Incidental Mutation 'R6882:Elavl2'
| ID |
536716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elavl2
|
| Ensembl Gene |
ENSMUSG00000008489 |
| Gene Name |
ELAV like RNA binding protein 1 |
| Synonyms |
mel-N1, Hub |
| MMRRC Submission |
044977-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.407)
|
| Stock # |
R6882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
91139000-91289022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91196952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 42
(I42T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008633]
[ENSMUST00000102799]
[ENSMUST00000107109]
[ENSMUST00000107110]
[ENSMUST00000107111]
[ENSMUST00000107116]
[ENSMUST00000107118]
[ENSMUST00000107120]
[ENSMUST00000107124]
[ENSMUST00000147611]
[ENSMUST00000176362]
[ENSMUST00000177109]
|
| AlphaFold |
Q60899 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008633
AA Change: I42T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: I42T
| 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 damaging
Transcript: ENSMUST00000102799
AA Change: I56T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: I56T
| 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 damaging
Transcript: ENSMUST00000107109
AA Change: I42T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: I42T
| 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 damaging
Transcript: ENSMUST00000107110
AA Change: I42T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: I42T
| 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 damaging
Transcript: ENSMUST00000107111
AA Change: I42T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: I42T
| 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 damaging
Transcript: ENSMUST00000107116
AA Change: I71T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: I71T
| 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 damaging
Transcript: ENSMUST00000107118
AA Change: I71T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: I71T
| 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 damaging
Transcript: ENSMUST00000107120
AA Change: I71T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: I71T
| 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 damaging
Transcript: ENSMUST00000107124
AA Change: I42T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: I42T
| 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 damaging
Transcript: ENSMUST00000147611
AA Change: I71T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117770
Gene: ENSMUSG00000008489
AA Change: I71T
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1D8Z|A
|
65 |
83 |
7e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176362
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177109
AA Change: I42T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489
AA Change: I42T
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
A |
G |
12: 71,003,125 (GRCm39) |
E238G |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,271 (GRCm39) |
C989S |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,739,406 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,105,318 (GRCm39) |
D320G |
probably damaging |
Het |
| Cacnb2 |
T |
A |
2: 14,829,110 (GRCm39) |
I15N |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,206,534 (GRCm39) |
Q437L |
probably damaging |
Het |
| Capn15 |
G |
T |
17: 26,179,153 (GRCm39) |
|
probably null |
Het |
| Cbll1 |
A |
G |
12: 31,537,484 (GRCm39) |
Y424H |
probably damaging |
Het |
| Ccdc166 |
T |
C |
15: 75,853,466 (GRCm39) |
H167R |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,523,809 (GRCm39) |
|
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,175 (GRCm39) |
T176S |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,447,054 (GRCm39) |
E2321G |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,817,469 (GRCm39) |
Q281* |
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,343,062 (GRCm39) |
T1485A |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,976,851 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,407 (GRCm39) |
I2271T |
possibly damaging |
Het |
| Epn3 |
C |
T |
11: 94,382,186 (GRCm39) |
A568T |
probably benign |
Het |
| Etv3 |
T |
C |
3: 87,436,577 (GRCm39) |
F111L |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,724 (GRCm39) |
E1041G |
probably damaging |
Het |
| Fosl2 |
T |
C |
5: 32,310,208 (GRCm39) |
V219A |
possibly damaging |
Het |
| Foxj2 |
T |
A |
6: 122,805,464 (GRCm39) |
|
probably null |
Het |
| Gm8947 |
G |
A |
1: 151,068,880 (GRCm39) |
A238T |
possibly damaging |
Het |
| Golgb1 |
C |
A |
16: 36,734,352 (GRCm39) |
Q1200K |
probably benign |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,289 (GRCm39) |
Y108H |
probably damaging |
Het |
| Iglc1 |
G |
A |
16: 18,880,599 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
G |
T |
6: 146,464,939 (GRCm39) |
R221S |
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,037,190 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
T |
18: 45,692,505 (GRCm39) |
H27L |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,142,049 (GRCm39) |
V217M |
probably benign |
Het |
| Klra9 |
A |
T |
6: 130,155,985 (GRCm39) |
C257S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,805,467 (GRCm39) |
F345L |
probably damaging |
Het |
| Lrrc18 |
A |
C |
14: 32,730,646 (GRCm39) |
I62L |
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,008,199 (GRCm39) |
W259R |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,414,832 (GRCm39) |
R3325H |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,839,775 (GRCm39) |
D788G |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,290 (GRCm39) |
Y104F |
probably benign |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,990 (GRCm39) |
C122S |
unknown |
Het |
| Or6d12 |
T |
C |
6: 116,493,395 (GRCm39) |
V219A |
probably benign |
Het |
| Pbld1 |
T |
C |
10: 62,897,241 (GRCm39) |
L11P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,263,662 (GRCm39) |
E434G |
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,329,246 (GRCm39) |
T174M |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,601,127 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
A |
16: 15,626,020 (GRCm39) |
S3349T |
probably benign |
Het |
| Prpf38a |
C |
A |
4: 108,427,365 (GRCm39) |
E199D |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,152,527 (GRCm39) |
H339L |
probably damaging |
Het |
| Rnf183 |
A |
G |
4: 62,346,261 (GRCm39) |
I179T |
probably benign |
Het |
| Sh3bp5l |
G |
T |
11: 58,222,525 (GRCm39) |
A7S |
probably benign |
Het |
| Slc12a3 |
T |
A |
8: 95,092,546 (GRCm39) |
I989N |
possibly damaging |
Het |
| Sycp3 |
C |
T |
10: 88,308,791 (GRCm39) |
R246* |
probably null |
Het |
| Tmprss11b |
T |
A |
5: 86,819,530 (GRCm39) |
|
probably null |
Het |
| Tmx4 |
T |
C |
2: 134,485,922 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tnfsf10 |
T |
C |
3: 27,380,182 (GRCm39) |
L82S |
possibly damaging |
Het |
| Tnni3k |
T |
A |
3: 154,663,357 (GRCm39) |
I332F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,644,539 (GRCm39) |
T13072S |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,529 (GRCm39) |
Y395F |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,019 (GRCm39) |
V476A |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,479,943 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,843,016 (GRCm39) |
D224G |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,361,194 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
T |
C |
17: 21,775,309 (GRCm39) |
M1T |
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 |
|
R7592:Elavl2
|
UTSW |
4 |
91,199,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GGCCTCCCAAAGCATTTTC -3'
(R):5'- GTGTTCAGTGACAAGTGTTTCAC -3'
Sequencing Primer
(F):5'- AAAGCATTTTCTCATATTCTGACCC -3'
(R):5'- CACTCTTGGGTGGAATCTCTAATAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation