Incidental Mutation 'R1754:Egfem1'
ID 193815
Institutional Source Beutler Lab
Gene Symbol Egfem1
Ensembl Gene ENSMUSG00000063600
Gene Name EGF-like and EMI domain containing 1
Synonyms 6130401L20Rik
MMRRC Submission 039786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 29136172-29745358 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29722482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 404 (Y404H)
Ref Sequence ENSEMBL: ENSMUSP00000112943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118531] [ENSMUST00000119598]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000118531
AA Change: Y347H

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: Y347H

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 possibly damaging
Transcript: ENSMUST00000119598
AA Change: Y404H

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: Y404H

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 unknown
Transcript: ENSMUST00000140288
AA Change: Y153H
SMART Domains Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: Y153H

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: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,324,345 (GRCm39) L234M probably benign Het
Abca3 G A 17: 24,596,753 (GRCm39) S402N probably benign Het
Acad12 A T 5: 121,745,544 (GRCm39) V249D probably benign Het
Acp4 T C 7: 43,904,428 (GRCm39) I212V probably benign Het
Actl6a T A 3: 32,772,723 (GRCm39) V233D probably damaging Het
Aire T A 10: 77,866,124 (GRCm39) Q533L probably damaging Het
Aldh3b3 T C 19: 4,018,517 (GRCm39) S411P probably benign Het
Amer2 A G 14: 60,617,206 (GRCm39) K467R probably damaging Het
Apol9b A T 15: 77,619,962 (GRCm39) I253F probably benign Het
Arid1b A G 17: 5,329,476 (GRCm39) probably null Het
Atp6v0a4 T C 6: 38,044,764 (GRCm39) T494A probably benign Het
Atp6v1b2 A G 8: 69,554,613 (GRCm39) D106G probably benign Het
Avpr1b T C 1: 131,527,839 (GRCm39) S121P probably damaging Het
Bcl11a A C 11: 24,114,724 (GRCm39) E689A probably damaging Het
Brpf3 T G 17: 29,040,297 (GRCm39) L906R probably benign Het
Btn1a1 T C 13: 23,644,638 (GRCm39) K287E probably benign Het
Cacna1i A G 15: 80,255,730 (GRCm39) H871R probably damaging Het
Cd14 A T 18: 36,858,567 (GRCm39) L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Colgalt1 G T 8: 72,075,823 (GRCm39) W490L probably damaging Het
Ctnna2 A G 6: 77,613,732 (GRCm39) I273T possibly damaging Het
Dnah7a A T 1: 53,543,344 (GRCm39) D2275E probably benign Het
Dnah7a A C 1: 53,601,059 (GRCm39) probably null Het
Esm1 A T 13: 113,353,230 (GRCm39) N171Y probably damaging Het
Exoc1 T G 5: 76,708,169 (GRCm39) probably null Het
Fam243 A G 16: 92,117,919 (GRCm39) V123A probably damaging Het
Fcho1 A G 8: 72,163,890 (GRCm39) I580T probably benign Het
Fgfr1 A G 8: 26,060,226 (GRCm39) H552R probably damaging Het
Fsbp A G 4: 11,583,906 (GRCm39) R202G probably damaging Het
Gabra6 A G 11: 42,207,388 (GRCm39) V231A probably damaging Het
Gmeb1 A G 4: 131,959,338 (GRCm39) S239P probably benign Het
Gnpat T A 8: 125,603,745 (GRCm39) Y208N probably damaging Het
Il21 T C 3: 37,279,674 (GRCm39) K114R possibly damaging Het
Inhbc T C 10: 127,206,162 (GRCm39) D35G possibly damaging Het
Inpp4b A T 8: 82,497,440 (GRCm39) T87S probably damaging Het
Kcns2 T C 15: 34,839,663 (GRCm39) I342T possibly damaging Het
Ky A T 9: 102,419,126 (GRCm39) T378S possibly damaging Het
Lcat CAT C 8: 106,668,446 (GRCm39) probably null Het
Lrrc8d T C 5: 105,960,523 (GRCm39) V311A probably benign Het
Mief1 A G 15: 80,133,803 (GRCm39) I287V probably damaging Het
Mrpl47 A G 3: 32,784,233 (GRCm39) V179A probably benign Het
Mtcl1 T C 17: 66,687,178 (GRCm39) K576R probably damaging Het
Myh10 C A 11: 68,703,884 (GRCm39) A1902E probably damaging Het
Nlrp3 A G 11: 59,449,228 (GRCm39) T837A possibly damaging Het
Nr1i3 T C 1: 171,044,963 (GRCm39) Y132H probably damaging Het
Oit3 T C 10: 59,263,762 (GRCm39) probably null Het
Or12j4 A T 7: 140,046,773 (GRCm39) I220F probably damaging Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4c100 A T 2: 88,356,159 (GRCm39) R77S probably damaging Het
Or5b113 T C 19: 13,342,717 (GRCm39) S242P probably damaging Het
Or5h25 T A 16: 58,930,944 (GRCm39) I10F probably benign Het
Or6k14 A G 1: 173,927,599 (GRCm39) T192A probably benign Het
Or7a42 T A 10: 78,791,531 (GRCm39) V164E probably damaging Het
Or9k2 G A 10: 129,999,033 (GRCm39) T54I probably benign Het
Pdlim4 T C 11: 53,946,699 (GRCm39) E196G possibly damaging Het
Pigs A G 11: 78,228,673 (GRCm39) Y293C probably damaging Het
Pkd1l2 A T 8: 117,757,458 (GRCm39) S1527T possibly damaging Het
Pkd2l1 A T 19: 44,144,040 (GRCm39) Y344* probably null Het
Pmp2 T C 3: 10,247,284 (GRCm39) probably null Het
Polr3e T C 7: 120,538,521 (GRCm39) probably null Het
Ppp3ca C G 3: 136,587,209 (GRCm39) I230M probably benign Het
Ppp5c T C 7: 16,739,235 (GRCm39) H463R probably benign Het
Ptger1 A G 8: 84,395,926 (GRCm39) N328D probably benign Het
Rhno1 A T 6: 128,334,822 (GRCm39) I167N probably benign Het
Rictor C A 15: 6,764,849 (GRCm39) P34H probably damaging Het
Rnf10 A C 5: 115,383,924 (GRCm39) S630R probably damaging Het
Rnf168 A G 16: 32,117,942 (GRCm39) Q501R probably benign Het
Rngtt T G 4: 33,329,634 (GRCm39) probably null Het
Samd9l G T 6: 3,373,126 (GRCm39) F1378L probably damaging Het
Slc9c1 T A 16: 45,409,872 (GRCm39) M864K probably benign Het
Slitrk5 T C 14: 111,917,951 (GRCm39) F525S probably damaging Het
Sox6 T C 7: 115,076,290 (GRCm39) M784V probably benign Het
Spata31e4 A T 13: 50,855,123 (GRCm39) T254S probably damaging Het
Spint2 C T 7: 28,959,791 (GRCm39) probably null Het
Ssh1 A T 5: 114,093,906 (GRCm39) I276N probably damaging Het
Trank1 T A 9: 111,221,939 (GRCm39) V2892D probably benign Het
Ttn C A 2: 76,581,384 (GRCm39) E21424* probably null Het
Usp17lc T C 7: 103,068,055 (GRCm39) I450T probably benign Het
Vcan A G 13: 89,852,854 (GRCm39) V702A probably benign Het
Vmn1r36 TA TAA 6: 66,693,517 (GRCm39) probably null Het
Vmn2r51 G T 7: 9,833,873 (GRCm39) D388E probably benign Het
Zfp106 A C 2: 120,364,245 (GRCm39) S721A probably damaging Het
Zfp106 G A 2: 120,364,244 (GRCm39) S721L probably damaging Het
Zfp189 T A 4: 49,529,342 (GRCm39) H148Q possibly damaging Het
Zfp352 A T 4: 90,112,046 (GRCm39) Y62F probably benign Het
Zfp839 T C 12: 110,821,891 (GRCm39) V235A probably damaging Het
Zfp871 T C 17: 32,994,308 (GRCm39) Y289C 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
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
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 PCR Primer
(F):5'- CAGAATGCTGGGGAAGAACCTTCAC -3'
(R):5'- AGTAATGTCTGGCTTTGAGAGCAACG -3'

Sequencing Primer
(F):5'- ctccttccttttccccttcc -3'
(R):5'- TTTGAGAGCAACGAATCAGTCC -3'
Posted On 2014-05-23