Incidental Mutation 'IGL03244:Elf2'
| ID |
414348 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elf2
|
| Ensembl Gene |
ENSMUSG00000037174 |
| Gene Name |
E74-like factor 2 |
| Synonyms |
2610036A20Rik, NERF-2, A230104O07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
IGL03244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51160141-51248084 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 51165193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 270
(Y270*)
|
| 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 null
Transcript: ENSMUST00000062009
AA Change: Y258*
|
| SMART Domains |
Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
AA Change: Y258*
| 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 null
Transcript: ENSMUST00000091144
AA Change: Y181*
|
| SMART Domains |
Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: Y181*
| 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 null
Transcript: ENSMUST00000108051
AA Change: Y198*
|
| SMART Domains |
Protein: ENSMUSP00000103686
Gene: ENSMUSG00000037174
AA Change: Y198*
| 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 null
Transcript: ENSMUST00000108053
AA Change: Y210*
|
| SMART Domains |
Protein: ENSMUSP00000103688
Gene: ENSMUSG00000037174
AA Change: Y210*
| 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 null
Transcript: ENSMUST00000163748
AA Change: Y270*
|
| SMART Domains |
Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
AA Change: Y270*
| 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 null
Transcript: ENSMUST00000194641
AA Change: Y270*
|
| SMART Domains |
Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
AA Change: Y270*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,964,342 (GRCm39) |
Y696C |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
| B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
| Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
| Cers4 |
T |
A |
8: 4,566,878 (GRCm39) |
V60E |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,655,451 (GRCm39) |
Y125H |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
| H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
| Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
| Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,840,483 (GRCm39) |
E418G |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,098,341 (GRCm39) |
V460A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
| Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,404,513 (GRCm39) |
G121* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation