Incidental Mutation 'IGL00917:Elf2'
| ID |
27088 |
| 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 # |
IGL00917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51160141-51248084 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (4 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 51215467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062009]
[ENSMUST00000091144]
[ENSMUST00000163748]
[ENSMUST00000183338]
[ENSMUST00000183463]
[ENSMUST00000194641]
|
| AlphaFold |
Q9JHC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062009
|
| SMART Domains |
Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
| 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: ENSMUST00000163748
|
| SMART Domains |
Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
| 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: ENSMUST00000183338
|
| SMART Domains |
Protein: ENSMUSP00000139358
Gene: ENSMUSG00000037174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
80 |
3.2e-25 |
PFAM |
|
| 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: ENSMUST00000194209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194641
|
| SMART Domains |
Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,241,107 (GRCm39) |
V26E |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,011,120 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,841,421 (GRCm39) |
T766I |
possibly damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,216,453 (GRCm39) |
S664R |
probably benign |
Het |
| Cand1 |
A |
C |
10: 119,046,841 (GRCm39) |
I883S |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,367 (GRCm39) |
D85G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,081,909 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Cnst |
T |
C |
1: 179,452,557 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,661,453 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
A |
C |
5: 122,007,168 (GRCm39) |
L831R |
probably null |
Het |
| Frey1 |
T |
A |
2: 92,213,563 (GRCm39) |
S39T |
probably benign |
Het |
| Glp1r |
A |
G |
17: 31,138,443 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,131,527 (GRCm39) |
M44T |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,119,988 (GRCm39) |
|
probably benign |
Het |
| Med31 |
T |
A |
11: 72,102,905 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
C |
T |
6: 60,952,894 (GRCm39) |
Q392* |
probably null |
Het |
| Mrpl3 |
T |
G |
9: 104,934,240 (GRCm39) |
V121G |
probably damaging |
Het |
| Or10am5 |
A |
G |
7: 6,517,577 (GRCm39) |
S284P |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,649 (GRCm39) |
M116K |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,968,969 (GRCm39) |
V879A |
possibly damaging |
Het |
| Pkn2 |
G |
T |
3: 142,559,386 (GRCm39) |
D46E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,557,428 (GRCm39) |
C2244S |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,474 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Rab8b |
C |
T |
9: 66,761,969 (GRCm39) |
W102* |
probably null |
Het |
| Rad54l2 |
A |
T |
9: 106,587,638 (GRCm39) |
L709Q |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,592,535 (GRCm39) |
V471A |
probably benign |
Het |
| Rbms3 |
A |
G |
9: 116,939,183 (GRCm39) |
S27P |
probably damaging |
Het |
| Rpl35a |
A |
G |
16: 32,879,101 (GRCm39) |
K73E |
possibly damaging |
Het |
| Sugct |
A |
T |
13: 17,032,503 (GRCm39) |
Y416* |
probably null |
Het |
| Top2b |
A |
G |
14: 16,407,354 (GRCm38) |
I713V |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,054,766 (GRCm39) |
R777S |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,993,779 (GRCm39) |
M258K |
probably benign |
Het |
| Zfp944 |
G |
A |
17: 22,558,765 (GRCm39) |
L161F |
probably benign |
Het |
|
| Other mutations in Elf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation