Incidental Mutation 'R8427:Eml1'
ID 653546
Institutional Source Beutler Lab
Gene Symbol Eml1
Ensembl Gene ENSMUSG00000058070
Gene Name echinoderm microtubule associated protein like 1
Synonyms 1110008N23Rik, heco, A930030P13Rik, ELP79
MMRRC Submission 067821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R8427 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 108337265-108505835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108496580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 612 (T612K)
Ref Sequence ENSEMBL: ENSMUSP00000105486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054955] [ENSMUST00000109857] [ENSMUST00000109860] [ENSMUST00000130999]
AlphaFold Q05BC3
Predicted Effect probably damaging
Transcript: ENSMUST00000054955
AA Change: T581K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057209
Gene: ENSMUSG00000058070
AA Change: T581K

DomainStartEndE-ValueType
coiled coil region 1 41 N/A INTRINSIC
low complexity region 72 84 N/A INTRINSIC
low complexity region 119 146 N/A INTRINSIC
WD40 228 277 5.6e-3 SMART
WD40 280 325 2.21e1 SMART
WD40 328 367 4.46e-1 SMART
WD40 375 413 5.73e0 SMART
WD40 416 456 5.75e-1 SMART
WD40 496 539 4.24e-3 SMART
WD40 542 580 1.37e2 SMART
WD40 583 622 1.7e-2 SMART
WD40 629 668 1.58e-2 SMART
Blast:WD40 694 735 7e-20 BLAST
WD40 741 781 2.96e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109857
AA Change: T598K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105483
Gene: ENSMUSG00000058070
AA Change: T598K

DomainStartEndE-ValueType
coiled coil region 1 41 N/A INTRINSIC
low complexity region 72 84 N/A INTRINSIC
low complexity region 119 146 N/A INTRINSIC
WD40 245 294 5.6e-3 SMART
WD40 297 342 2.21e1 SMART
WD40 345 384 4.46e-1 SMART
WD40 392 430 5.73e0 SMART
WD40 433 473 5.75e-1 SMART
WD40 513 556 4.24e-3 SMART
WD40 559 597 1.37e2 SMART
WD40 600 639 1.7e-2 SMART
WD40 646 685 1.58e-2 SMART
Blast:WD40 711 752 7e-20 BLAST
WD40 758 798 2.96e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109860
AA Change: T612K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105486
Gene: ENSMUSG00000058070
AA Change: T612K

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
coiled coil region 31 72 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 150 177 N/A INTRINSIC
Pfam:HELP 184 258 1.8e-35 PFAM
WD40 259 308 5.6e-3 SMART
WD40 311 356 2.21e1 SMART
WD40 359 398 4.46e-1 SMART
WD40 406 444 5.73e0 SMART
WD40 447 487 5.75e-1 SMART
WD40 527 570 4.24e-3 SMART
WD40 573 611 1.37e2 SMART
WD40 614 653 1.7e-2 SMART
WD40 660 699 1.58e-2 SMART
Blast:WD40 725 766 7e-20 BLAST
WD40 772 812 2.96e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130999
AA Change: T612K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118325
Gene: ENSMUSG00000058070
AA Change: T612K

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
coiled coil region 31 72 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 150 177 N/A INTRINSIC
WD40 259 308 5.6e-3 SMART
WD40 311 356 2.21e1 SMART
WD40 359 398 4.46e-1 SMART
WD40 406 444 5.73e0 SMART
WD40 447 487 5.75e-1 SMART
WD40 527 570 4.24e-3 SMART
WD40 573 611 1.37e2 SMART
WD40 614 653 1.7e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik G T 12: 72,950,060 (GRCm39) S271R possibly damaging Het
Adrb2 A G 18: 62,312,345 (GRCm39) V160A possibly damaging Het
Atp13a5 T C 16: 29,167,820 (GRCm39) D113G possibly damaging Het
B4galt7 T A 13: 55,757,138 (GRCm39) V312D possibly damaging Het
Bccip A G 7: 133,311,220 (GRCm39) D45G probably benign Het
Bcl2l2 A G 14: 55,122,860 (GRCm39) Y151C probably damaging Het
Ccdc146 T C 5: 21,604,790 (GRCm39) E16G unknown Het
Cdr2l C A 11: 115,284,865 (GRCm39) D400E probably damaging Het
Celsr2 A C 3: 108,299,949 (GRCm39) *2920E probably null Het
Cib1 A G 7: 79,877,749 (GRCm39) F183L probably damaging Het
Cnot1 A G 8: 96,460,952 (GRCm39) Y1716H probably benign Het
Copb1 A G 7: 113,825,989 (GRCm39) V665A probably benign Het
Crmp1 C T 5: 37,448,539 (GRCm39) T683I probably damaging Het
Cubn G C 2: 13,433,567 (GRCm39) F1114L probably benign Het
Dab2 A T 15: 6,458,840 (GRCm39) R251* probably null Het
Ddx28 A G 8: 106,736,912 (GRCm39) V382A probably benign Het
Hoxb3 CGGCGGTGGCGG CGGCGGTGGCGGTGGCGG 11: 96,236,415 (GRCm39) probably benign Het
Hoxb3 TGGCGG TGGCGGAGGCGG 11: 96,236,421 (GRCm39) probably benign Het
Iapp T A 6: 142,244,612 (GRCm39) I13N probably damaging Het
Ifit1bl1 A T 19: 34,576,666 (GRCm39) probably null Het
Itgb4 T A 11: 115,882,544 (GRCm39) probably null Het
Kcnh3 T C 15: 99,124,934 (GRCm39) V128A probably benign Het
Kmt2a A G 9: 44,756,720 (GRCm39) F1176L probably damaging Het
Lifr A G 15: 7,220,462 (GRCm39) T1031A probably benign Het
Lrp2 T C 2: 69,281,641 (GRCm39) D3910G probably damaging Het
Man1a2 A T 3: 100,592,001 (GRCm39) S60T probably benign Het
Mdh1 C T 11: 21,514,138 (GRCm39) R93K probably benign Het
Mical1 G T 10: 41,354,591 (GRCm39) K142N probably damaging Het
Nf2 T A 11: 4,741,118 (GRCm39) E365D probably benign Het
Nfrkb A G 9: 31,330,323 (GRCm39) M1192V probably benign Het
Npas4 A C 19: 5,036,108 (GRCm39) D685E probably benign Het
Or11h4b T A 14: 50,918,606 (GRCm39) I162F probably damaging Het
Or12k5 G T 2: 36,894,794 (GRCm39) Y277* probably null Het
Or4f4-ps1 A G 2: 111,330,310 (GRCm39) T238A probably damaging Het
Ovch2 G A 7: 107,393,207 (GRCm39) T222I probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pld1 A T 3: 28,142,795 (GRCm39) I668F probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppa1 A G 10: 61,496,704 (GRCm39) D64G possibly damaging Het
Rnf133 T C 6: 23,649,405 (GRCm39) I175V probably benign Het
Rpp30 A G 19: 36,071,812 (GRCm39) I127V probably benign Het
Scube2 T A 7: 109,399,797 (GRCm39) H913L probably damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Skida1 A T 2: 18,051,402 (GRCm39) N496K unknown Het
Slc29a2 A T 19: 5,080,448 (GRCm39) I397F probably benign Het
Slc38a2 G T 15: 96,590,294 (GRCm39) R316S probably damaging Het
Slc40a1 A C 1: 45,951,498 (GRCm39) Y220D probably damaging Het
Strc T G 2: 121,208,012 (GRCm39) H453P probably damaging Het
Tmprss3 T A 17: 31,407,358 (GRCm39) I312F probably damaging Het
Tnn G A 1: 159,958,256 (GRCm39) T529I probably damaging Het
Tnr A T 1: 159,713,801 (GRCm39) D743V possibly damaging Het
Trim42 A T 9: 97,245,174 (GRCm39) F542Y probably benign Het
Trpm2 A T 10: 77,747,236 (GRCm39) Y1421N possibly damaging Het
Ttn T C 2: 76,576,901 (GRCm39) E24664G probably damaging Het
Ube2q2 T C 9: 55,092,250 (GRCm39) probably null Het
Unc79 A T 12: 103,045,297 (GRCm39) R824S probably benign Het
V1ra8 A G 6: 90,180,559 (GRCm39) D254G probably damaging Het
Vmn1r173 A T 7: 23,401,959 (GRCm39) I65F probably damaging Het
Vmn2r16 T A 5: 109,488,138 (GRCm39) M337K probably benign Het
Wfs1 C A 5: 37,125,431 (GRCm39) G487C probably damaging Het
Xdh T C 17: 74,242,926 (GRCm39) Y127C probably damaging Het
Zfp229 T C 17: 21,965,815 (GRCm39) S682P probably damaging Het
Zscan4-ps1 A T 7: 10,802,447 (GRCm39) D117E possibly damaging Het
Other mutations in Eml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Eml1 APN 12 108,480,774 (GRCm39) splice site probably null
IGL00774:Eml1 APN 12 108,480,774 (GRCm39) splice site probably null
IGL01358:Eml1 APN 12 108,480,727 (GRCm39) missense probably benign 0.05
IGL02316:Eml1 APN 12 108,501,018 (GRCm39) intron probably benign
IGL02346:Eml1 APN 12 108,503,700 (GRCm39) missense possibly damaging 0.87
IGL02480:Eml1 APN 12 108,487,955 (GRCm39) missense probably benign 0.32
IGL02513:Eml1 APN 12 108,496,571 (GRCm39) missense probably damaging 1.00
IGL02556:Eml1 APN 12 108,503,625 (GRCm39) missense probably benign 0.00
IGL02565:Eml1 APN 12 108,472,779 (GRCm39) missense probably damaging 1.00
IGL03217:Eml1 APN 12 108,501,201 (GRCm39) missense probably benign 0.31
bubble UTSW 12 108,479,330 (GRCm39) critical splice donor site probably null
R0027:Eml1 UTSW 12 108,502,557 (GRCm39) missense possibly damaging 0.90
R0067:Eml1 UTSW 12 108,429,786 (GRCm39) missense possibly damaging 0.61
R0124:Eml1 UTSW 12 108,475,437 (GRCm39) missense probably damaging 1.00
R0124:Eml1 UTSW 12 108,472,867 (GRCm39) missense probably benign 0.00
R0730:Eml1 UTSW 12 108,496,585 (GRCm39) missense possibly damaging 0.79
R1566:Eml1 UTSW 12 108,438,151 (GRCm39) missense probably damaging 0.99
R1883:Eml1 UTSW 12 108,429,911 (GRCm39) missense probably damaging 0.97
R1927:Eml1 UTSW 12 108,504,476 (GRCm39) nonsense probably null
R1938:Eml1 UTSW 12 108,487,655 (GRCm39) missense possibly damaging 0.75
R2070:Eml1 UTSW 12 108,479,258 (GRCm39) missense probably damaging 1.00
R2311:Eml1 UTSW 12 108,503,675 (GRCm39) missense probably damaging 0.99
R2417:Eml1 UTSW 12 108,502,534 (GRCm39) missense probably benign 0.00
R3120:Eml1 UTSW 12 108,479,312 (GRCm39) missense probably benign 0.31
R4352:Eml1 UTSW 12 108,501,096 (GRCm39) intron probably benign
R4471:Eml1 UTSW 12 108,472,894 (GRCm39) intron probably benign
R4655:Eml1 UTSW 12 108,500,972 (GRCm39) missense probably damaging 1.00
R5077:Eml1 UTSW 12 108,472,871 (GRCm39) splice site probably benign
R5094:Eml1 UTSW 12 108,502,570 (GRCm39) missense probably benign 0.11
R5113:Eml1 UTSW 12 108,503,596 (GRCm39) missense possibly damaging 0.74
R5524:Eml1 UTSW 12 108,487,635 (GRCm39) missense probably damaging 0.99
R5775:Eml1 UTSW 12 108,472,813 (GRCm39) missense probably damaging 1.00
R6120:Eml1 UTSW 12 108,493,983 (GRCm39) missense probably damaging 1.00
R6224:Eml1 UTSW 12 108,480,767 (GRCm39) missense probably damaging 1.00
R6491:Eml1 UTSW 12 108,479,330 (GRCm39) critical splice donor site probably null
R7035:Eml1 UTSW 12 108,475,493 (GRCm39) missense probably damaging 1.00
R7134:Eml1 UTSW 12 108,472,810 (GRCm39) missense probably benign 0.00
R7273:Eml1 UTSW 12 108,504,432 (GRCm39) missense possibly damaging 0.87
R7606:Eml1 UTSW 12 108,503,625 (GRCm39) missense probably benign 0.45
R7744:Eml1 UTSW 12 108,482,863 (GRCm39) missense probably benign
R7820:Eml1 UTSW 12 108,481,433 (GRCm39) missense possibly damaging 0.81
R8013:Eml1 UTSW 12 108,487,938 (GRCm39) missense probably benign 0.18
R8223:Eml1 UTSW 12 108,502,569 (GRCm39) missense probably benign 0.00
R8258:Eml1 UTSW 12 108,476,458 (GRCm39) missense probably damaging 0.97
R8259:Eml1 UTSW 12 108,476,458 (GRCm39) missense probably damaging 0.97
R8399:Eml1 UTSW 12 108,504,390 (GRCm39) missense possibly damaging 0.91
R9002:Eml1 UTSW 12 108,504,438 (GRCm39) missense probably damaging 1.00
R9220:Eml1 UTSW 12 108,480,702 (GRCm39) nonsense probably null
R9432:Eml1 UTSW 12 108,482,842 (GRCm39) missense probably benign 0.00
R9446:Eml1 UTSW 12 108,481,465 (GRCm39) missense probably damaging 0.98
R9500:Eml1 UTSW 12 108,493,958 (GRCm39) missense probably damaging 1.00
Z1088:Eml1 UTSW 12 108,503,718 (GRCm39) missense possibly damaging 0.80
Z1177:Eml1 UTSW 12 108,500,915 (GRCm39) missense probably damaging 1.00
Z1177:Eml1 UTSW 12 108,389,398 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCGAGCGTTTGTCAATATCCTG -3'
(R):5'- TGCACAGTGACGAAAAGGTTC -3'

Sequencing Primer
(F):5'- TCAATATCCTGTTCCTTTCTGTAGAG -3'
(R):5'- GCTGTCTAGTGAGCCCTACACAC -3'
Posted On 2020-10-20