Incidental Mutation 'R5982:Egfem1'
ID 482140
Institutional Source Beutler Lab
Gene Symbol Egfem1
Ensembl Gene ENSMUSG00000063600
Gene Name EGF-like and EMI domain containing 1
Synonyms 6130401L20Rik
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5982 (G1)
Quality Score 220.009
Status Validated
Chromosome 3
Chromosomal Location 29136172-29745358 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 29711419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000118531] [ENSMUST00000118531] [ENSMUST00000119598]
AlphaFold no structure available at present
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: 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
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in Egfem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Egfem1 APN 3 29,711,302 (GRCm39) missense possibly damaging 0.54
IGL02111:Egfem1 APN 3 29,705,045 (GRCm39) splice site probably null
IGL02325:Egfem1 APN 3 29,206,066 (GRCm39) missense probably benign 0.01
IGL02450:Egfem1 APN 3 29,711,417 (GRCm39) critical splice donor site probably null
IGL02543:Egfem1 APN 3 29,722,529 (GRCm39) missense probably benign 0.01
IGL02835:Egfem1 UTSW 3 29,711,390 (GRCm39) missense probably damaging 1.00
P0033:Egfem1 UTSW 3 29,744,340 (GRCm39) missense probably damaging 1.00
R0010:Egfem1 UTSW 3 29,637,068 (GRCm39) missense probably damaging 1.00
R0294:Egfem1 UTSW 3 29,744,270 (GRCm39) missense probably damaging 1.00
R0379:Egfem1 UTSW 3 29,722,399 (GRCm39) missense possibly damaging 0.92
R1479:Egfem1 UTSW 3 29,711,314 (GRCm39) missense probably damaging 1.00
R1572:Egfem1 UTSW 3 29,702,420 (GRCm39) missense probably benign 0.02
R1754:Egfem1 UTSW 3 29,722,482 (GRCm39) missense possibly damaging 0.68
R2568:Egfem1 UTSW 3 29,637,080 (GRCm39) missense probably damaging 1.00
R2679:Egfem1 UTSW 3 29,724,825 (GRCm39) missense probably benign 0.01
R3411:Egfem1 UTSW 3 29,637,170 (GRCm39) missense probably damaging 1.00
R3801:Egfem1 UTSW 3 29,206,075 (GRCm39) missense probably benign 0.14
R4049:Egfem1 UTSW 3 29,740,880 (GRCm39) missense probably benign 0.01
R4851:Egfem1 UTSW 3 29,206,032 (GRCm39) missense possibly damaging 0.92
R4917:Egfem1 UTSW 3 29,206,042 (GRCm39) missense probably damaging 1.00
R4918:Egfem1 UTSW 3 29,206,042 (GRCm39) missense probably damaging 1.00
R4969:Egfem1 UTSW 3 29,637,145 (GRCm39) missense probably damaging 0.98
R4997:Egfem1 UTSW 3 29,207,739 (GRCm39) missense probably benign 0.00
R5148:Egfem1 UTSW 3 29,511,972 (GRCm39) intron probably benign
R5194:Egfem1 UTSW 3 29,411,345 (GRCm39) critical splice donor site probably null
R5284:Egfem1 UTSW 3 29,704,936 (GRCm39) missense possibly damaging 0.53
R5354:Egfem1 UTSW 3 29,136,361 (GRCm39) critical splice donor site probably null
R5627:Egfem1 UTSW 3 29,722,548 (GRCm39) nonsense probably null
R5677:Egfem1 UTSW 3 29,744,323 (GRCm39) missense probably damaging 0.99
R5928:Egfem1 UTSW 3 29,637,077 (GRCm39) missense possibly damaging 0.92
R6419:Egfem1 UTSW 3 29,711,398 (GRCm39) missense probably damaging 1.00
R6475:Egfem1 UTSW 3 29,711,312 (GRCm39) missense probably damaging 1.00
R6586:Egfem1 UTSW 3 29,716,560 (GRCm39) nonsense probably null
R7046:Egfem1 UTSW 3 29,136,364 (GRCm39) splice site probably null
R7079:Egfem1 UTSW 3 29,207,731 (GRCm39) missense probably benign 0.00
R7308:Egfem1 UTSW 3 29,206,015 (GRCm39) missense probably benign 0.09
R7362:Egfem1 UTSW 3 29,206,069 (GRCm39) missense probably benign 0.01
R7684:Egfem1 UTSW 3 29,744,334 (GRCm39) missense probably damaging 0.97
R7697:Egfem1 UTSW 3 29,744,346 (GRCm39) critical splice donor site probably null
R7814:Egfem1 UTSW 3 29,740,940 (GRCm39) missense probably damaging 1.00
R8226:Egfem1 UTSW 3 29,711,404 (GRCm39) missense probably damaging 1.00
R8429:Egfem1 UTSW 3 29,711,417 (GRCm39) critical splice donor site probably null
R8928:Egfem1 UTSW 3 29,744,561 (GRCm39) makesense probably null
R9210:Egfem1 UTSW 3 29,207,743 (GRCm39) missense probably damaging 1.00
R9227:Egfem1 UTSW 3 29,411,317 (GRCm39) missense probably benign 0.03
R9230:Egfem1 UTSW 3 29,411,317 (GRCm39) missense probably benign 0.03
R9720:Egfem1 UTSW 3 29,716,580 (GRCm39) missense probably damaging 1.00
R9745:Egfem1 UTSW 3 29,716,532 (GRCm39) missense probably damaging 1.00
X0028:Egfem1 UTSW 3 29,711,295 (GRCm39) missense probably damaging 1.00
Z1177:Egfem1 UTSW 3 29,202,602 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- ATGTCTGTGGTTCACATGTATTCC -3'
(R):5'- AGCCCTGCGTATCTCAATAAG -3'

Sequencing Primer
(F):5'- CTGTTGTCATGTTAATAGCTCCC -3'
(R):5'- CCTGCGTATCTCAATAAGAGTGTTTC -3'
Posted On 2017-06-27