Incidental Mutation 'R7328:Elf2'
ID |
569036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elf2
|
Ensembl Gene |
ENSMUSG00000037174 |
Gene Name |
E74-like factor 2 |
Synonyms |
2610036A20Rik, NERF-2, A230104O07Rik |
MMRRC Submission |
045421-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R7328 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
51160141-51248084 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51174198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 110
(C110R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062009]
[ENSMUST00000091144]
[ENSMUST00000108051]
[ENSMUST00000108053]
[ENSMUST00000156983]
[ENSMUST00000163748]
[ENSMUST00000183338]
[ENSMUST00000183463]
[ENSMUST00000184677]
[ENSMUST00000194641]
[ENSMUST00000195432]
|
AlphaFold |
Q9JHC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062009
AA Change: C110R
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000061076 Gene: ENSMUSG00000037174 AA Change: C110R
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 |
possibly damaging
Transcript: ENSMUST00000091144
AA Change: C50R
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088678 Gene: ENSMUSG00000037174 AA Change: C50R
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 |
possibly damaging
Transcript: ENSMUST00000108051
AA Change: C50R
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103686 Gene: ENSMUSG00000037174 AA Change: C50R
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 |
possibly damaging
Transcript: ENSMUST00000108053
AA Change: C50R
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103688 Gene: ENSMUSG00000037174 AA Change: C50R
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 |
possibly damaging
Transcript: ENSMUST00000156983
AA Change: C50R
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141525 Gene: ENSMUSG00000037174 AA Change: C50R
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
7 |
48 |
1.6e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163748
AA Change: C110R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126871 Gene: ENSMUSG00000037174 AA Change: C110R
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 |
probably damaging
Transcript: ENSMUST00000184677
AA Change: C50R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139199 Gene: ENSMUSG00000037174 AA Change: C50R
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
10 |
48 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194641
AA Change: C110R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141197 Gene: ENSMUSG00000037174 AA Change: C110R
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 |
possibly damaging
Transcript: ENSMUST00000195432
AA Change: C50R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142300 Gene: ENSMUSG00000037174 AA Change: C50R
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
7 |
48 |
1.3e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
G |
11: 72,060,606 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,241,545 (GRCm39) |
V1136E |
probably benign |
Het |
Arl4c |
C |
A |
1: 88,629,239 (GRCm39) |
E50* |
probably null |
Het |
Atxn7l1 |
T |
C |
12: 33,198,502 (GRCm39) |
|
probably null |
Het |
Ctdsp1 |
A |
T |
1: 74,433,199 (GRCm39) |
I115F |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,450 (GRCm39) |
V91A |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,446,235 (GRCm39) |
K1469* |
probably null |
Het |
Ephb1 |
A |
G |
9: 102,072,438 (GRCm39) |
Y114H |
probably damaging |
Het |
Ephb2 |
C |
T |
4: 136,386,245 (GRCm39) |
|
probably null |
Het |
Fbxw20 |
C |
A |
9: 109,061,383 (GRCm39) |
C122F |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,883,788 (GRCm38) |
I338T |
possibly damaging |
Het |
Flnb |
T |
A |
14: 7,894,660 (GRCm38) |
Y819* |
probably null |
Het |
Foxo3 |
A |
T |
10: 42,073,258 (GRCm39) |
S420T |
probably benign |
Het |
Herpud1 |
T |
C |
8: 95,113,248 (GRCm39) |
V10A |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,514,617 (GRCm39) |
V3585E |
possibly damaging |
Het |
Hsdl1 |
T |
C |
8: 120,292,830 (GRCm39) |
T202A |
probably benign |
Het |
Htr1d |
G |
A |
4: 136,170,614 (GRCm39) |
S281N |
probably benign |
Het |
Igkv14-111 |
T |
A |
6: 68,233,709 (GRCm39) |
I70N |
probably damaging |
Het |
Igkv8-34 |
A |
G |
6: 70,021,328 (GRCm39) |
S45P |
probably damaging |
Het |
Inha |
T |
C |
1: 75,486,760 (GRCm39) |
Y352H |
probably damaging |
Het |
Lats1 |
A |
T |
10: 7,581,311 (GRCm39) |
M699L |
possibly damaging |
Het |
Marchf9 |
T |
C |
10: 126,894,165 (GRCm39) |
E146G |
probably damaging |
Het |
Mcm8 |
T |
C |
2: 132,674,777 (GRCm39) |
V443A |
probably benign |
Het |
Melk |
A |
T |
4: 44,332,931 (GRCm39) |
S296C |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,698,737 (GRCm39) |
S4P |
|
Het |
Myof |
T |
C |
19: 37,904,847 (GRCm39) |
Y1646C |
probably damaging |
Het |
Noc4l |
C |
A |
5: 110,796,789 (GRCm39) |
A498S |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 88,762,345 (GRCm39) |
S131P |
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,506,507 (GRCm39) |
I312T |
probably benign |
Het |
Or5ak23 |
A |
G |
2: 85,244,668 (GRCm39) |
I185T |
probably benign |
Het |
Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
Or8g23 |
T |
C |
9: 38,971,857 (GRCm39) |
Y35C |
probably damaging |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Phldb2 |
T |
A |
16: 45,578,572 (GRCm39) |
|
probably null |
Het |
Polr2b |
C |
T |
5: 77,463,846 (GRCm39) |
P81L |
probably damaging |
Het |
Rbfa |
C |
A |
18: 80,236,454 (GRCm39) |
G215C |
probably benign |
Het |
Rdh19 |
T |
C |
10: 127,692,896 (GRCm39) |
S188P |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,314,931 (GRCm39) |
M1596V |
probably benign |
Het |
Sele |
A |
T |
1: 163,876,844 (GRCm39) |
Y40F |
probably benign |
Het |
Setd1b |
T |
A |
5: 123,290,442 (GRCm39) |
V803D |
unknown |
Het |
Siglecf |
C |
T |
7: 43,001,691 (GRCm39) |
T167I |
possibly damaging |
Het |
Slc39a6 |
T |
C |
18: 24,733,987 (GRCm39) |
E234G |
probably benign |
Het |
Slco1a1 |
T |
A |
6: 141,882,134 (GRCm39) |
D145V |
possibly damaging |
Het |
Son |
G |
A |
16: 91,455,278 (GRCm39) |
V1342I |
probably benign |
Het |
Sybu |
G |
A |
15: 44,651,190 (GRCm39) |
P38L |
not run |
Het |
Taf15 |
C |
T |
11: 83,375,658 (GRCm39) |
T41M |
possibly damaging |
Het |
Tm4sf4 |
A |
T |
3: 57,333,925 (GRCm39) |
N71Y |
probably benign |
Het |
Tm7sf2 |
C |
T |
19: 6,114,156 (GRCm39) |
V226I |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,056,958 (GRCm39) |
Q1066H |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,291,685 (GRCm39) |
V51A |
probably benign |
Het |
Vav3 |
A |
T |
3: 109,410,744 (GRCm39) |
I192L |
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 |
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 |
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'- CTAGAAGTAACTCCTTTGCATCAAC -3'
(R):5'- GGCTTATGTAGAATTGTTCACATGG -3'
Sequencing Primer
(F):5'- TGGAACTCTCACTCTGTAGACCAG -3'
(R):5'- TGTAGAATTGTTCACATGGACAATC -3'
|
Posted On |
2019-09-13 |