Incidental Mutation 'IGL02943:Gm6401'
ID364613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6401
Ensembl Gene ENSMUSG00000095044
Gene Namepredicted gene 6401
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.238) question?
Stock #IGL02943
Quality Score
Status
Chromosome14
Chromosomal Location41962708-41967927 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 41966894 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 73 (E73K)
Ref Sequence ENSEMBL: ENSMUSP00000133168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064162] [ENSMUST00000164232] [ENSMUST00000168972]
Predicted Effect probably benign
Transcript: ENSMUST00000064162
SMART Domains Protein: ENSMUSP00000064211
Gene: ENSMUSG00000052334

DomainStartEndE-ValueType
Pfam:Takusan 10 93 3.7e-35 PFAM
coiled coil region 108 141 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163566
AA Change: E80K
SMART Domains Protein: ENSMUSP00000129907
Gene: ENSMUSG00000095044
AA Change: E80K

DomainStartEndE-ValueType
Pfam:Takusan 57 137 2.2e-26 PFAM
coiled coil region 164 186 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164232
AA Change: E73K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133168
Gene: ENSMUSG00000095044
AA Change: E73K

DomainStartEndE-ValueType
Pfam:Takusan 49 129 1.5e-26 PFAM
coiled coil region 157 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168972
SMART Domains Protein: ENSMUSP00000127922
Gene: ENSMUSG00000052334

DomainStartEndE-ValueType
Pfam:Takusan 10 93 8.6e-36 PFAM
coiled coil region 108 141 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,147,188 R1102G probably damaging Het
Akp3 T A 1: 87,126,369 Y236* probably null Het
Ankrd13c C T 3: 157,947,927 T134M probably damaging Het
Arhgef18 T C 8: 3,448,553 S529P probably damaging Het
Cdkl2 T A 5: 92,037,244 N96I possibly damaging Het
Cep57 A T 9: 13,818,853 probably benign Het
Chchd7 T C 4: 3,942,796 Y44H probably damaging Het
Ciart T C 3: 95,879,002 I254V possibly damaging Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Dlgap5 A G 14: 47,412,976 probably null Het
Ednra T A 8: 77,720,054 I132F probably damaging Het
En2 T C 5: 28,166,526 probably benign Het
Fsip2 C A 2: 82,992,357 Q6145K probably benign Het
Galnt5 A T 2: 57,999,768 D460V probably damaging Het
Gpr84 T C 15: 103,308,889 I254V probably benign Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Hyal6 T A 6: 24,743,439 V378E probably damaging Het
Il20rb G T 9: 100,466,252 H210N probably benign Het
Iqgap2 A G 13: 95,661,735 probably benign Het
Itga1 C T 13: 115,049,296 E57K possibly damaging Het
Jmjd1c T A 10: 67,219,654 D571E probably damaging Het
Kmt2c T C 5: 25,290,823 S623G probably damaging Het
L3mbtl2 T A 15: 81,686,255 S645T possibly damaging Het
Lrp2 A G 2: 69,455,510 V3779A possibly damaging Het
Lrpprc T C 17: 84,771,450 R279G probably benign Het
Lurap1l A G 4: 80,953,635 K122E probably damaging Het
Met T C 6: 17,535,929 Y785H possibly damaging Het
Myh3 T C 11: 67,091,065 F796L probably benign Het
Myo16 T C 8: 10,400,595 probably benign Het
Nedd4l T C 18: 65,161,652 probably null Het
Nlrp4c T C 7: 6,065,975 C292R probably damaging Het
Nmnat1 A G 4: 149,473,288 L99P probably damaging Het
Olfr340 A T 2: 36,453,039 L151F probably benign Het
Olfr488 A G 7: 108,255,416 F241L possibly damaging Het
Pclo T C 5: 14,669,221 V1124A unknown Het
Phf20l1 A G 15: 66,594,884 Y54C probably damaging Het
Postn T C 3: 54,377,608 probably null Het
Ppp2r1b A G 9: 50,883,585 D570G probably damaging Het
Prdm2 A C 4: 143,131,972 S1583A probably benign Het
Proser1 T C 3: 53,479,103 V802A probably damaging Het
Ptprc A T 1: 138,099,513 N532K probably damaging Het
Ptprk A G 10: 28,475,176 H555R possibly damaging Het
Ranbp6 T C 19: 29,812,124 D276G possibly damaging Het
Rasgrf2 A G 13: 91,983,633 V635A probably damaging Het
Rbm5 T C 9: 107,744,343 Y620C probably damaging Het
Sall1 C T 8: 89,031,121 R785H probably damaging Het
Slc22a2 G T 17: 12,610,061 L351F probably damaging Het
Sorcs3 A T 19: 48,759,938 Q782L probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r107 T A 6: 131,659,406 M227L probably damaging Het
Tecpr2 C T 12: 110,967,749 T1281I probably benign Het
Topbp1 T A 9: 103,328,440 V759E probably benign Het
Trim2 T C 3: 84,178,176 T504A probably benign Het
Trpc1 A G 9: 95,708,853 probably benign Het
Tssk4 T A 14: 55,651,566 V183E probably damaging Het
Vmn1r202 T C 13: 22,502,194 T18A probably benign Het
Vmn1r225 T C 17: 20,502,305 S3P possibly damaging Het
Vmn2r101 T A 17: 19,611,404 V554E probably damaging Het
Vps13a T C 19: 16,663,886 I2291V probably damaging Het
Vps39 A G 2: 120,339,487 S195P possibly damaging Het
Zfand4 T A 6: 116,273,876 probably benign Het
Other mutations in Gm6401
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Gm6401 APN 14 41966894 missense possibly damaging 0.89
IGL03031:Gm6401 APN 14 41966894 missense possibly damaging 0.89
IGL03091:Gm6401 APN 14 41964658 missense possibly damaging 0.78
R1710:Gm6401 UTSW 14 41966883 missense probably benign 0.04
R5048:Gm6401 UTSW 14 41967767 splice site probably null
R5106:Gm6401 UTSW 14 41965506 missense probably damaging 1.00
R6257:Gm6401 UTSW 14 41967871 missense probably benign
R6362:Gm6401 UTSW 14 41967770 missense probably benign 0.01
R6571:Gm6401 UTSW 14 41965495 missense probably damaging 0.99
R6599:Gm6401 UTSW 14 41966864 nonsense probably null
R6802:Gm6401 UTSW 14 41966917 missense probably damaging 0.98
R8237:Gm6401 UTSW 14 41965495 missense probably damaging 0.99
Posted On2015-12-18