Incidental Mutation 'IGL02601:Gimap6'
ID300096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap6
Ensembl Gene ENSMUSG00000047867
Gene NameGTPase, IMAP family member 6
Synonyms4833419H03Rik, Ian6
Accession Numbers

Genbank: NM_153175; MGI: 1918876

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02601
Quality Score
Status
Chromosome6
Chromosomal Location48701582-48708225 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 48702475 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 209 (Q209L)
Ref Sequence ENSEMBL: ENSMUSP00000059371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053661] [ENSMUST00000119315] [ENSMUST00000126422]
Predicted Effect probably damaging
Transcript: ENSMUST00000053661
AA Change: Q209L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
AA Change: Q209L

DomainStartEndE-ValueType
low complexity region 66 71 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
Pfam:AIG1 104 303 7.7e-73 PFAM
Pfam:MMR_HSR1 105 226 2.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119315
SMART Domains Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867

DomainStartEndE-ValueType
low complexity region 66 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126422
SMART Domains Protein: ENSMUSP00000145325
Gene: ENSMUSG00000047867

DomainStartEndE-ValueType
low complexity region 66 71 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132725
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,307,786 V57M probably damaging Het
Agap3 A G 5: 24,483,371 K23E possibly damaging Het
Anln A T 9: 22,338,035 I132K probably damaging Het
Anxa4 T C 6: 86,760,701 T13A probably benign Het
Bdp1 A T 13: 100,098,514 Y191N possibly damaging Het
Carm1 G A 9: 21,586,908 V403M probably damaging Het
Cbx7 A G 15: 79,923,470 probably null Het
Chd8 A C 14: 52,214,300 N16K possibly damaging Het
Crtc3 A T 7: 80,592,567 D499E probably damaging Het
Cul3 A G 1: 80,271,715 probably benign Het
D430041D05Rik T C 2: 104,230,286 D1421G probably damaging Het
Fgb T A 3: 83,045,060 E167D probably benign Het
Gm3604 G A 13: 62,370,176 H123Y possibly damaging Het
Gm5884 A T 6: 128,645,786 noncoding transcript Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Obox3 T C 7: 15,626,923 E97G probably damaging Het
Obsl1 T C 1: 75,489,620 H1488R probably benign Het
Olfr1508 A T 14: 52,463,345 Y221* probably null Het
Olfr790 A G 10: 129,501,854 *323W probably null Het
Pak7 T A 2: 136,116,935 K78* probably null Het
Paqr9 A G 9: 95,560,824 N289S probably damaging Het
Pde3b G A 7: 114,523,342 R715H probably damaging Het
Pglyrp2 T C 17: 32,415,861 H509R probably benign Het
Pik3ap1 A C 19: 41,302,442 N550K probably benign Het
Pon3 A G 6: 5,221,671 Y320H probably damaging Het
Ptprt T A 2: 161,766,307 T690S probably benign Het
Ptprz1 T A 6: 23,000,687 D925E probably benign Het
Rag1 T C 2: 101,642,673 D708G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rbmy1b A G Y: 3,774,885 I27M probably benign Het
Rfx2 G A 17: 56,785,354 H315Y possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sis T C 3: 72,913,210 N1407S probably benign Het
Slco1c1 T A 6: 141,544,829 L261Q probably damaging Het
Sox30 T G 11: 45,984,762 L447R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssu72 A G 4: 155,705,425 N15S possibly damaging Het
Stat4 C T 1: 52,098,415 S455F probably damaging Het
Stk4 T A 2: 164,086,542 L97Q probably damaging Het
Sulf1 A T 1: 12,786,645 N40I probably damaging Het
Sympk G A 7: 19,048,869 V877I probably benign Het
Taar7b A T 10: 24,000,306 H123L probably damaging Het
Teddm1b A G 1: 153,874,616 Y57C probably damaging Het
Tep1 A T 14: 50,833,478 C2121* probably null Het
Tnfsf11 T A 14: 78,299,945 R93* probably null Het
Tspan12 A C 6: 21,835,379 probably benign Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Vps4a T C 8: 107,043,061 I334T probably damaging Het
Zfhx3 T C 8: 108,856,830 S1110P probably damaging Het
Zfp507 A G 7: 35,791,711 S716P probably damaging Het
Other mutations in Gimap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Gimap6 APN 6 48702421 missense possibly damaging 0.91
IGL00896:Gimap6 APN 6 48702460 missense probably benign 0.12
IGL02126:Gimap6 APN 6 48702701 missense probably damaging 1.00
IGL02450:Gimap6 APN 6 48704417 missense probably benign 0.07
IGL02493:Gimap6 APN 6 48702669 missense probably damaging 0.99
N/A:Gimap6 UTSW 6 48702415 missense probably damaging 0.99
PIT4515001:Gimap6 UTSW 6 48702568 missense probably benign 0.00
PIT4519001:Gimap6 UTSW 6 48708061 missense probably benign 0.06
R0066:Gimap6 UTSW 6 48702470 missense probably damaging 1.00
R0066:Gimap6 UTSW 6 48702470 missense probably damaging 1.00
R1594:Gimap6 UTSW 6 48702191 missense probably benign 0.06
R2233:Gimap6 UTSW 6 48704484 missense possibly damaging 0.92
R4982:Gimap6 UTSW 6 48707999 missense probably benign 0.03
R5664:Gimap6 UTSW 6 48702275 missense probably benign 0.01
R6235:Gimap6 UTSW 6 48702457 missense probably benign 0.00
R7469:Gimap6 UTSW 6 48702458 missense probably benign 0.00
Posted On2015-04-16