Incidental Mutation 'R3437:Gmnc'
ID267256
Institutional Source Beutler Lab
Gene Symbol Gmnc
Ensembl Gene ENSMUSG00000068428
Gene Namegeminin coiled-coil domain containing
SynonymsLOC385639, Gm606, LOC239789
MMRRC Submission 040655-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R3437 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location26913553-26991652 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 26960467 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 221 (H221Q)
Ref Sequence ENSEMBL: ENSMUSP00000156264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089832] [ENSMUST00000231299] [ENSMUST00000231417] [ENSMUST00000231969]
Predicted Effect probably benign
Transcript: ENSMUST00000089832
AA Change: H269Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: H269Q

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: H221Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000231417
Predicted Effect probably benign
Transcript: ENSMUST00000231969
AA Change: H263Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Meta Mutation Damage Score 0.134 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,639,294 probably null Het
Ambp T C 4: 63,149,484 E163G probably benign Het
Amy1 G A 3: 113,556,009 A504V probably damaging Het
Angptl3 A T 4: 99,033,303 K219N probably benign Het
Atp6v1g1 A G 4: 63,550,018 N86S probably benign Het
Avl9 T C 6: 56,736,627 V290A probably benign Het
Bad A G 19: 6,942,431 R37G probably benign Het
Bicra T C 7: 15,989,298 D98G possibly damaging Het
Col4a4 G A 1: 82,497,168 T650M unknown Het
Cyp11b2 T C 15: 74,855,449 R128G probably benign Het
Dst T C 1: 34,190,222 S1974P probably damaging Het
Fabp1 T C 6: 71,201,611 L24P probably benign Het
Flnb T C 14: 7,942,057 V2345A probably damaging Het
Homer1 T C 13: 93,366,421 probably benign Het
Kit A G 5: 75,645,905 D690G probably damaging Het
Lama2 C T 10: 27,001,235 E2652K probably benign Het
Mc3r C T 2: 172,249,668 T270I probably benign Het
Mrgpra3 A C 7: 47,589,566 L204W probably damaging Het
Mroh1 C T 15: 76,433,608 T839I possibly damaging Het
Naip2 T A 13: 100,154,911 H1173L probably benign Het
Olfr136 A G 17: 38,335,432 I92V probably damaging Het
Olfr312 A T 11: 58,831,324 M57L probably damaging Het
Optc T C 1: 133,897,879 D303G probably damaging Het
P4ha3 C T 7: 100,285,624 A31V possibly damaging Het
Plch2 A G 4: 154,991,013 probably null Het
Plpp2 A T 10: 79,527,813 probably null Het
Polq A T 16: 37,062,337 N1342I probably damaging Het
Pter T A 2: 13,000,994 L326H probably benign Het
Pwwp2a C T 11: 43,706,188 Q452* probably null Het
Slc8a2 T G 7: 16,158,885 V824G probably damaging Het
Slfn2 A T 11: 83,069,564 H123L probably benign Het
Tmem132e A G 11: 82,444,330 Y654C probably damaging Het
Trim14 C T 4: 46,523,739 V100I possibly damaging Het
Tro G A X: 150,646,256 probably benign Het
Uspl1 T A 5: 149,214,697 probably benign Het
Uty A G Y: 1,158,336 I522T probably benign Het
Vmn1r120 A C 7: 21,053,657 L43W probably damaging Het
Vmn2r16 A T 5: 109,330,496 D39V probably damaging Het
Washc4 T A 10: 83,570,002 I454N probably benign Het
Wdr66 A G 5: 123,254,372 probably benign Het
Wnt16 T C 6: 22,298,134 V333A probably damaging Het
Ylpm1 T C 12: 85,049,870 probably null Het
Zfy1 A T Y: 726,357 D469E possibly damaging Het
Other mutations in Gmnc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Gmnc APN 16 26963939 missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GAAAGGAGTCACTAGGTCTGC -3'
(R):5'- TCTACCAGCTAACTACAGTGCC -3'

Sequencing Primer
(F):5'- TGCTTAGGGACCCAGGTAAACTTC -3'
(R):5'- TACAGTGCCACCACCTCTCATC -3'
Posted On2015-02-18