Incidental Mutation 'IGL02530:Egflam'
ID297277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egflam
Ensembl Gene ENSMUSG00000042961
Gene NameEGF-like, fibronectin type III and laminin G domains
Synonymsnectican, pikachurin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02530
Quality Score
Status
Chromosome15
Chromosomal Location7206120-7398395 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 7222812 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 835 (I835F)
Ref Sequence ENSEMBL: ENSMUSP00000094238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058593] [ENSMUST00000096494] [ENSMUST00000160207]
Predicted Effect probably damaging
Transcript: ENSMUST00000058593
AA Change: I827F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: I827F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FN3 35 123 4.52e-9 SMART
FN3 142 225 1.89e-11 SMART
low complexity region 256 273 N/A INTRINSIC
EGF_like 346 381 4.28e1 SMART
LamG 407 543 1.04e-34 SMART
EGF 563 602 3.48e-5 SMART
LamG 633 767 1.55e-33 SMART
EGF 787 820 4.35e-6 SMART
LamG 852 988 1.47e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000096494
AA Change: I835F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: I835F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FN3 35 123 4.52e-9 SMART
FN3 142 225 1.89e-11 SMART
low complexity region 256 273 N/A INTRINSIC
EGF_like 346 381 4.28e1 SMART
LamG 407 543 1.04e-34 SMART
EGF 563 602 3.48e-5 SMART
LamG 633 767 1.55e-33 SMART
EGF 787 820 4.35e-6 SMART
LamG 860 996 1.47e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160314
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants are viable and fertile under normal conditions. They exhibit abnormal photoreceptor ribbon synapses, resulting in alteration in synaptic signal transmission and visual function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,909,376 F305L probably damaging Het
Ankrd12 T C 17: 65,984,403 H1345R probably benign Het
Bloc1s5 A T 13: 38,603,883 M175K probably damaging Het
C9 T A 15: 6,497,132 M549K probably benign Het
Cfap52 A G 11: 67,954,181 probably benign Het
Cntnap2 A T 6: 47,021,736 K907N possibly damaging Het
Cox8c T A 12: 102,899,493 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26b1 A T 6: 84,574,312 N307K possibly damaging Het
Cyp2s1 T C 7: 25,816,424 probably benign Het
Dpysl2 G A 14: 66,824,398 T253I probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Eif5a A T 11: 69,919,163 H51Q possibly damaging Het
Fancd2 T A 6: 113,562,461 I637N probably damaging Het
Gpr173 T A X: 152,347,096 H127L probably damaging Het
Klc3 T C 7: 19,397,044 I203V probably benign Het
Lsg1 T C 16: 30,571,242 K352E probably benign Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med12l G T 3: 59,077,089 D483Y probably damaging Het
Mlh1 A G 9: 111,229,875 Y694H probably benign Het
Mmrn1 A G 6: 60,958,176 R219G possibly damaging Het
Nsd1 T C 13: 55,302,833 probably benign Het
Olfr1080 C T 2: 86,553,880 M81I possibly damaging Het
Olfr1392 A T 11: 49,293,728 M136L possibly damaging Het
Pax3 A T 1: 78,121,787 S322T possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Plekhb2 T C 1: 34,876,941 V187A possibly damaging Het
Pot1a A T 6: 25,794,593 F31I probably damaging Het
Rpap1 A T 2: 119,783,239 probably benign Het
Scmh1 T A 4: 120,528,146 probably benign Het
Scn2a A G 2: 65,730,178 T1251A probably damaging Het
Siglecf T C 7: 43,352,210 V148A probably benign Het
Slit3 A G 11: 35,708,142 *1524W probably null Het
Son C A 16: 91,658,471 P1369T possibly damaging Het
Spp2 T A 1: 88,411,146 L25* probably null Het
Sptbn4 T C 7: 27,391,551 Q1405R probably damaging Het
Traf3ip2 G T 10: 39,646,906 A463S possibly damaging Het
Trappc11 T C 8: 47,507,582 E27G probably damaging Het
Vmn2r12 C T 5: 109,085,992 V785I probably damaging Het
Zc3h8 A G 2: 128,943,926 probably benign Het
Zfp57 T A 17: 37,006,164 S45T probably damaging Het
Other mutations in Egflam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Egflam APN 15 7219764 missense probably damaging 1.00
IGL02352:Egflam APN 15 7234225 missense probably benign 0.01
IGL02359:Egflam APN 15 7234225 missense probably benign 0.01
IGL02389:Egflam APN 15 7250078 missense probably benign 0.01
IGL02400:Egflam APN 15 7247053 missense probably benign 0.00
IGL02892:Egflam APN 15 7289796 missense probably benign
R0047:Egflam UTSW 15 7253430 missense possibly damaging 0.56
R0047:Egflam UTSW 15 7253430 missense possibly damaging 0.56
R0345:Egflam UTSW 15 7289994 splice site probably null
R0504:Egflam UTSW 15 7222758 missense probably damaging 1.00
R0532:Egflam UTSW 15 7234237 missense probably benign 0.19
R0573:Egflam UTSW 15 7242425 nonsense probably null
R0609:Egflam UTSW 15 7253523 missense possibly damaging 0.65
R0648:Egflam UTSW 15 7207709 missense probably damaging 1.00
R0653:Egflam UTSW 15 7250028 critical splice donor site probably null
R1099:Egflam UTSW 15 7252422 missense probably benign 0.00
R1711:Egflam UTSW 15 7289915 missense possibly damaging 0.85
R1842:Egflam UTSW 15 7303941 missense probably benign 0.00
R1964:Egflam UTSW 15 7247105 missense probably damaging 0.97
R2001:Egflam UTSW 15 7242567 missense probably benign 0.18
R2008:Egflam UTSW 15 7237804 missense possibly damaging 0.95
R2134:Egflam UTSW 15 7234279 missense probably damaging 0.97
R2852:Egflam UTSW 15 7219701 missense probably damaging 1.00
R2853:Egflam UTSW 15 7219701 missense probably damaging 1.00
R4257:Egflam UTSW 15 7254426 splice site probably null
R4346:Egflam UTSW 15 7234278 nonsense probably null
R4380:Egflam UTSW 15 7243869 missense possibly damaging 0.70
R4538:Egflam UTSW 15 7252437 missense probably damaging 1.00
R4746:Egflam UTSW 15 7224639 splice site probably null
R4909:Egflam UTSW 15 7219629 missense probably damaging 1.00
R5027:Egflam UTSW 15 7253644 missense probably benign 0.00
R5314:Egflam UTSW 15 7304012 missense probably damaging 1.00
R5439:Egflam UTSW 15 7224663 missense probably damaging 0.99
R5495:Egflam UTSW 15 7251241 missense probably damaging 1.00
R5626:Egflam UTSW 15 7251207 missense possibly damaging 0.89
R5931:Egflam UTSW 15 7243857 missense possibly damaging 0.49
R5977:Egflam UTSW 15 7318245 missense possibly damaging 0.94
R6258:Egflam UTSW 15 7234292 missense probably damaging 0.98
R6395:Egflam UTSW 15 7231695 missense probably damaging 1.00
R6497:Egflam UTSW 15 7251303 splice site probably null
R6736:Egflam UTSW 15 7219725 missense probably damaging 1.00
R7586:Egflam UTSW 15 7208601 missense probably damaging 1.00
R7764:Egflam UTSW 15 7318255 missense probably damaging 0.98
R7781:Egflam UTSW 15 7253746 missense probably null 0.94
R7842:Egflam UTSW 15 7251194 missense probably null 1.00
R8011:Egflam UTSW 15 7247044 missense possibly damaging 0.89
R8080:Egflam UTSW 15 7398080 missense probably benign 0.09
R8175:Egflam UTSW 15 7212152 missense probably damaging 1.00
R8300:Egflam UTSW 15 7254451 missense possibly damaging 0.77
R8553:Egflam UTSW 15 7207748 missense probably damaging 1.00
R8880:Egflam UTSW 15 7237768 missense probably damaging 0.98
X0024:Egflam UTSW 15 7304013 missense probably damaging 0.99
Posted On2015-04-16