Incidental Mutation 'IGL00757:Gmnc'
ID11022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmnc
Ensembl Gene ENSMUSG00000068428
Gene Namegeminin coiled-coil domain containing
SynonymsLOC385639, Gm606, LOC239789
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00757
Quality Score
Status
Chromosome16
Chromosomal Location26913553-26991652 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 26963939 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 22 (D22A)
Ref Sequence ENSEMBL: ENSMUSP00000155982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089832] [ENSMUST00000231299] [ENSMUST00000231417] [ENSMUST00000231969]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089832
AA Change: D77A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: D77A

DomainStartEndE-ValueType
coiled coil region 89 124 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000231299
AA Change: D29A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000231417
AA Change: D22A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231969
AA Change: D71A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T G 7: 28,154,445 C1611W probably damaging Het
Acsbg1 A C 9: 54,622,719 I231R possibly damaging Het
Ahctf1 G A 1: 179,769,131 P94S probably damaging Het
Cldn34b3 T C X: 76,267,372 I182T possibly damaging Het
Cps1 T A 1: 67,152,380 probably benign Het
Cwf19l2 G T 9: 3,460,054 A781S probably damaging Het
Cyp4v3 T C 8: 45,320,615 I172M probably damaging Het
Gpr89 T A 3: 96,871,534 T408S probably benign Het
Grk2 A G 19: 4,289,311 probably null Het
Hrasls5 G T 19: 7,614,559 E113D possibly damaging Het
Kctd3 A G 1: 188,972,196 S793P probably damaging Het
Lhx1 A G 11: 84,519,652 F373S probably damaging Het
Mgl2 A T 11: 70,135,150 I71F probably damaging Het
Nbeal1 T A 1: 60,195,143 I91N possibly damaging Het
Otog T A 7: 46,290,128 D2110E probably damaging Het
Pde9a A G 17: 31,443,172 E90G probably benign Het
Prdm10 T C 9: 31,318,546 V86A possibly damaging Het
R3hdm1 T G 1: 128,236,439 I1030R probably damaging Het
Ryr2 T A 13: 11,618,604 probably null Het
Serpina1f A G 12: 103,693,462 I187T probably damaging Het
Slc22a16 C T 10: 40,581,327 T188M probably damaging Het
Spg11 T C 2: 122,070,959 H1500R probably benign Het
Sptlc2 C T 12: 87,369,068 E62K probably damaging Het
Tgfbr1 T A 4: 47,405,581 S326T probably damaging Het
Tgif1 A G 17: 70,846,240 Y39H probably damaging Het
Other mutations in Gmnc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Gmnc APN 16 26960319 nonsense probably null
IGL02600:Gmnc APN 16 26962891 splice site probably benign
R0465:Gmnc UTSW 16 26962952 missense probably damaging 0.98
R0925:Gmnc UTSW 16 26960423 missense probably benign 0.08
R1388:Gmnc UTSW 16 26963912 missense probably damaging 1.00
R1405:Gmnc UTSW 16 26960446 missense possibly damaging 0.86
R1405:Gmnc UTSW 16 26960446 missense possibly damaging 0.86
R1566:Gmnc UTSW 16 26963939 missense probably damaging 0.99
R1574:Gmnc UTSW 16 26963979 splice site probably benign
R1759:Gmnc UTSW 16 26965747 missense possibly damaging 0.82
R1880:Gmnc UTSW 16 26965611 missense probably damaging 1.00
R2151:Gmnc UTSW 16 26960706 missense possibly damaging 0.91
R3017:Gmnc UTSW 16 26960415 missense probably benign 0.00
R3437:Gmnc UTSW 16 26960467 missense probably benign 0.02
R5078:Gmnc UTSW 16 26965582 missense probably benign 0.13
R5225:Gmnc UTSW 16 26963945 missense probably benign 0.04
R5589:Gmnc UTSW 16 26962964 missense probably damaging 1.00
R6615:Gmnc UTSW 16 26960528 missense probably benign 0.14
R7078:Gmnc UTSW 16 26960522 missense probably benign
R7183:Gmnc UTSW 16 26960529 missense probably benign 0.08
R7284:Gmnc UTSW 16 26960792 missense probably benign 0.37
Posted On2012-12-06