Incidental Mutation 'R6374:Enah'
ID 513660
Institutional Source Beutler Lab
Gene Symbol Enah
Ensembl Gene ENSMUSG00000022995
Gene Name ENAH actin regulator
Synonyms Mena, Ndpp1
MMRRC Submission 044524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.756) question?
Stock # R6374 (G1)
Quality Score 208.009
Status Validated
Chromosome 1
Chromosomal Location 181723949-181847555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181751145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 232 (E232G)
Ref Sequence ENSEMBL: ENSMUSP00000141344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078719] [ENSMUST00000111024] [ENSMUST00000111025] [ENSMUST00000111030] [ENSMUST00000177811] [ENSMUST00000192967] [ENSMUST00000193074] [ENSMUST00000193703] [ENSMUST00000195059]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000078719
AA Change: E251G
SMART Domains Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: E251G

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: E232G
SMART Domains Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: E232G

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 unknown
Transcript: ENSMUST00000111025
AA Change: E232G
SMART Domains Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: E232G

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: E236G
SMART Domains Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: E236G

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: E236G
SMART Domains Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: E236G

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 unknown
Transcript: ENSMUST00000192967
AA Change: E62G
SMART Domains Protein: ENSMUSP00000141330
Gene: ENSMUSG00000022995
AA Change: E62G

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 unknown
Transcript: ENSMUST00000193074
AA Change: E252G
SMART Domains Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995
AA Change: E252G

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: ENSMUST00000193703
AA Change: E232G
SMART Domains Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: E232G

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 unknown
Transcript: ENSMUST00000195059
AA Change: E232G
SMART Domains Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: E232G

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 noncoding transcript
Transcript: ENSMUST00000195840
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 99% (75/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,800 (GRCm39) S293A possibly damaging Het
5430401F13Rik A T 6: 131,529,892 (GRCm39) Q162L unknown Het
Abca8a A T 11: 109,974,216 (GRCm39) Y239* probably null Het
Aox3 T C 1: 58,211,320 (GRCm39) I959T probably benign Het
Atad2b T C 12: 5,068,002 (GRCm39) V1000A probably damaging Het
Atic C T 1: 71,604,100 (GRCm39) T221M probably damaging Het
Atp1a2 C T 1: 172,116,942 (GRCm39) R225H probably damaging Het
BC024139 A G 15: 76,004,657 (GRCm39) probably null Het
Bpi A T 2: 158,113,974 (GRCm39) T291S probably damaging Het
Ccdc170 C T 10: 4,499,746 (GRCm39) Q556* probably null Het
Cd3e G A 9: 44,920,661 (GRCm39) L12F probably benign Het
Cdc42ep1 A T 15: 78,731,649 (GRCm39) R31S probably damaging Het
Cyp21a1 G T 17: 35,023,110 (GRCm39) probably null Het
Dnase1l3 A G 14: 7,974,115 (GRCm38) M192T probably damaging Het
Dnmt1 A T 9: 20,835,341 (GRCm39) H330Q possibly damaging Het
Etnppl C T 3: 130,414,342 (GRCm39) T73I probably damaging Het
Fam83b T A 9: 76,400,189 (GRCm39) I305F probably benign Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Gm19965 T A 1: 116,750,021 (GRCm39) N567K probably benign Het
Golga1 T C 2: 38,924,080 (GRCm39) Q435R probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hao1 T G 2: 134,365,024 (GRCm39) D201A probably benign Het
Heg1 T C 16: 33,547,499 (GRCm39) L786P possibly damaging Het
Hnrnpll A T 17: 80,357,303 (GRCm39) C238S possibly damaging Het
Hrg A G 16: 22,779,742 (GRCm39) Y340C probably damaging Het
Kyat3 A T 3: 142,443,998 (GRCm39) I411F probably damaging Het
Myo1a T C 10: 127,543,549 (GRCm39) Y202H probably damaging Het
Nags T C 11: 102,037,337 (GRCm39) C143R possibly damaging Het
Ncoa6 T C 2: 155,263,076 (GRCm39) N453D probably damaging Het
Nup35 G T 2: 80,488,730 (GRCm39) M322I probably benign Het
Oprl1 T C 2: 181,357,721 (GRCm39) V69A probably damaging Het
Or51v14 A G 7: 103,261,128 (GRCm39) L144P probably benign Het
Pappa2 T A 1: 158,784,215 (GRCm39) Y265F probably damaging Het
Pcsk6 C T 7: 65,629,903 (GRCm39) P343L possibly damaging Het
Peak1 C A 9: 56,164,950 (GRCm39) D993Y probably damaging Het
Polr2a T C 11: 69,627,758 (GRCm39) Y1383C probably damaging Het
Ppme1 A G 7: 99,990,272 (GRCm39) S226P probably damaging Het
Prom1 C T 5: 44,213,325 (GRCm39) C127Y probably damaging Het
Ptpn6 A T 6: 124,709,532 (GRCm39) probably null Het
Reln T C 5: 22,285,712 (GRCm39) E419G probably benign Het
Rnf32 C T 5: 29,430,266 (GRCm39) Q362* probably null Het
Sbspon T C 1: 15,953,887 (GRCm39) D131G probably benign Het
Scyl3 T C 1: 163,776,783 (GRCm39) S392P probably benign Het
Shtn1 T A 19: 59,026,728 (GRCm39) D121V possibly damaging Het
Sin3a A G 9: 57,024,765 (GRCm39) T1042A probably benign Het
Sipa1l2 A T 8: 126,171,369 (GRCm39) V1371D probably damaging Het
Slc20a2 T C 8: 23,055,668 (GRCm39) V584A possibly damaging Het
Smc6 T A 12: 11,355,874 (GRCm39) probably null Het
Spata31h1 T A 10: 82,124,731 (GRCm39) probably benign Het
Specc1 C T 11: 62,047,418 (GRCm39) T849I possibly damaging Het
Spta1 T A 1: 174,041,734 (GRCm39) L1368H probably damaging Het
Sqle A G 15: 59,187,959 (GRCm39) E89G possibly damaging Het
Strbp A G 2: 37,493,020 (GRCm39) V422A probably damaging Het
Sult6b1 G T 17: 79,214,360 (GRCm39) T21K probably benign Het
Tex15 A G 8: 34,065,940 (GRCm39) E1790G probably damaging Het
Tmem88b T A 4: 155,870,221 (GRCm39) probably benign Het
Traf3ip3 T C 1: 192,864,318 (GRCm39) D355G possibly damaging Het
Trim24 T A 6: 37,930,484 (GRCm39) V576E probably benign Het
Trim30c C T 7: 104,039,609 (GRCm39) G62D probably benign Het
Trim66 T G 7: 109,085,269 (GRCm39) K100N probably benign Het
Tsnaxip1 A T 8: 106,568,172 (GRCm39) T313S possibly damaging Het
Ugt2b37 A T 5: 87,390,279 (GRCm39) I389N probably damaging Het
Unc13a C T 8: 72,094,097 (GRCm39) V1335M possibly damaging Het
Urah A G 7: 140,415,124 (GRCm39) T5A probably benign Het
Usp34 T C 11: 23,388,914 (GRCm39) Y2185H probably damaging Het
Usp44 T C 10: 93,692,172 (GRCm39) S643P probably benign Het
Vars2 A G 17: 35,970,937 (GRCm39) V631A probably damaging Het
Vmn2r11 G A 5: 109,201,679 (GRCm39) T275I possibly damaging Het
Vmn2r54 C A 7: 12,349,420 (GRCm39) V721F probably damaging Het
Vmn2r79 T C 7: 86,651,498 (GRCm39) I299T probably benign Het
Vps13d T C 4: 144,849,251 (GRCm39) T2387A probably damaging Het
Washc5 A T 15: 59,209,044 (GRCm39) L610Q probably benign Het
Zbtb21 T C 16: 97,751,568 (GRCm39) E905G probably damaging Het
Zfhx4 A G 3: 5,309,095 (GRCm39) T774A probably damaging Het
Zfp534 T C 4: 147,759,299 (GRCm39) I457V probably benign Het
Zfp964 T C 8: 70,111,994 (GRCm39) Y29H possibly damaging Het
Znrf4 A G 17: 56,818,702 (GRCm39) F202L 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
R2180:Enah UTSW 1 181,746,024 (GRCm39) missense probably damaging 1.00
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
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'- GGGCTTCCTTTTAGTTTCTAAGCA -3'
(R):5'- CGACTAGAACGAGAGAGGCT -3'

Sequencing Primer
(F):5'- GAACACTGAAGCAATATTTGTTGAGC -3'
(R):5'- CTAGAGAGGGAGCGCCTG -3'
Posted On 2018-04-27