possibly damaging Het
Rpf2 T C 10: 40,109,154 (GRCm39) D95G possibly damaging Het
Sema3c A T 5: 17,932,464 (GRCm39) K656* probably null Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Snap25 G A 2: 136,619,305 (GRCm39) V153M probably damaging Het
Snrnp70 T C 7: 45,026,786 (GRCm39) probably null Het
Tas2r144 C T 6: 42,193,004 (GRCm39) T248I probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Usp38 T C 8: 81,727,695 (GRCm39) E346G probably damaging Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r91 A T 7: 19,835,698 (GRCm39) S206C probably damaging Het
Vps36 T C 8: 22,703,578 (GRCm39) probably null Het
Wdfy3 T C 5: 102,065,301 (GRCm39) N1289S probably benign Het
Zfp759 T C 13: 67,287,276 (GRCm39) C276R probably damaging Het
Zkscan17 G A 11: 59,378,455 (GRCm39) Q243* 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
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
R6615:Gmnc UTSW 16 26,779,278 (GRCm39) missense probably benign 0.14
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'- TGATGAGTACAGAACACCCAG -3'
(R):5'- AGGCCTTAGGTAGTACAGGG -3'

Sequencing Primer
(F):5'- TGAGTACAGAACACCCAGATTTATC -3'
(R):5'- GCCTTAGGTAGTACAGGGTAACTC -3'
Posted On 2014-06-30