Incidental Mutation 'R9458:Enah'
| ID |
714698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enah
|
| Ensembl Gene |
ENSMUSG00000022995 |
| Gene Name |
ENAH actin regulator |
| Synonyms |
Mena, Ndpp1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.756)
|
| Stock # |
R9458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
181723949-181847555 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181746107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 654
(S654R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077781
(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: S654R
|
| SMART Domains |
Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: S654R
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| SMART Domains |
Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: S391R
| Domain | Start | End | E-Value | Type |
|---|
|
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: S357R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: S357R
| Domain | Start | End | E-Value | Type |
|---|
|
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: S639R
|
| SMART Domains |
Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: S639R
| Domain | Start | End | E-Value | Type |
|---|
|
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: S639R
|
| SMART Domains |
Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: S639R
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: S374R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995
AA Change: S374R
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably damaging
Transcript: ENSMUST00000193703
AA Change: S391R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: S391R
| Domain | Start | End | E-Value | Type |
|---|
|
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: S635R
|
| SMART Domains |
Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: S635R
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
| 4921539E11Rik |
T |
A |
4: 103,141,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
| Bmp7 |
G |
A |
2: 172,721,268 (GRCm39) |
P269L |
possibly damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
| Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
| Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
| Eif2b4 |
C |
A |
5: 31,350,609 (GRCm39) |
|
probably benign |
Het |
| Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
| Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
| Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
| Mndal |
A |
G |
1: 173,687,749 (GRCm39) |
F495S |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
| Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
| Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
| Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
| Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
| Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
| Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,246 (GRCm39) |
V810A |
possibly damaging |
Het |
| Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Enah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TCAGCAATTCTTCTCCTGAAAAGG -3'
(R):5'- GAAGTCCATGTTATTCACTCTCTTGG -3'
Sequencing Primer
(F):5'- ATATGACCTACCTACCTACCTCTGG -3'
(R):5'- ATGTTATTCACTCTCTTGGCTCTTC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation