Incidental Mutation 'IGL02400:Egflam'
ID 291863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egflam
Ensembl Gene ENSMUSG00000042961
Gene Name EGF-like, fibronectin type III and laminin G domains
Synonyms pikachurin, nectican
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02400
Quality Score
Status
Chromosome 15
Chromosomal Location 7235601-7427876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7276534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 544 (K544M)
Ref Sequence ENSEMBL: ENSMUSP00000094238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058593] [ENSMUST00000096494] [ENSMUST00000160207]
AlphaFold Q4VBE4
Predicted Effect probably benign
Transcript: ENSMUST00000058593
AA Change: K544M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: K544M

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 benign
Transcript: ENSMUST00000096494
AA Change: K544M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: K544M

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: ENSMUST00000160273
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,290,644 (GRCm39) I128V possibly damaging Het
Arfgef3 G T 10: 18,522,005 (GRCm39) Q674K probably damaging Het
Atp6v0a2 T A 5: 124,798,849 (GRCm39) N851K probably benign Het
Chrna7 A G 7: 62,749,070 (GRCm39) C471R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Erbb3 A C 10: 128,415,393 (GRCm39) N385K probably benign Het
Fancm A G 12: 65,160,589 (GRCm39) R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 (GRCm39) probably null Het
Gm20489 A T X: 100,306,944 (GRCm39) N328K possibly damaging Het
Gm5828 G T 1: 16,840,042 (GRCm39) noncoding transcript Het
Gnaq T C 19: 16,293,492 (GRCm39) Y145H probably damaging Het
Itgbl1 A G 14: 124,083,938 (GRCm39) D148G probably damaging Het
Myc T G 15: 61,861,760 (GRCm39) probably benign Het
Or10d5 A G 9: 39,861,635 (GRCm39) V144A probably benign Het
Or5m3b A T 2: 85,872,420 (GRCm39) I254F probably benign Het
Or6c211 A G 10: 129,505,752 (GRCm39) V212A probably damaging Het
Padi3 T G 4: 140,516,179 (GRCm39) K567T probably benign Het
Pi4ka T C 16: 17,111,748 (GRCm39) T1576A probably damaging Het
Pikfyve A G 1: 65,291,728 (GRCm39) R1316G probably damaging Het
Ryr2 A G 13: 11,620,130 (GRCm39) probably benign Het
Sash1 G A 10: 8,609,411 (GRCm39) R713* probably null Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tnfsf4 T A 1: 161,223,276 (GRCm39) C42S possibly damaging Het
Tpp1 A G 7: 105,396,238 (GRCm39) I487T possibly damaging Het
Trim43a T A 9: 88,464,165 (GRCm39) N25K probably benign Het
Tuft1 T C 3: 94,542,809 (GRCm39) probably benign Het
Usp46 T C 5: 74,197,713 (GRCm39) H26R probably benign Het
Zfp560 A T 9: 20,261,896 (GRCm39) I85N possibly damaging Het
Other mutations in Egflam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Egflam APN 15 7,249,245 (GRCm39) missense probably damaging 1.00
IGL02352:Egflam APN 15 7,263,706 (GRCm39) missense probably benign 0.01
IGL02359:Egflam APN 15 7,263,706 (GRCm39) missense probably benign 0.01
IGL02389:Egflam APN 15 7,279,559 (GRCm39) missense probably benign 0.01
IGL02530:Egflam APN 15 7,252,293 (GRCm39) missense probably damaging 1.00
IGL02892:Egflam APN 15 7,319,277 (GRCm39) missense probably benign
R0047:Egflam UTSW 15 7,282,911 (GRCm39) missense possibly damaging 0.56
R0047:Egflam UTSW 15 7,282,911 (GRCm39) missense possibly damaging 0.56
R0345:Egflam UTSW 15 7,319,475 (GRCm39) splice site probably null
R0504:Egflam UTSW 15 7,252,239 (GRCm39) missense probably damaging 1.00
R0532:Egflam UTSW 15 7,263,718 (GRCm39) missense probably benign 0.19
R0573:Egflam UTSW 15 7,271,906 (GRCm39) nonsense probably null
R0609:Egflam UTSW 15 7,283,004 (GRCm39) missense possibly damaging 0.65
R0648:Egflam UTSW 15 7,237,190 (GRCm39) missense probably damaging 1.00
R0653:Egflam UTSW 15 7,279,509 (GRCm39) critical splice donor site probably null
R1099:Egflam UTSW 15 7,281,903 (GRCm39) missense probably benign 0.00
R1711:Egflam UTSW 15 7,319,396 (GRCm39) missense possibly damaging 0.85
R1842:Egflam UTSW 15 7,333,422 (GRCm39) missense probably benign 0.00
R1964:Egflam UTSW 15 7,276,586 (GRCm39) missense probably damaging 0.97
R2001:Egflam UTSW 15 7,272,048 (GRCm39) missense probably benign 0.18
R2008:Egflam UTSW 15 7,267,285 (GRCm39) missense possibly damaging 0.95
R2134:Egflam UTSW 15 7,263,760 (GRCm39) missense probably damaging 0.97
R2852:Egflam UTSW 15 7,249,182 (GRCm39) missense probably damaging 1.00
R2853:Egflam UTSW 15 7,249,182 (GRCm39) missense probably damaging 1.00
R4257:Egflam UTSW 15 7,283,907 (GRCm39) splice site probably null
R4346:Egflam UTSW 15 7,263,759 (GRCm39) nonsense probably null
R4380:Egflam UTSW 15 7,273,350 (GRCm39) missense possibly damaging 0.70
R4538:Egflam UTSW 15 7,281,918 (GRCm39) missense probably damaging 1.00
R4746:Egflam UTSW 15 7,254,120 (GRCm39) splice site probably null
R4909:Egflam UTSW 15 7,249,110 (GRCm39) missense probably damaging 1.00
R5027:Egflam UTSW 15 7,283,125 (GRCm39) missense probably benign 0.00
R5314:Egflam UTSW 15 7,333,493 (GRCm39) missense probably damaging 1.00
R5439:Egflam UTSW 15 7,254,144 (GRCm39) missense probably damaging 0.99
R5495:Egflam UTSW 15 7,280,722 (GRCm39) missense probably damaging 1.00
R5626:Egflam UTSW 15 7,280,688 (GRCm39) missense possibly damaging 0.89
R5931:Egflam UTSW 15 7,273,338 (GRCm39) missense possibly damaging 0.49
R5977:Egflam UTSW 15 7,347,726 (GRCm39) missense possibly damaging 0.94
R6258:Egflam UTSW 15 7,263,773 (GRCm39) missense probably damaging 0.98
R6395:Egflam UTSW 15 7,261,176 (GRCm39) missense probably damaging 1.00
R6497:Egflam UTSW 15 7,280,784 (GRCm39) splice site probably null
R6736:Egflam UTSW 15 7,249,206 (GRCm39) missense probably damaging 1.00
R7586:Egflam UTSW 15 7,238,082 (GRCm39) missense probably damaging 1.00
R7764:Egflam UTSW 15 7,347,736 (GRCm39) missense probably damaging 0.98
R7781:Egflam UTSW 15 7,283,227 (GRCm39) missense probably null 0.94
R7842:Egflam UTSW 15 7,280,675 (GRCm39) missense probably null 1.00
R8011:Egflam UTSW 15 7,276,525 (GRCm39) missense possibly damaging 0.89
R8080:Egflam UTSW 15 7,427,561 (GRCm39) missense probably benign 0.09
R8175:Egflam UTSW 15 7,241,633 (GRCm39) missense probably damaging 1.00
R8300:Egflam UTSW 15 7,283,932 (GRCm39) missense possibly damaging 0.77
R8553:Egflam UTSW 15 7,237,229 (GRCm39) missense probably damaging 1.00
R8880:Egflam UTSW 15 7,267,249 (GRCm39) missense probably damaging 0.98
R9076:Egflam UTSW 15 7,237,155 (GRCm39) missense probably damaging 1.00
R9216:Egflam UTSW 15 7,281,942 (GRCm39) missense probably benign 0.02
R9518:Egflam UTSW 15 7,319,263 (GRCm39) critical splice donor site probably null
R9557:Egflam UTSW 15 7,241,656 (GRCm39) missense probably damaging 1.00
R9745:Egflam UTSW 15 7,333,419 (GRCm39) missense probably benign 0.38
R9800:Egflam UTSW 15 7,279,525 (GRCm39) missense probably benign 0.01
X0024:Egflam UTSW 15 7,333,494 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16