Incidental Mutation 'R7592:Elavl2'
| ID |
587439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl2
|
| Ensembl Gene |
ENSMUSG00000008489 |
| Gene Name |
ELAV like RNA binding protein 1 |
| Synonyms |
mel-N1, Hub |
| MMRRC Submission |
045639-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.412)
|
| Stock # |
R7592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
91139000-91289022 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 91199808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008633]
[ENSMUST00000102799]
[ENSMUST00000107109]
[ENSMUST00000107110]
[ENSMUST00000107111]
[ENSMUST00000107116]
[ENSMUST00000107118]
[ENSMUST00000147611]
[ENSMUST00000107120]
[ENSMUST00000107124]
[ENSMUST00000176362]
[ENSMUST00000177109]
|
| AlphaFold |
Q60899 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008633
|
| SMART Domains |
Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
278 |
351 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102799
|
| SMART Domains |
Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
54 |
127 |
1.44e-24 |
SMART |
|
RRM
|
140 |
215 |
2.35e-20 |
SMART |
|
RRM
|
291 |
364 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107109
|
| SMART Domains |
Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
277 |
350 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107110
|
| SMART Domains |
Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
265 |
338 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107111
|
| SMART Domains |
Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
264 |
337 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107116
|
| SMART Domains |
Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
307 |
380 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107118
|
| SMART Domains |
Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
294 |
367 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147611
|
| SMART Domains |
Protein: ENSMUSP00000117770
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1D8Z|A
|
65 |
83 |
7e-6 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107120
|
| SMART Domains |
Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
306 |
379 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107124
|
| SMART Domains |
Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
277 |
350 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177109
|
| SMART Domains |
Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,667,138 (GRCm39) |
T204A |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,327,836 (GRCm39) |
T1415A |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 81,986,459 (GRCm39) |
T24A |
probably benign |
Het |
| Ankrd13b |
A |
C |
11: 77,367,327 (GRCm39) |
V194G |
probably benign |
Het |
| Aurkc |
C |
T |
7: 7,003,006 (GRCm39) |
T167I |
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,064,469 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,152,724 (GRCm39) |
S14P |
possibly damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,298 (GRCm39) |
I40F |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,439,377 (GRCm39) |
C296Y |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,776,861 (GRCm39) |
C505S |
possibly damaging |
Het |
| Col4a3 |
A |
G |
1: 82,626,338 (GRCm39) |
I92V |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,708,689 (GRCm39) |
H645L |
unknown |
Het |
| Crispld1 |
A |
T |
1: 17,798,990 (GRCm39) |
E37V |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,357,591 (GRCm39) |
Y1684C |
|
Het |
| Cstdc5 |
A |
T |
16: 36,187,862 (GRCm39) |
M1K |
probably null |
Het |
| Dcst1 |
C |
A |
3: 89,260,599 (GRCm39) |
S555I |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,499,060 (GRCm39) |
S70G |
possibly damaging |
Het |
| Emc1 |
A |
G |
4: 139,087,877 (GRCm39) |
H300R |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,083,669 (GRCm39) |
V322I |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,665,584 (GRCm39) |
N51D |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,114,150 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,136,036 (GRCm39) |
E579G |
probably benign |
Het |
| Hoxa4 |
T |
C |
6: 52,168,520 (GRCm39) |
H50R |
unknown |
Het |
| Htr7 |
T |
C |
19: 36,034,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ift43 |
G |
A |
12: 86,207,964 (GRCm39) |
D111N |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,630,722 (GRCm39) |
V863A |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,686 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,095,193 (GRCm39) |
K7E |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,364,436 (GRCm39) |
V371E |
probably damaging |
Het |
| Npr1 |
T |
G |
3: 90,372,323 (GRCm39) |
D163A |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,313,589 (GRCm39) |
I330V |
probably benign |
Het |
| Or2a20 |
T |
G |
6: 43,194,179 (GRCm39) |
C111G |
probably damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,020 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or51l4 |
C |
A |
7: 103,404,279 (GRCm39) |
C171F |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,389,128 (GRCm39) |
M139I |
possibly damaging |
Het |
| Poc1a |
A |
T |
9: 106,226,967 (GRCm39) |
R402S |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,193,437 (GRCm39) |
V470L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,220,469 (GRCm39) |
E93G |
probably damaging |
Het |
| Psma1 |
A |
T |
7: 113,868,961 (GRCm39) |
M180K |
probably benign |
Het |
| Pudp |
A |
T |
18: 50,701,053 (GRCm39) |
F227I |
probably damaging |
Het |
| Rab15 |
T |
A |
12: 76,851,223 (GRCm39) |
Q60L |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,497 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,876 (GRCm39) |
S976P |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,540,802 (GRCm39) |
Y219C |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,831,889 (GRCm39) |
I213K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,881,005 (GRCm39) |
D516E |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,614,543 (GRCm39) |
D184G |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,308,619 (GRCm39) |
S263N |
probably benign |
Het |
| Tmem181a |
C |
A |
17: 6,339,295 (GRCm39) |
T68K |
probably benign |
Het |
| Trav21-dv12 |
G |
T |
14: 54,113,997 (GRCm39) |
C39F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,173 (GRCm39) |
E745G |
probably damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,904 (GRCm39) |
F106I |
probably benign |
Het |
| Vmn1r39 |
C |
A |
6: 66,781,428 (GRCm39) |
V297L |
probably benign |
Het |
| Vmn2r101 |
G |
A |
17: 19,811,443 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Elavl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Elavl2
|
APN |
4 |
91,152,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Elavl2
|
APN |
4 |
91,152,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Elavl2
|
APN |
4 |
91,149,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02024:Elavl2
|
APN |
4 |
91,141,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02860:Elavl2
|
APN |
4 |
91,149,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Elavl2
|
UTSW |
4 |
91,197,104 (GRCm39) |
splice site |
probably benign |
|
|
R1294:Elavl2
|
UTSW |
4 |
91,199,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1778:Elavl2
|
UTSW |
4 |
91,141,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Elavl2
|
UTSW |
4 |
91,141,687 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2190:Elavl2
|
UTSW |
4 |
91,152,331 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3773:Elavl2
|
UTSW |
4 |
91,152,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Elavl2
|
UTSW |
4 |
91,149,246 (GRCm39) |
splice site |
probably null |
|
|
R4784:Elavl2
|
UTSW |
4 |
91,142,379 (GRCm39) |
missense |
probably null |
0.97 |
|
R4911:Elavl2
|
UTSW |
4 |
91,196,915 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5396:Elavl2
|
UTSW |
4 |
91,149,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Elavl2
|
UTSW |
4 |
91,141,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Elavl2
|
UTSW |
4 |
91,196,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Elavl2
|
UTSW |
4 |
91,260,280 (GRCm39) |
unclassified |
probably benign |
|
|
R9051:Elavl2
|
UTSW |
4 |
91,199,847 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9381:Elavl2
|
UTSW |
4 |
91,197,009 (GRCm39) |
missense |
probably benign |
|
|
R9727:Elavl2
|
UTSW |
4 |
91,169,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATATAACAGCACGGTTCTGATC -3'
(R):5'- TTCAATGAAGCCCCACTGC -3'
Sequencing Primer
(F):5'- GCACGGTTCTGATCTATATATACCAC -3'
(R):5'- GAAGACAATCACTGTAAATTTGTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation