Incidental Mutation 'IGL02450:Egfem1'
ID294148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egfem1
Ensembl Gene ENSMUSG00000063600
Gene NameEGF-like and EMI domain containing 1
Synonyms6130401L20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02450
Quality Score
Status
Chromosome3
Chromosomal Location29082023-29691209 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 29657268 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000118531] [ENSMUST00000119598]
Predicted Effect probably null
Transcript: ENSMUST00000118531
SMART Domains Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EMI 30 104 1.4e-15 PFAM
Blast:EGF_like 108 145 7e-10 BLAST
EGF 150 187 2.16e1 SMART
EGF_CA 188 228 2.66e-10 SMART
EGF 237 274 1.08e-1 SMART
EGF_like 275 313 9.19e-5 SMART
low complexity region 317 331 N/A INTRINSIC
low complexity region 357 371 N/A INTRINSIC
EGF 391 424 1.09e1 SMART
Blast:EGF_like 449 481 5e-10 BLAST
EGF 492 526 2.43e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119598
SMART Domains Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EMI 31 102 1.1e-15 PFAM
Blast:EGF_like 108 145 6e-10 BLAST
EGF_CA 164 204 1.61e-9 SMART
EGF 208 244 6.4e-4 SMART
EGF_CA 245 285 1.81e-12 SMART
EGF 294 331 1.08e-1 SMART
EGF_like 332 370 9.19e-5 SMART
low complexity region 374 388 N/A INTRINSIC
low complexity region 414 428 N/A INTRINSIC
EGF 448 481 1.09e1 SMART
Blast:EGF_like 506 538 5e-10 BLAST
EGF 549 583 2.43e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126420
Predicted Effect probably null
Transcript: ENSMUST00000140288
SMART Domains Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600

DomainStartEndE-ValueType
EGF_like 5 35 4.32e-1 SMART
EGF_CA 36 76 2.66e-10 SMART
EGF 85 122 1.08e-1 SMART
low complexity region 124 138 N/A INTRINSIC
low complexity region 164 178 N/A INTRINSIC
EGF 198 231 1.09e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bdnf G A 2: 109,723,604 V108I possibly damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Gimap6 T C 6: 48,704,417 I94M probably benign Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Jup C T 11: 100,378,357 C410Y probably damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Lsm1 C A 8: 25,793,778 L73I possibly damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Obox6 A G 7: 15,833,713 C270R probably damaging Het
Olfr525 A G 7: 140,323,227 H176R possibly damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Egfem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Egfem1 APN 3 29657153 missense possibly damaging 0.54
IGL02111:Egfem1 APN 3 29650896 splice site probably null
IGL02325:Egfem1 APN 3 29151917 missense probably benign 0.01
IGL02543:Egfem1 APN 3 29668380 missense probably benign 0.01
IGL02835:Egfem1 UTSW 3 29657241 missense probably damaging 1.00
P0033:Egfem1 UTSW 3 29690191 missense probably damaging 1.00
R0010:Egfem1 UTSW 3 29582919 missense probably damaging 1.00
R0294:Egfem1 UTSW 3 29690121 missense probably damaging 1.00
R0379:Egfem1 UTSW 3 29668250 missense possibly damaging 0.92
R1479:Egfem1 UTSW 3 29657165 missense probably damaging 1.00
R1572:Egfem1 UTSW 3 29648271 missense probably benign 0.02
R1754:Egfem1 UTSW 3 29668333 missense possibly damaging 0.68
R2568:Egfem1 UTSW 3 29582931 missense probably damaging 1.00
R2679:Egfem1 UTSW 3 29670676 missense probably benign 0.01
R3411:Egfem1 UTSW 3 29583021 missense probably damaging 1.00
R3801:Egfem1 UTSW 3 29151926 missense probably benign 0.14
R4049:Egfem1 UTSW 3 29686731 missense probably benign 0.01
R4851:Egfem1 UTSW 3 29151883 missense possibly damaging 0.92
R4917:Egfem1 UTSW 3 29151893 missense probably damaging 1.00
R4918:Egfem1 UTSW 3 29151893 missense probably damaging 1.00
R4969:Egfem1 UTSW 3 29582996 missense probably damaging 0.98
R4997:Egfem1 UTSW 3 29153590 missense probably benign 0.00
R5148:Egfem1 UTSW 3 29457823 intron probably benign
R5194:Egfem1 UTSW 3 29357196 critical splice donor site probably null
R5284:Egfem1 UTSW 3 29650787 missense possibly damaging 0.53
R5354:Egfem1 UTSW 3 29082212 critical splice donor site probably null
R5627:Egfem1 UTSW 3 29668399 nonsense probably null
R5677:Egfem1 UTSW 3 29690174 missense probably damaging 0.99
R5928:Egfem1 UTSW 3 29582928 missense possibly damaging 0.92
R5982:Egfem1 UTSW 3 29657270 splice site probably null
R6419:Egfem1 UTSW 3 29657249 missense probably damaging 1.00
R6475:Egfem1 UTSW 3 29657163 missense probably damaging 1.00
R6586:Egfem1 UTSW 3 29662411 nonsense probably null
R7046:Egfem1 UTSW 3 29082215 splice site probably null
R7079:Egfem1 UTSW 3 29153582 missense probably benign 0.00
R7308:Egfem1 UTSW 3 29151866 missense probably benign 0.09
R7362:Egfem1 UTSW 3 29151920 missense probably benign 0.01
R7684:Egfem1 UTSW 3 29690185 missense probably damaging 0.97
R7697:Egfem1 UTSW 3 29690197 critical splice donor site probably null
R7814:Egfem1 UTSW 3 29686791 missense probably damaging 1.00
R8226:Egfem1 UTSW 3 29657255 missense probably damaging 1.00
R8429:Egfem1 UTSW 3 29657268 critical splice donor site probably null
X0028:Egfem1 UTSW 3 29657146 missense probably damaging 1.00
Z1177:Egfem1 UTSW 3 29148453 missense probably benign 0.44
Posted On2015-04-16