Incidental Mutation 'R2134:Egflam'
ID 233669
Institutional Source Beutler Lab
Gene Symbol Egflam
Ensembl Gene ENSMUSG00000042961
Gene Name EGF-like, fibronectin type III and laminin G domains
Synonyms pikachurin, nectican
MMRRC Submission 040137-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2134 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 7235601-7427876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 7263760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 730 (C730Y)
Ref Sequence ENSEMBL: ENSMUSP00000094238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058593] [ENSMUST00000096494] [ENSMUST00000160207]
AlphaFold Q4VBE4
Predicted Effect probably damaging
Transcript: ENSMUST00000058593
AA Change: C730Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: C730Y

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: C730Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: C730Y

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,921,743 (GRCm39) V1437E probably null Het
Adam12 G A 7: 133,614,017 (GRCm39) R80* probably null Het
Adgrb3 G T 1: 25,133,038 (GRCm39) F479L probably damaging Het
Atf7ip T A 6: 136,582,485 (GRCm39) V1165E possibly damaging Het
Atm C T 9: 53,379,264 (GRCm39) probably null Het
Atp11c A G X: 59,322,143 (GRCm39) Y593H probably damaging Het
Btnl1 A G 17: 34,604,608 (GRCm39) D463G possibly damaging Het
Cdc34b T G 11: 94,633,252 (GRCm39) W151G probably damaging Het
Cdkal1 A G 13: 29,538,660 (GRCm39) S500P possibly damaging Het
Cenpf T C 1: 189,390,839 (GRCm39) N998D probably benign Het
Ces2e T A 8: 105,659,171 (GRCm39) probably null Het
Chd7 A G 4: 8,753,147 (GRCm39) Q548R probably damaging Het
Chfr T A 5: 110,292,627 (GRCm39) probably null Het
Clu A G 14: 66,212,290 (GRCm39) probably null Het
Cntnap5c A G 17: 58,714,717 (GRCm39) D1235G probably damaging Het
Col6a4 T C 9: 105,943,860 (GRCm39) S1205G probably benign Het
Ddx47 G T 6: 134,992,313 (GRCm39) E113* probably null Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Dync1h1 T A 12: 110,623,065 (GRCm39) N3553K possibly damaging Het
Fam83b T C 9: 76,398,298 (GRCm39) Y935C probably damaging Het
Fam83g A G 11: 61,594,510 (GRCm39) I681M probably benign Het
Fastk T C 5: 24,650,139 (GRCm39) R3G probably damaging Het
Fxr1 A T 3: 34,112,196 (GRCm39) E367D probably damaging Het
Gatb A G 3: 85,518,677 (GRCm39) D261G probably damaging Het
Gm5617 T C 9: 48,407,117 (GRCm39) S84P possibly damaging Het
Hecw1 C T 13: 14,552,285 (GRCm39) E104K probably damaging Het
Il31ra T C 13: 112,680,422 (GRCm39) K265R possibly damaging Het
Khsrp GTCATT GT 17: 57,331,410 (GRCm39) probably null Het
Lrp2 T A 2: 69,341,411 (GRCm39) D923V probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map1s T G 8: 71,366,526 (GRCm39) V477G probably benign Het
Mical1 T C 10: 41,358,708 (GRCm39) L542P probably damaging Het
Mtcl3 T A 10: 29,072,395 (GRCm39) Y562* probably null Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Mylk A T 16: 34,806,846 (GRCm39) D1697V probably benign Het
Nlrp1a A T 11: 71,015,014 (GRCm39) F79I probably benign Het
Or52d3 T C 7: 104,228,848 (GRCm39) probably benign Het
Pde9a A G 17: 31,605,284 (GRCm39) Y6C probably damaging Het
Plxnd1 A T 6: 115,934,509 (GRCm39) I1808N probably damaging Het
Ppp1r13b T A 12: 111,800,167 (GRCm39) T537S probably benign Het
Ppp2r2a A G 14: 67,253,924 (GRCm39) F415L possibly damaging Het
Rabgap1 C T 2: 37,453,499 (GRCm39) R976* probably null Het
Rbfox3 T C 11: 118,387,842 (GRCm39) H195R probably damaging Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Sdhaf4 T A 1: 24,044,634 (GRCm39) R16S probably benign Het
Slc17a1 G T 13: 24,059,658 (GRCm39) G130* probably null Het
Slc6a1 G T 6: 114,278,977 (GRCm39) A23S probably benign Het
Slco1a8 T C 6: 141,926,704 (GRCm39) I541V probably damaging Het
Spock1 T A 13: 57,583,952 (GRCm39) Q321L probably damaging Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Terf2ip T C 8: 112,738,271 (GRCm39) V53A possibly damaging Het
Thrb T C 14: 18,033,487 (GRCm38) F403L probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Uqcrfs1 T C 13: 30,724,787 (GRCm39) K251R probably benign Het
Vmn2r111 T C 17: 22,792,085 (GRCm39) E57G possibly damaging Het
Vmn2r114 T A 17: 23,510,737 (GRCm39) Y581F probably damaging Het
Vps13d A G 4: 144,874,909 (GRCm39) V1866A probably benign Het
Washc5 A T 15: 59,241,083 (GRCm39) F84Y probably damaging Het
Yars1 T A 4: 129,090,992 (GRCm39) Y28* probably null Het
Zfp638 A G 6: 83,905,964 (GRCm39) Y43C probably damaging Het
Zfp750 T A 11: 121,404,758 (GRCm39) H39L probably damaging Het
Zfr2 C A 10: 81,078,735 (GRCm39) S322R probably damaging Het
Zzef1 A G 11: 72,771,450 (GRCm39) D1644G probably benign 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
IGL02400:Egflam APN 15 7,276,534 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCCAGGAACAGGTGTTTGG -3'
(R):5'- CAGTGATGTAGTCTGCACACAC -3'

Sequencing Primer
(F):5'- CAGGTGTTTGGAGAACTAGACTG -3'
(R):5'- GTGATGTAGTCTGCACACACATTCAG -3'
Posted On 2014-10-01