Incidental Mutation 'R2180:Enah'
ID 237098
Institutional Source Beutler Lab
Gene Symbol Enah
Ensembl Gene ENSMUSG00000022995
Gene Name ENAH actin regulator
Synonyms Mena, Ndpp1
MMRRC Submission 040182-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.785) question?
Stock # R2180 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 181723949-181847555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 181746024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 419 (M419K)
Ref Sequence ENSEMBL: ENSMUSP00000141462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078719] [ENSMUST00000111024] [ENSMUST00000111025] [ENSMUST00000111030] [ENSMUST00000177811] [ENSMUST00000192967] [ENSMUST00000193074] [ENSMUST00000195059] [ENSMUST00000193703]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000078719
AA Change: M682K
SMART Domains Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: M682K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 154 258 N/A INTRINSIC
low complexity region 274 285 N/A INTRINSIC
low complexity region 308 317 N/A INTRINSIC
internal_repeat_1 354 366 4.73e-6 PROSPERO
low complexity region 373 392 N/A INTRINSIC
low complexity region 398 420 N/A INTRINSIC
low complexity region 430 471 N/A INTRINSIC
low complexity region 487 507 N/A INTRINSIC
low complexity region 542 609 N/A INTRINSIC
low complexity region 665 678 N/A INTRINSIC
internal_repeat_1 746 758 4.73e-6 PROSPERO
Pfam:VASP_tetra 765 801 1.7e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000111024
AA Change: M419K
SMART Domains Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: M419K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 135 239 N/A INTRINSIC
low complexity region 255 266 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
internal_repeat_1 335 347 3.85e-6 PROSPERO
low complexity region 354 373 N/A INTRINSIC
low complexity region 379 401 N/A INTRINSIC
low complexity region 411 452 N/A INTRINSIC
low complexity region 468 488 N/A INTRINSIC
low complexity region 523 590 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
internal_repeat_1 727 739 3.85e-6 PROSPERO
Pfam:VASP_tetra 745 784 1.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111025
AA Change: M385K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: M385K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 135 240 N/A INTRINSIC
low complexity region 279 313 N/A INTRINSIC
low complexity region 368 381 N/A INTRINSIC
Pfam:VASP_tetra 467 506 2.3e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000111030
AA Change: M667K
SMART Domains Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: M667K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 139 243 N/A INTRINSIC
low complexity region 259 270 N/A INTRINSIC
low complexity region 293 302 N/A INTRINSIC
internal_repeat_1 339 351 3.87e-6 PROSPERO
low complexity region 358 377 N/A INTRINSIC
low complexity region 383 405 N/A INTRINSIC
low complexity region 415 456 N/A INTRINSIC
low complexity region 472 492 N/A INTRINSIC
low complexity region 527 594 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
internal_repeat_1 731 743 3.87e-6 PROSPERO
Pfam:VASP_tetra 749 788 1.4e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000177811
AA Change: M667K
SMART Domains Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: M667K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 139 243 N/A INTRINSIC
low complexity region 259 270 N/A INTRINSIC
low complexity region 293 302 N/A INTRINSIC
internal_repeat_1 339 351 4.25e-6 PROSPERO
low complexity region 358 377 N/A INTRINSIC
low complexity region 383 405 N/A INTRINSIC
low complexity region 415 456 N/A INTRINSIC
low complexity region 472 492 N/A INTRINSIC
low complexity region 527 594 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
internal_repeat_1 731 743 4.25e-6 PROSPERO
Pfam:VASP_tetra 749 788 2.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192967
SMART Domains Protein: ENSMUSP00000141330
Gene: ENSMUSG00000022995

DomainStartEndE-ValueType
SCOP:d1fxkc_ 3 63 1e-3 SMART
low complexity region 70 99 N/A INTRINSIC
low complexity region 118 138 N/A INTRINSIC
low complexity region 173 229 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193074
AA Change: M402K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995
AA Change: M402K

DomainStartEndE-ValueType
RanBD 7 127 1.5e-4 SMART
WH1 21 128 2.8e-47 SMART
coiled coil region 155 260 N/A INTRINSIC
low complexity region 262 329 N/A INTRINSIC
low complexity region 385 398 N/A INTRINSIC
Pfam:VASP_tetra 484 523 1.8e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000195059
AA Change: M663K
SMART Domains Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: M663K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 135 239 N/A INTRINSIC
low complexity region 255 266 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
internal_repeat_1 335 347 3.85e-6 PROSPERO
low complexity region 354 373 N/A INTRINSIC
low complexity region 379 401 N/A INTRINSIC
low complexity region 411 452 N/A INTRINSIC
low complexity region 468 488 N/A INTRINSIC
low complexity region 523 590 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
internal_repeat_1 727 739 3.85e-6 PROSPERO
Pfam:VASP_tetra 745 784 1.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193703
AA Change: M419K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: M419K

DomainStartEndE-ValueType
RanBD 1 107 1.86e-1 SMART
WH1 1 108 3.02e-46 SMART
coiled coil region 135 240 N/A INTRINSIC
low complexity region 279 346 N/A INTRINSIC
low complexity region 402 415 N/A INTRINSIC
Pfam:VASP_tetra 501 540 2.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195788
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a targeted mutation show defects in major axonal projection pathways in brain, including malformation of the hippocampal commissure and pontocerebellar fibers and frequent agenesis of the corpus callosum due to a failure of axons to project across the midline during development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,684,812 (GRCm39) D377G probably damaging Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Anxa9 T C 3: 95,213,735 (GRCm39) probably null Het
Aox4 A T 1: 58,252,226 (GRCm39) T34S probably benign Het
Asic1 G T 15: 99,569,846 (GRCm39) V56F probably benign Het
Atpaf1 T C 4: 115,645,557 (GRCm39) M1T probably null Het
Axin1 A G 17: 26,362,309 (GRCm39) T218A probably benign Het
Bdp1 ATTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTC 13: 100,197,913 (GRCm39) probably benign Het
Birc6 T C 17: 74,919,146 (GRCm39) I1988T probably benign Het
Btbd7 A T 12: 102,752,156 (GRCm39) D869E probably damaging Het
Caln1 T C 5: 130,868,249 (GRCm39) *220Q probably null Het
Ccdc150 G A 1: 54,311,706 (GRCm39) probably null Het
Ccnt1 A T 15: 98,441,481 (GRCm39) S596T possibly damaging Het
Cd44 C T 2: 102,658,955 (GRCm39) G640E possibly damaging Het
Cep192 A G 18: 67,957,813 (GRCm39) E582G possibly damaging Het
Clcnkb G T 4: 141,136,819 (GRCm39) probably null Het
Dhx29 T C 13: 113,099,406 (GRCm39) probably null Het
Dnah8 T C 17: 31,059,621 (GRCm39) F4407S probably benign Het
Fancd2 A T 6: 113,551,598 (GRCm39) T1055S probably benign Het
Gigyf2 G A 1: 87,344,642 (GRCm39) G525D probably damaging Het
Gm5800 T A 14: 51,953,451 (GRCm39) K55* probably null Het
Gpr149 A G 3: 62,511,489 (GRCm39) L170P probably damaging Het
Grik4 A T 9: 42,453,301 (GRCm39) Y695N probably benign Het
Gsg1 A T 6: 135,217,143 (GRCm39) V228D probably damaging Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Helz2 A T 2: 180,875,525 (GRCm39) D1656E probably damaging Het
Hyou1 A T 9: 44,299,316 (GRCm39) K669M probably benign Het
Itga2 T C 13: 114,985,917 (GRCm39) N953D possibly damaging Het
Ldhd T C 8: 112,356,018 (GRCm39) I122V probably benign Het
Lrrtm1 A G 6: 77,221,329 (GRCm39) D262G probably damaging Het
Mapkapk5 T C 5: 121,673,927 (GRCm39) probably null Het
Msantd5l C A 11: 51,145,437 (GRCm39) W50L probably damaging Het
Niban1 A T 1: 151,593,829 (GRCm39) H838L probably benign Het
Numa1 T C 7: 101,649,197 (GRCm39) I976T probably benign Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or2a12 C T 6: 42,904,459 (GRCm39) T98I probably benign Het
Or4f14b A G 2: 111,775,348 (GRCm39) V151A probably benign Het
Or52e4 T C 7: 104,706,092 (GRCm39) I213T probably benign Het
Patj G A 4: 98,411,739 (GRCm39) probably null Het
Pfas T C 11: 68,883,013 (GRCm39) D757G possibly damaging Het
Pom121l2 A G 13: 22,166,145 (GRCm39) N139D probably benign Het
Ppp2r3d A T 9: 101,004,214 (GRCm39) Y994* probably null Het
Ppp6c T C 2: 39,087,525 (GRCm39) D227G probably benign Het
Ptpn13 T G 5: 103,717,424 (GRCm39) H1855Q probably damaging Het
Ptprh T A 7: 4,604,867 (GRCm39) Q59L probably benign Het
Rap1gap2 T C 11: 74,283,972 (GRCm39) K669E probably benign Het
Rbl2 T C 8: 91,816,683 (GRCm39) S348P possibly damaging Het
Rptor T A 11: 119,615,970 (GRCm39) N161K probably damaging Het
Satb1 C T 17: 52,110,524 (GRCm39) A192T probably damaging Het
Scn5a A G 9: 119,345,117 (GRCm39) V1083A probably benign Het
Sec14l2 C T 11: 4,058,964 (GRCm39) A194T probably damaging Het
Sema4b A G 7: 79,862,583 (GRCm39) N53S probably benign Het
Sin3b T A 8: 73,479,923 (GRCm39) Y876* probably null Het
Smchd1 C A 17: 71,770,794 (GRCm39) M129I probably benign Het
Spmip6 T A 4: 41,507,170 (GRCm39) M209L probably benign Het
Tmc1 T C 19: 20,801,448 (GRCm39) Y484C probably damaging Het
Utp20 A G 10: 88,656,801 (GRCm39) S135P probably damaging Het
Zfp266 A T 9: 20,410,975 (GRCm39) C401S probably damaging Het
Zfp738 G A 13: 67,819,313 (GRCm39) T226I probably damaging Het
Zfp871 G A 17: 32,994,275 (GRCm39) T300M probably damaging Het
Other mutations in Enah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Enah APN 1 181,763,261 (GRCm39) intron probably benign
IGL01996:Enah APN 1 181,784,070 (GRCm39) missense unknown
R0025:Enah UTSW 1 181,740,938 (GRCm39) missense possibly damaging 0.53
R0612:Enah UTSW 1 181,734,013 (GRCm39) splice site probably benign
R1005:Enah UTSW 1 181,789,495 (GRCm39) splice site probably benign
R1075:Enah UTSW 1 181,784,066 (GRCm39) missense unknown
R1589:Enah UTSW 1 181,749,858 (GRCm39) missense probably damaging 1.00
R1601:Enah UTSW 1 181,747,185 (GRCm39) nonsense probably null
R1607:Enah UTSW 1 181,744,762 (GRCm39) critical splice donor site probably null
R1785:Enah UTSW 1 181,783,994 (GRCm39) missense unknown
R2035:Enah UTSW 1 181,749,537 (GRCm39) missense probably damaging 1.00
R2037:Enah UTSW 1 181,749,537 (GRCm39) missense probably damaging 1.00
R2119:Enah UTSW 1 181,749,318 (GRCm39) missense probably damaging 0.98
R2233:Enah UTSW 1 181,749,537 (GRCm39) missense probably damaging 1.00
R4348:Enah UTSW 1 181,749,985 (GRCm39) missense possibly damaging 0.94
R4350:Enah UTSW 1 181,749,985 (GRCm39) missense possibly damaging 0.94
R4576:Enah UTSW 1 181,747,128 (GRCm39) missense possibly damaging 0.79
R4956:Enah UTSW 1 181,745,854 (GRCm39) missense probably damaging 0.98
R5230:Enah UTSW 1 181,763,235 (GRCm39) intron probably benign
R5282:Enah UTSW 1 181,763,293 (GRCm39) splice site probably null
R5505:Enah UTSW 1 181,734,018 (GRCm39) splice site probably benign
R5813:Enah UTSW 1 181,758,750 (GRCm39) intron probably benign
R6324:Enah UTSW 1 181,746,136 (GRCm39) missense probably damaging 1.00
R6374:Enah UTSW 1 181,751,145 (GRCm39) missense unknown
R6503:Enah UTSW 1 181,746,076 (GRCm39) missense probably damaging 1.00
R6513:Enah UTSW 1 181,841,920 (GRCm39) intron probably benign
R6925:Enah UTSW 1 181,733,464 (GRCm39) critical splice acceptor site probably null
R6925:Enah UTSW 1 181,733,463 (GRCm39) critical splice acceptor site probably null
R7184:Enah UTSW 1 181,749,957 (GRCm39) missense probably damaging 0.99
R7308:Enah UTSW 1 181,733,950 (GRCm39) critical splice donor site probably null
R7453:Enah UTSW 1 181,789,470 (GRCm39) missense unknown
R7759:Enah UTSW 1 181,746,009 (GRCm39) missense unknown
R9060:Enah UTSW 1 181,749,817 (GRCm39) missense probably damaging 1.00
R9137:Enah UTSW 1 181,739,160 (GRCm39) critical splice donor site probably null
R9335:Enah UTSW 1 181,749,450 (GRCm39) missense probably damaging 1.00
R9458:Enah UTSW 1 181,746,107 (GRCm39) missense unknown
R9759:Enah UTSW 1 181,841,911 (GRCm39) missense unknown
RF024:Enah UTSW 1 181,749,499 (GRCm39) frame shift probably null
RF032:Enah UTSW 1 181,749,494 (GRCm39) frame shift probably null
RF038:Enah UTSW 1 181,749,500 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CTTCACATGCGTCTCTGAATG -3'
(R):5'- AAGTCCATGTTATTCACTCTCTTGG -3'

Sequencing Primer
(F):5'- CACATGCGTCTCTGAATGAACTGAG -3'
(R):5'- TGGAATCAATAACATGTTCTTCTGTG -3'
Posted On 2014-10-02