Incidental Mutation 'R2346:Elf2'
| ID |
245943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf2
|
| Ensembl Gene |
ENSMUSG00000037174 |
| Gene Name |
E74-like factor 2 |
| Synonyms |
2610036A20Rik, NERF-2, A230104O07Rik |
| MMRRC Submission |
040329-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R2346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51160141-51248084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51164865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 380
(S380P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062009]
[ENSMUST00000091144]
[ENSMUST00000108051]
[ENSMUST00000108053]
[ENSMUST00000163748]
[ENSMUST00000183463]
[ENSMUST00000194641]
|
| AlphaFold |
Q9JHC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062009
AA Change: S368P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
AA Change: S368P
| 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 benign
Transcript: ENSMUST00000091144
AA Change: S291P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: S291P
| 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 benign
Transcript: ENSMUST00000108051
AA Change: S308P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103686
Gene: ENSMUSG00000037174
AA Change: S308P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
11 |
48 |
4.9e-11 |
PFAM |
|
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
ETS
|
135 |
222 |
1.28e-51 |
SMART |
|
low complexity region
|
297 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108053
AA Change: S320P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103688
Gene: ENSMUSG00000037174
AA Change: S320P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
11 |
48 |
5e-11 |
PFAM |
|
low complexity region
|
82 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
121 |
N/A |
INTRINSIC |
|
ETS
|
147 |
234 |
1.28e-51 |
SMART |
|
low complexity region
|
309 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163748
AA Change: S380P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
AA Change: S380P
| 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 benign
Transcript: ENSMUST00000183463
|
| SMART Domains |
Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
85 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194641
AA Change: S380P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
AA Change: S380P
| 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 |
|
| Meta Mutation Damage Score |
0.0743 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (21/21) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
C |
13: 60,931,774 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,378,852 (GRCm39) |
L137P |
probably damaging |
Het |
| Fbxw15 |
T |
C |
9: 109,394,500 (GRCm39) |
Y105C |
probably damaging |
Het |
| Gm12588 |
T |
C |
11: 121,796,994 (GRCm39) |
Y285C |
probably benign |
Het |
| Gm21276 |
T |
A |
7: 38,467,575 (GRCm39) |
|
noncoding transcript |
Het |
| Kat2b |
A |
G |
17: 53,917,932 (GRCm39) |
N97S |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,661 (GRCm39) |
R305G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,423,902 (GRCm39) |
A3148E |
possibly damaging |
Het |
| Prkar2b |
T |
C |
12: 32,022,149 (GRCm39) |
N212S |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,418,236 (GRCm39) |
T959S |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,122,299 (GRCm39) |
G8R |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skiv2l-ps1 |
A |
G |
17: 34,989,076 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,931 (GRCm39) |
M86V |
possibly damaging |
Het |
| Vwa1 |
A |
G |
4: 155,857,526 (GRCm39) |
Y91H |
probably benign |
Het |
| Zan |
A |
G |
5: 137,420,129 (GRCm39) |
S2843P |
unknown |
Het |
| Zbtb39 |
A |
T |
10: 127,577,450 (GRCm39) |
Q8L |
possibly damaging |
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 |
|
R0644:Elf2
|
UTSW |
3 |
51,215,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAGCGTTCCCAACTTTTACAG -3'
(R):5'- GTGTCACTATCTGCAGAAAGTCTC -3'
Sequencing Primer
(F):5'- CTCCACAGTACTTAGGACTGTAGG -3'
(R):5'- CTATCTGCAGAAAGTCTCCTGAAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation