Incidental Mutation 'R0432:Eml2'
ID 38827
Institutional Source Beutler Lab
Gene Symbol Eml2
Ensembl Gene ENSMUSG00000040811
Gene Name echinoderm microtubule associated protein like 2
Synonyms 1600029N02Rik
MMRRC Submission 038634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0432 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18910346-18940407 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 18913456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 125 (Q125*)
Ref Sequence ENSEMBL: ENSMUSP00000112491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048502] [ENSMUST00000117338] [ENSMUST00000120595] [ENSMUST00000141718] [ENSMUST00000144054] [ENSMUST00000148246]
AlphaFold Q7TNG5
Predicted Effect probably benign
Transcript: ENSMUST00000048502
SMART Domains Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811

DomainStartEndE-ValueType
Pfam:HELP 17 65 4.6e-14 PFAM
WD40 113 162 8.36e-2 SMART
WD40 165 210 9.21e0 SMART
WD40 213 252 7.99e-1 SMART
WD40 258 298 3.7e0 SMART
WD40 301 341 3.58e-1 SMART
WD40 385 424 5.52e-2 SMART
WD40 427 465 1.1e1 SMART
WD40 468 507 4.95e-4 SMART
WD40 514 553 4.62e-4 SMART
WD40 579 620 4.75e1 SMART
WD40 626 666 2.67e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083609
Predicted Effect probably null
Transcript: ENSMUST00000117338
AA Change: Q125*
SMART Domains Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: Q125*

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
coiled coil region 59 106 N/A INTRINSIC
low complexity region 183 191 N/A INTRINSIC
Pfam:HELP 211 285 3.5e-29 PFAM
WD40 286 335 5.5e-4 SMART
WD40 338 383 5.8e-2 SMART
WD40 386 425 5.2e-3 SMART
WD40 431 471 2.4e-2 SMART
WD40 474 514 2.3e-3 SMART
WD40 558 597 3.6e-4 SMART
WD40 600 638 7.1e-2 SMART
WD40 641 680 3.1e-6 SMART
WD40 687 726 3.1e-6 SMART
WD40 752 793 3e-1 SMART
WD40 799 839 1.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120595
SMART Domains Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811

DomainStartEndE-ValueType
WD40 94 154 2.48e0 SMART
WD40 157 196 7.99e-1 SMART
WD40 202 242 3.7e0 SMART
WD40 245 285 3.58e-1 SMART
WD40 329 368 5.52e-2 SMART
WD40 371 409 1.1e1 SMART
WD40 412 451 4.95e-4 SMART
WD40 458 497 4.62e-4 SMART
WD40 523 564 4.75e1 SMART
WD40 570 610 2.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146095
Predicted Effect probably benign
Transcript: ENSMUST00000144054
Predicted Effect probably benign
Transcript: ENSMUST00000148246
SMART Domains Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811

DomainStartEndE-ValueType
WD40 94 143 8.36e-2 SMART
WD40 146 191 9.21e0 SMART
WD40 194 233 7.99e-1 SMART
WD40 239 279 3.7e0 SMART
WD40 282 322 3.58e-1 SMART
WD40 366 405 5.52e-2 SMART
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 99% (91/92)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,708 (GRCm39) L110P probably damaging Het
4930522L14Rik A T 5: 109,884,785 (GRCm39) C358S probably damaging Het
Abca8b C A 11: 109,870,841 (GRCm39) V104F possibly damaging Het
Afap1l2 T C 19: 56,905,551 (GRCm39) probably benign Het
Ahctf1 A C 1: 179,611,726 (GRCm39) I548R probably damaging Het
Alox12b G T 11: 69,060,382 (GRCm39) G646V probably damaging Het
Aoah C T 13: 21,095,368 (GRCm39) probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Atxn1l A G 8: 110,458,325 (GRCm39) W646R probably damaging Het
Cabp2 T C 19: 4,134,903 (GRCm39) I28T possibly damaging Het
Cacna1b G A 2: 24,577,716 (GRCm39) T719I probably damaging Het
Camk1d A T 2: 5,449,946 (GRCm39) H70Q probably damaging Het
Car1 T C 3: 14,835,236 (GRCm39) T170A probably benign Het
Ccdc162 T C 10: 41,417,856 (GRCm39) T2113A probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh17 T A 4: 11,771,273 (GRCm39) C18* probably null Het
Cdk17 A T 10: 93,073,652 (GRCm39) probably benign Het
Chd9 T A 8: 91,721,078 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,000 (GRCm39) K372M possibly damaging Het
Clasp2 A G 9: 113,738,487 (GRCm39) T423A probably benign Het
Col11a1 A G 3: 113,999,550 (GRCm39) probably benign Het
Col27a1 T C 4: 63,143,848 (GRCm39) M512T possibly damaging Het
Dclk3 A G 9: 111,314,003 (GRCm39) D693G probably damaging Het
Dcun1d3 T A 7: 119,457,173 (GRCm39) K180* probably null Het
Dmxl2 T C 9: 54,324,235 (GRCm39) R876G probably benign Het
Dnmbp A T 19: 43,843,296 (GRCm39) Y432* probably null Het
Elapor2 G T 5: 9,490,966 (GRCm39) G659* probably null Het
Faap100 A C 11: 120,264,702 (GRCm39) probably benign Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gda A G 19: 21,394,471 (GRCm39) Y129H probably damaging Het
Gga3 G A 11: 115,481,350 (GRCm39) R207C probably damaging Het
Glg1 T C 8: 111,909,201 (GRCm39) I496M probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10322 A T 10: 59,452,030 (GRCm39) H49L possibly damaging Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Gramd2b G A 18: 56,607,141 (GRCm39) C85Y probably benign Het
Grhl1 C T 12: 24,632,918 (GRCm39) P153L probably benign Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hdlbp T C 1: 93,353,054 (GRCm39) I414V probably damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Lipe G A 7: 25,097,913 (GRCm39) P10L probably benign Het
Lrrc8a A G 2: 30,147,079 (GRCm39) E631G probably damaging Het
Lvrn T A 18: 47,038,366 (GRCm39) N973K possibly damaging Het
Man2c1 T A 9: 57,042,881 (GRCm39) H250Q probably damaging Het
Mup3 T C 4: 62,003,519 (GRCm39) T117A probably benign Het
Myo6 A C 9: 80,181,256 (GRCm39) probably benign Het
Nbn T A 4: 15,983,951 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,770 (GRCm39) N157K probably damaging Het
Or4p7 C T 2: 88,222,377 (GRCm39) T262I probably damaging Het
Or5an1 T A 19: 12,261,267 (GRCm39) M285K probably damaging Het
Or5m12 T A 2: 85,734,501 (GRCm39) N299I probably damaging Het
Or5w14 G A 2: 87,541,774 (GRCm39) H159Y probably benign Het
Or9m1 T C 2: 87,733,304 (GRCm39) T239A probably damaging Het
P4ha1 T A 10: 59,184,079 (GRCm39) Y180* probably null Het
Pcdhb19 T A 18: 37,632,588 (GRCm39) F794L probably benign Het
Pdxdc1 T A 16: 13,672,264 (GRCm39) I379F probably damaging Het
Psme3 T A 11: 101,211,268 (GRCm39) S185T possibly damaging Het
Ptgr1 A G 4: 58,978,045 (GRCm39) S116P probably damaging Het
Ptpn23 A T 9: 110,218,078 (GRCm39) probably null Het
Rabgap1l A C 1: 160,549,775 (GRCm39) I277R probably benign Het
Rapgef1 C T 2: 29,569,828 (GRCm39) T93I possibly damaging Het
Rbp3 A T 14: 33,676,730 (GRCm39) D226V probably damaging Het
Rnf144a A T 12: 26,389,328 (GRCm39) C38S probably damaging Het
Rptor C T 11: 119,671,379 (GRCm39) Q281* probably null Het
Rragd T C 4: 33,004,332 (GRCm39) L208S probably damaging Het
Slc12a4 T C 8: 106,686,120 (GRCm39) E41G probably damaging Het
Slc16a1 G T 3: 104,560,735 (GRCm39) V347F probably benign Het
Slit1 G A 19: 41,731,732 (GRCm39) T39I probably damaging Het
Sra1 T C 18: 36,810,556 (GRCm39) N98S probably benign Het
Ssx2ip T C 3: 146,132,184 (GRCm39) L215P probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Tep1 TTTCTTCTTCTT TTTCTTCTT 14: 51,104,280 (GRCm39) probably benign Het
Tgfbi T C 13: 56,780,004 (GRCm39) probably benign Het
Tmem232 T C 17: 65,563,498 (GRCm39) M632V probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnnt3 T G 7: 142,065,823 (GRCm39) D153E probably benign Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Tpsab1 A G 17: 25,562,798 (GRCm39) probably benign Het
Usp34 T A 11: 23,351,505 (GRCm39) V1431D probably damaging Het
Wdr49 G T 3: 75,357,329 (GRCm39) R285S possibly damaging Het
Wdr7 A G 18: 63,929,320 (GRCm39) Y1052C probably damaging Het
Zan A T 5: 137,380,578 (GRCm39) probably benign Het
Zfp652 G A 11: 95,654,565 (GRCm39) V323I possibly damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zfp874b A G 13: 67,629,955 (GRCm39) S10P probably damaging Het
Zmynd19 A G 2: 24,848,134 (GRCm39) Y110C probably benign Het
Other mutations in Eml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Eml2 APN 7 18,940,068 (GRCm39) missense probably damaging 1.00
IGL00786:Eml2 APN 7 18,936,507 (GRCm39) missense probably damaging 1.00
IGL01084:Eml2 APN 7 18,924,663 (GRCm39) nonsense probably null
IGL01132:Eml2 APN 7 18,934,464 (GRCm39) missense probably damaging 1.00
IGL01678:Eml2 APN 7 18,920,047 (GRCm39) missense probably benign 0.38
IGL01800:Eml2 APN 7 18,935,122 (GRCm39) intron probably benign
IGL02517:Eml2 APN 7 18,940,055 (GRCm39) missense probably damaging 1.00
IGL02607:Eml2 APN 7 18,940,036 (GRCm39) missense probably damaging 1.00
IGL02676:Eml2 APN 7 18,918,846 (GRCm39) nonsense probably null
IGL03082:Eml2 APN 7 18,935,802 (GRCm39) missense probably damaging 1.00
puffery UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R0628_Eml2_697 UTSW 7 18,935,479 (GRCm39) splice site probably benign
R0040:Eml2 UTSW 7 18,930,539 (GRCm39) missense possibly damaging 0.48
R0135:Eml2 UTSW 7 18,937,877 (GRCm39) missense probably damaging 1.00
R0240:Eml2 UTSW 7 18,918,797 (GRCm39) nonsense probably null
R0240:Eml2 UTSW 7 18,918,797 (GRCm39) nonsense probably null
R0362:Eml2 UTSW 7 18,924,731 (GRCm39) splice site probably null
R0387:Eml2 UTSW 7 18,916,184 (GRCm39) splice site probably null
R0614:Eml2 UTSW 7 18,936,516 (GRCm39) missense probably damaging 1.00
R0628:Eml2 UTSW 7 18,935,479 (GRCm39) splice site probably benign
R1078:Eml2 UTSW 7 18,913,687 (GRCm39) missense probably benign 0.24
R1531:Eml2 UTSW 7 18,930,179 (GRCm39) missense probably damaging 1.00
R1856:Eml2 UTSW 7 18,927,986 (GRCm39) missense probably damaging 0.97
R1864:Eml2 UTSW 7 18,935,803 (GRCm39) missense probably damaging 1.00
R1937:Eml2 UTSW 7 18,937,889 (GRCm39) missense possibly damaging 0.68
R2032:Eml2 UTSW 7 18,936,480 (GRCm39) missense probably benign 0.03
R2185:Eml2 UTSW 7 18,927,953 (GRCm39) missense probably damaging 1.00
R2419:Eml2 UTSW 7 18,910,620 (GRCm39) unclassified probably benign
R3821:Eml2 UTSW 7 18,936,911 (GRCm39) missense possibly damaging 0.94
R4199:Eml2 UTSW 7 18,913,364 (GRCm39) missense probably benign 0.00
R4411:Eml2 UTSW 7 18,916,326 (GRCm39) critical splice donor site probably null
R4497:Eml2 UTSW 7 18,913,275 (GRCm39) missense probably damaging 1.00
R4885:Eml2 UTSW 7 18,937,935 (GRCm39) missense probably benign 0.05
R4912:Eml2 UTSW 7 18,927,924 (GRCm39) splice site probably null
R5028:Eml2 UTSW 7 18,913,372 (GRCm39) critical splice donor site probably null
R5192:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5196:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5373:Eml2 UTSW 7 18,913,188 (GRCm39) missense possibly damaging 0.92
R5718:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5719:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5720:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5727:Eml2 UTSW 7 18,924,685 (GRCm39) missense probably damaging 0.99
R5841:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5842:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5843:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R5844:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6014:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6015:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6017:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6073:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6075:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6126:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6128:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6129:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6189:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6190:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6258:Eml2 UTSW 7 18,913,289 (GRCm39) splice site probably null
R6273:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6289:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6376:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6378:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6381:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6384:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6394:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6435:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6436:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6437:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6476:Eml2 UTSW 7 18,930,236 (GRCm39) missense probably benign 0.26
R6550:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6551:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6552:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6554:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6572:Eml2 UTSW 7 18,930,539 (GRCm39) missense possibly damaging 0.48
R6598:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6599:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6704:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6705:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6709:Eml2 UTSW 7 18,940,136 (GRCm39) makesense probably null
R6730:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6734:Eml2 UTSW 7 18,934,432 (GRCm39) missense probably benign 0.35
R6742:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6769:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6770:Eml2 UTSW 7 18,935,088 (GRCm39) missense probably damaging 1.00
R6864:Eml2 UTSW 7 18,930,206 (GRCm39) missense probably damaging 0.99
R6878:Eml2 UTSW 7 18,934,537 (GRCm39) missense probably benign 0.08
R7045:Eml2 UTSW 7 18,935,504 (GRCm39) missense probably damaging 1.00
R7260:Eml2 UTSW 7 18,934,515 (GRCm39) missense probably benign 0.45
R7478:Eml2 UTSW 7 18,940,066 (GRCm39) nonsense probably null
R7706:Eml2 UTSW 7 18,920,035 (GRCm39) missense possibly damaging 0.79
R7811:Eml2 UTSW 7 18,920,047 (GRCm39) missense probably benign 0.38
R8084:Eml2 UTSW 7 18,915,149 (GRCm39) critical splice donor site probably null
R8337:Eml2 UTSW 7 18,930,161 (GRCm39) missense possibly damaging 0.84
R8414:Eml2 UTSW 7 18,913,220 (GRCm39) missense probably damaging 1.00
R8868:Eml2 UTSW 7 18,927,988 (GRCm39) missense probably benign 0.03
R8934:Eml2 UTSW 7 18,913,738 (GRCm39) missense probably damaging 0.99
R9110:Eml2 UTSW 7 18,925,620 (GRCm39) missense probably benign 0.07
R9131:Eml2 UTSW 7 18,918,751 (GRCm39) missense
R9144:Eml2 UTSW 7 18,935,564 (GRCm39) missense possibly damaging 0.75
R9261:Eml2 UTSW 7 18,913,743 (GRCm39) missense probably benign 0.45
R9285:Eml2 UTSW 7 18,925,568 (GRCm39) missense probably damaging 0.98
R9767:Eml2 UTSW 7 18,920,083 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAAGAAGATGAACTGGCGGTCC -3'
(R):5'- TAGCCCTGTTCTTCAGCAAGGTCC -3'

Sequencing Primer
(F):5'- TGAACTGGCGGTCCTAAAG -3'
(R):5'- TCTTCAGCAAGGTCCGAGAG -3'
Posted On 2013-05-23