Incidental Mutation 'R0644:Elf2'
| ID |
56993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf2
|
| Ensembl Gene |
ENSMUSG00000037174 |
| Gene Name |
E74-like factor 2 |
| Synonyms |
2610036A20Rik, NERF-2, A230104O07Rik |
| MMRRC Submission |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
51160141-51248084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51215552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 53
(V53M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062009]
[ENSMUST00000091144]
[ENSMUST00000163748]
[ENSMUST00000183338]
[ENSMUST00000183463]
[ENSMUST00000194641]
|
| AlphaFold |
Q9JHC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062009
AA Change: V53M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
AA Change: V53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
108 |
2.2e-37 |
PFAM |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
169 |
N/A |
INTRINSIC |
|
ETS
|
195 |
282 |
1.28e-51 |
SMART |
|
low complexity region
|
357 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091144
AA Change: V53M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: V53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
3 |
108 |
8.6e-38 |
PFAM |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
ETS
|
207 |
294 |
1.28e-51 |
SMART |
|
low complexity region
|
369 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163748
AA Change: V53M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
AA Change: V53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
108 |
1.2e-37 |
PFAM |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
ETS
|
207 |
294 |
1.28e-51 |
SMART |
|
low complexity region
|
369 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183338
AA Change: V53M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139358
Gene: ENSMUSG00000037174
AA Change: V53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
80 |
3.2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183463
AA Change: V53M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174
AA Change: V53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
85 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194209
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194641
AA Change: V53M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
AA Change: V53M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
108 |
1.2e-37 |
PFAM |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
ETS
|
207 |
294 |
1.28e-51 |
SMART |
|
low complexity region
|
369 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
433 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,669,574 (GRCm39) |
L282P |
probably damaging |
Het |
| Acsbg1 |
T |
A |
9: 54,517,110 (GRCm39) |
I568F |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Dera |
A |
T |
6: 137,760,046 (GRCm39) |
T165S |
probably benign |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,329,868 (GRCm39) |
M81L |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,863,172 (GRCm39) |
R481G |
possibly damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,303,054 (GRCm39) |
L182P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
probably benign |
Het |
|
| Other mutations in Elf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Elf2
|
APN |
3 |
51,215,467 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
|
IGL01577:Elf2
|
APN |
3 |
51,163,773 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01829:Elf2
|
APN |
3 |
51,215,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02974:Elf2
|
APN |
3 |
51,165,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03244:Elf2
|
APN |
3 |
51,165,193 (GRCm39) |
nonsense |
probably null |
|
|
IGL02980:Elf2
|
UTSW |
3 |
51,172,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03050:Elf2
|
UTSW |
3 |
51,165,038 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0254:Elf2
|
UTSW |
3 |
51,215,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Elf2
|
UTSW |
3 |
51,163,874 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1638:Elf2
|
UTSW |
3 |
51,215,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Elf2
|
UTSW |
3 |
51,164,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1784:Elf2
|
UTSW |
3 |
51,164,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2142:Elf2
|
UTSW |
3 |
51,163,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2346:Elf2
|
UTSW |
3 |
51,164,865 (GRCm39) |
missense |
probably benign |
|
|
R4366:Elf2
|
UTSW |
3 |
51,215,570 (GRCm39) |
nonsense |
probably null |
|
|
R4672:Elf2
|
UTSW |
3 |
51,163,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Elf2
|
UTSW |
3 |
51,184,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Elf2
|
UTSW |
3 |
51,215,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Elf2
|
UTSW |
3 |
51,184,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Elf2
|
UTSW |
3 |
51,201,586 (GRCm39) |
makesense |
probably null |
|
|
R7129:Elf2
|
UTSW |
3 |
51,168,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7328:Elf2
|
UTSW |
3 |
51,174,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7718:Elf2
|
UTSW |
3 |
51,173,385 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7751:Elf2
|
UTSW |
3 |
51,165,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Elf2
|
UTSW |
3 |
51,164,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Elf2
|
UTSW |
3 |
51,215,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8812:Elf2
|
UTSW |
3 |
51,174,188 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCCAGCAATGCTGATTCAAAG -3'
(R):5'- TGAAGCCGAGTCACAGCTAAATCC -3'
Sequencing Primer
(F):5'- tcccagcacccatgcag -3'
(R):5'- GTCACAGCTAAATCCAGAGTTGTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation