Incidental Mutation 'R5627:Egfem1'
ID 441872
Institutional Source Beutler Lab
Gene Symbol Egfem1
Ensembl Gene ENSMUSG00000063600
Gene Name EGF-like and EMI domain containing 1
Synonyms 6130401L20Rik
MMRRC Submission 043166-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5627 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 29136172-29745358 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 29722548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 175 (E175*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118531] [ENSMUST00000119598]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000118531
AA Change: E369*
SMART Domains Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: E369*

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
AA Change: E426*
SMART Domains Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: E426*

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
AA Change: E175*
SMART Domains Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: E175*

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Abl1 T C 2: 31,690,595 (GRCm39) W705R probably benign Het
Alpk1 A T 3: 127,474,296 (GRCm39) V569D probably damaging Het
Ano3 T C 2: 110,587,298 (GRCm39) N425S possibly damaging Het
Atad2b A G 12: 4,967,911 (GRCm39) D68G probably benign Het
Cacna1e A G 1: 154,511,604 (GRCm39) I173T probably damaging Het
Cenpe G T 3: 134,941,234 (GRCm39) L716F possibly damaging Het
Cep85 A T 4: 133,861,408 (GRCm39) L622Q probably damaging Het
Cep97 A G 16: 55,745,330 (GRCm39) probably null Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chil5 A G 3: 105,926,951 (GRCm39) L228P probably damaging Het
Col22a1 T C 15: 71,853,767 (GRCm39) E265G probably damaging Het
Col3a1 T C 1: 45,370,720 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,049,664 (GRCm39) D497E probably benign Het
Eif4g2 A G 7: 110,673,446 (GRCm39) Y778H probably benign Het
Fam98b T C 2: 117,098,414 (GRCm39) C295R probably damaging Het
Gm3149 A T 14: 15,702,790 (GRCm39) I246L probably benign Het
Gm5134 A G 10: 75,821,942 (GRCm39) T259A possibly damaging Het
Gm5150 A G 3: 16,017,564 (GRCm39) Y236H probably damaging Het
Golga2 C A 2: 32,196,059 (GRCm39) Y864* probably null Het
Inpp4a A G 1: 37,406,854 (GRCm39) D199G probably damaging Het
Inpp4b T C 8: 82,470,445 (GRCm39) probably benign Het
Kremen1 T C 11: 5,149,709 (GRCm39) T321A probably benign Het
Map3k3 A G 11: 106,039,428 (GRCm39) S250G probably benign Het
Mtmr10 A T 7: 63,986,500 (GRCm39) K526M probably damaging Het
Nbea C T 3: 55,899,766 (GRCm39) C1461Y probably damaging Het
Nckap5l A T 15: 99,325,587 (GRCm39) N305K possibly damaging Het
Nup210l A T 3: 90,051,557 (GRCm39) Y567F probably damaging Het
Or11g26 A G 14: 50,753,257 (GRCm39) M199V probably benign Het
Or14c39 G T 7: 86,344,347 (GRCm39) V228F possibly damaging Het
Or4a70 A T 2: 89,324,388 (GRCm39) N89K probably benign Het
Or56b2 G A 7: 104,337,377 (GRCm39) V52M probably benign Het
Or5b96 T A 19: 12,867,663 (GRCm39) I93F probably damaging Het
Or5g25 T A 2: 85,477,991 (GRCm39) I225F probably damaging Het
Rcc1 T C 4: 132,065,454 (GRCm39) R57G probably damaging Het
Rfx7 C T 9: 72,440,066 (GRCm39) probably benign Het
Saraf T A 8: 34,621,799 (GRCm39) M1K probably null Het
Serpinb9d C T 13: 33,386,676 (GRCm39) T248I probably damaging Het
Slc38a6 A G 12: 73,390,457 (GRCm39) I254M possibly damaging Het
Slc6a5 A G 7: 49,561,522 (GRCm39) D18G possibly damaging Het
Supt20 A G 3: 54,620,611 (GRCm39) D389G possibly damaging Het
Tecpr2 T A 12: 110,907,916 (GRCm39) I1001K probably damaging Het
Vcan CAAAA CAA 13: 89,839,254 (GRCm39) probably null Het
Wdr36 T A 18: 32,994,691 (GRCm39) D717E possibly damaging Het
Zfp318 T C 17: 46,724,062 (GRCm39) S2022P probably damaging 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
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
R5982:Egfem1 UTSW 3 29,711,419 (GRCm39) splice site probably null
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
Posted On 2016-11-08