Incidental Mutation 'IGL02988:Gm14325'
ID406830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14325
Ensembl Gene ENSMUSG00000095362
Gene Namepredicted gene 14325
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.276) question?
Stock #IGL02988 (G1)
Quality Score
Status
Chromosome2
Chromosomal Location177831791-177840336 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 177834249 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108939] [ENSMUST00000150650] [ENSMUST00000188914]
Predicted Effect probably null
Transcript: ENSMUST00000108939
SMART Domains Protein: ENSMUSP00000104567
Gene: ENSMUSG00000095362

DomainStartEndE-ValueType
KRAB 4 64 3.43e-13 SMART
ZnF_C2H2 78 97 1.61e2 SMART
ZnF_C2H2 103 125 4.17e-3 SMART
ZnF_C2H2 131 153 3.34e-2 SMART
ZnF_C2H2 159 181 5.29e-5 SMART
ZnF_C2H2 187 209 6.08e-5 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 243 265 8.02e-5 SMART
ZnF_C2H2 271 293 3.83e-2 SMART
ZnF_C2H2 299 321 5.14e-3 SMART
ZnF_C2H2 327 349 5.14e-3 SMART
ZnF_C2H2 355 377 5.99e-4 SMART
ZnF_C2H2 383 405 1.69e-3 SMART
ZnF_C2H2 411 433 7.37e-4 SMART
ZnF_C2H2 439 461 4.94e-5 SMART
ZnF_C2H2 467 489 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150650
AA Change: Y65D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118192
Gene: ENSMUSG00000095362
AA Change: Y65D

DomainStartEndE-ValueType
KRAB 4 64 3.43e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188914
SMART Domains Protein: ENSMUSP00000140685
Gene: ENSMUSG00000095362

DomainStartEndE-ValueType
KRAB 3 63 1.4e-15 SMART
ZnF_C2H2 77 96 6.8e-1 SMART
ZnF_C2H2 102 124 1.8e-5 SMART
ZnF_C2H2 130 152 1.4e-4 SMART
ZnF_C2H2 158 180 2.3e-7 SMART
ZnF_C2H2 186 208 2.5e-7 SMART
ZnF_C2H2 214 236 2.5e-6 SMART
ZnF_C2H2 242 264 3.3e-7 SMART
ZnF_C2H2 270 292 1.6e-4 SMART
ZnF_C2H2 298 320 2.1e-5 SMART
ZnF_C2H2 326 348 2.1e-5 SMART
ZnF_C2H2 354 376 2.5e-6 SMART
ZnF_C2H2 382 404 7.3e-6 SMART
ZnF_C2H2 410 432 3.1e-6 SMART
ZnF_C2H2 438 460 2e-7 SMART
ZnF_C2H2 466 488 4.6e-6 SMART
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110079O15Rik A G 1: 87,475,204 probably null Het
4933416I08Rik TCC TCCC X: 53,690,895 noncoding transcript Het
Adgrd1 G A 5: 129,144,010 A488T probably benign Het
AF529169 A G 9: 89,602,739 S202P probably benign Het
Ano3 T C 2: 110,775,010 S284G probably damaging Het
Aox2 G T 1: 58,337,350 V897L probably benign Het
Arl6 T A 16: 59,613,846 probably null Het
Blnk G A 19: 40,929,216 T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 T1221I probably benign Het
Cbll1 A T 12: 31,492,172 F63L possibly damaging Het
Cdk14 A G 5: 5,036,484 Y279H probably damaging Het
Cflar A T 1: 58,741,031 I265F possibly damaging Het
Cilp TGGG TGG 9: 65,280,130 probably null Het
Crb1 CG C 1: 139,237,086 probably null Het
Cyp3a13 A T 5: 137,899,010 Y347* probably null Het
Defa27 T C 8: 21,315,567 S8P probably damaging Het
Depdc5 A C 5: 32,956,167 probably null Het
Dlg5 A G 14: 24,166,255 F573S probably damaging Het
Fam20c A T 5: 138,755,994 E120V probably benign Het
Fam53a T C 5: 33,607,475 K296E probably damaging Het
Fcna G C 2: 25,630,681 probably benign Het
Fndc1 T C 17: 7,753,523 T1526A possibly damaging Het
Gm438 T A 4: 144,786,530 probably benign Het
Gm7582 G A 1: 85,041,867 noncoding transcript Het
Golga7b A C 19: 42,266,800 Y63S probably damaging Het
Hexb A G 13: 97,198,221 L14P unknown Het
Hsd17b3 A C 13: 64,089,100 L10R probably damaging Het
Il6st T C 13: 112,498,886 F611L probably damaging Het
Ints13 T A 6: 146,556,148 T411S possibly damaging Het
Kif18b C A 11: 102,908,320 C685F probably damaging Het
Kif5c A G 2: 49,619,717 N19S probably damaging Het
Lmbr1 G T 5: 29,292,223 probably null Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mrc2 G A 11: 105,325,571 R62Q probably benign Het
Myo1g T C 11: 6,508,183 probably benign Het
Myo5a A T 9: 75,130,141 probably benign Het
Nobox G A 6: 43,305,161 S326L possibly damaging Het
Nsl1 C A 1: 191,063,103 S22* probably null Het
Olfr1052 T C 2: 86,298,479 I221T probably damaging Het
Olfr1469 A C 19: 13,411,462 K298Q possibly damaging Het
Pdia3 T A 2: 121,429,556 L192Q probably damaging Het
Pkd2 A T 5: 104,503,605 R940* probably null Het
Plcd3 T A 11: 103,076,742 Q458L probably benign Het
Polm T A 11: 5,836,343 T75S probably benign Het
Pon3 T A 6: 5,232,330 D230V possibly damaging Het
Pxdn A T 12: 30,003,114 K917* probably null Het
Rad54l2 A G 9: 106,700,585 S1046P probably benign Het
Rb1cc1 T C 1: 6,247,811 probably null Het
Rnf215 A G 11: 4,136,785 E194G probably damaging Het
Rorb A T 19: 18,937,972 F441I probably damaging Het
Sel1l2 C A 2: 140,248,588 G378V probably damaging Het
Sema6a G T 18: 47,298,214 A139D probably damaging Het
Serpinb3d A T 1: 107,078,536 M274K probably benign Het
Siglec15 A C 18: 78,049,247 L32R probably damaging Het
Siglecg A T 7: 43,418,052 D681V probably damaging Het
Slc6a13 G T 6: 121,326,107 probably benign Het
Slc9b2 G T 3: 135,318,418 A77S probably benign Het
Slit3 T A 11: 35,708,063 V1498D probably damaging Het
Speer4c A C 5: 15,714,216 probably benign Het
Stxbp2 T C 8: 3,633,267 probably benign Het
Tbc1d9b T C 11: 50,151,946 S482P possibly damaging Het
Tec A G 5: 72,768,747 S321P possibly damaging Het
Tenm3 A G 8: 48,235,346 M2402T probably damaging Het
Thrap3 G A 4: 126,165,542 probably null Het
Tm4sf1 A T 3: 57,293,116 probably null Het
Tmcc1 T C 6: 116,042,928 E306G probably damaging Het
Traf3ip3 A T 1: 193,194,874 probably null Het
Utf1 C T 7: 139,943,962 P30L possibly damaging Het
Wdfy3 A T 5: 101,929,981 C880S probably damaging Het
Other mutations in Gm14325
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02130:Gm14325 APN 2 177834652 unclassified probably benign
IGL02731:Gm14325 APN 2 177832986 missense probably damaging 1.00
R4490:Gm14325 UTSW 2 177832983 missense possibly damaging 0.95
R5274:Gm14325 UTSW 2 177832984 missense possibly damaging 0.92
R5277:Gm14325 UTSW 2 177832984 missense possibly damaging 0.92
R5295:Gm14325 UTSW 2 177832984 missense possibly damaging 0.92
R5394:Gm14325 UTSW 2 177832984 missense possibly damaging 0.92
R5395:Gm14325 UTSW 2 177832984 missense possibly damaging 0.92
R6147:Gm14325 UTSW 2 177832807 missense probably damaging 1.00
R6855:Gm14325 UTSW 2 177832842 missense probably damaging 1.00
R7198:Gm14325 UTSW 2 177832005 missense probably benign 0.02
R7221:Gm14325 UTSW 2 177834610 missense probably damaging 1.00
R8206:Gm14325 UTSW 2 177832974 missense probably damaging 1.00
R8310:Gm14325 UTSW 2 177831799 missense probably damaging 1.00
R8370:Gm14325 UTSW 2 177832592 missense probably benign 0.03
Posted On2016-08-02