Incidental Mutation 'R7129:Elf2'
ID |
552501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elf2
|
Ensembl Gene |
ENSMUSG00000037174 |
Gene Name |
E74-like factor 2 |
Synonyms |
2610036A20Rik, NERF-2, A230104O07Rik |
MMRRC Submission |
045214-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R7129 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
51160141-51248084 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51168432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 201
(R201G)
|
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 damaging
Transcript: ENSMUST00000062009
AA Change: R189G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000061076 Gene: ENSMUSG00000037174 AA Change: R189G
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 |
possibly damaging
Transcript: ENSMUST00000108051
AA Change: R129G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103686 Gene: ENSMUSG00000037174 AA Change: R129G
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: R141G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103688 Gene: ENSMUSG00000037174 AA Change: R141G
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: ENSMUST00000156983
|
SMART Domains |
Protein: ENSMUSP00000141525 Gene: ENSMUSG00000037174
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
7 |
48 |
1.6e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163748
AA Change: R201G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126871 Gene: ENSMUSG00000037174 AA Change: R201G
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 benign
Transcript: ENSMUST00000184677
|
SMART Domains |
Protein: ENSMUSP00000139199 Gene: ENSMUSG00000037174
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
10 |
48 |
1.1e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194641
AA Change: R201G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141197 Gene: ENSMUSG00000037174 AA Change: R201G
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: ENSMUST00000195432
|
SMART Domains |
Protein: ENSMUSP00000142300 Gene: ENSMUSG00000037174
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 |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,209,199 (GRCm39) |
E443G |
probably damaging |
Het |
2700049A03Rik |
A |
G |
12: 71,263,004 (GRCm39) |
|
probably null |
Het |
3110082I17Rik |
A |
G |
5: 139,349,738 (GRCm39) |
Y104H |
probably damaging |
Het |
Abcg4 |
T |
C |
9: 44,190,681 (GRCm39) |
K282E |
probably benign |
Het |
Adamts17 |
T |
C |
7: 66,770,758 (GRCm39) |
S956P |
probably damaging |
Het |
Adh1 |
T |
C |
3: 137,986,235 (GRCm39) |
V74A |
probably damaging |
Het |
Akt1 |
A |
T |
12: 112,626,083 (GRCm39) |
M63K |
probably benign |
Het |
Arfrp1 |
G |
A |
2: 181,001,344 (GRCm39) |
R177* |
probably null |
Het |
Arl11 |
A |
G |
14: 61,548,346 (GRCm39) |
E52G |
possibly damaging |
Het |
BC051019 |
T |
C |
7: 109,319,825 (GRCm39) |
S10G |
|
Het |
Bfsp2 |
T |
A |
9: 103,357,118 (GRCm39) |
E103V |
probably damaging |
Het |
Bms1 |
G |
T |
6: 118,380,122 (GRCm39) |
C728* |
probably null |
Het |
Cachd1 |
T |
G |
4: 100,775,263 (GRCm39) |
N159K |
probably null |
Het |
Cd38 |
A |
G |
5: 44,067,651 (GRCm39) |
N294S |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,852,433 (GRCm39) |
N891S |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,543,370 (GRCm39) |
H836L |
probably damaging |
Het |
Cldn16 |
A |
T |
16: 26,301,388 (GRCm39) |
D232V |
probably damaging |
Het |
Dhx33 |
A |
T |
11: 70,884,689 (GRCm39) |
I425N |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,878,878 (GRCm39) |
N1506D |
probably damaging |
Het |
Dok7 |
T |
C |
5: 35,236,392 (GRCm39) |
S227P |
probably damaging |
Het |
Elp1 |
T |
C |
4: 56,787,944 (GRCm39) |
H329R |
probably damaging |
Het |
Etaa1 |
T |
C |
11: 17,890,339 (GRCm39) |
R841G |
possibly damaging |
Het |
Exoc4 |
T |
C |
6: 33,948,934 (GRCm39) |
Y926H |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,929,143 (GRCm39) |
H3849R |
probably benign |
Het |
Hapln3 |
C |
T |
7: 78,771,572 (GRCm39) |
G106R |
probably damaging |
Het |
Hmcn1 |
A |
C |
1: 150,452,961 (GRCm39) |
|
probably null |
Het |
Ifitm7 |
A |
T |
16: 13,801,600 (GRCm39) |
I53N |
possibly damaging |
Het |
Il6ra |
T |
C |
3: 89,778,554 (GRCm39) |
N433D |
probably damaging |
Het |
Iqch |
C |
T |
9: 63,329,191 (GRCm39) |
V1048I |
probably benign |
Het |
Kif20a |
A |
G |
18: 34,765,588 (GRCm39) |
T862A |
probably benign |
Het |
Mcrs1 |
G |
A |
15: 99,146,609 (GRCm39) |
L141F |
probably damaging |
Het |
Nkx3-2 |
A |
G |
5: 41,919,017 (GRCm39) |
S324P |
probably damaging |
Het |
Nmi |
A |
T |
2: 51,845,936 (GRCm39) |
|
probably null |
Het |
Nufip1 |
A |
G |
14: 76,372,325 (GRCm39) |
K480E |
possibly damaging |
Het |
Oit3 |
T |
A |
10: 59,264,166 (GRCm39) |
I323F |
probably damaging |
Het |
Or2ag17 |
T |
C |
7: 106,389,690 (GRCm39) |
K173E |
probably benign |
Het |
Or5b98 |
A |
T |
19: 12,931,478 (GRCm39) |
H175L |
possibly damaging |
Het |
Pcdha11 |
A |
G |
18: 37,140,291 (GRCm39) |
E640G |
probably benign |
Het |
Phip |
C |
T |
9: 82,759,353 (GRCm39) |
V1366I |
probably damaging |
Het |
Plin5 |
T |
C |
17: 56,422,174 (GRCm39) |
M162V |
probably null |
Het |
Podxl2 |
A |
G |
6: 88,820,487 (GRCm39) |
|
probably null |
Het |
Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
Rab4a |
A |
T |
8: 124,554,069 (GRCm39) |
D40V |
probably benign |
Het |
Scn7a |
A |
G |
2: 66,530,537 (GRCm39) |
F603L |
probably benign |
Het |
Slfn5 |
A |
T |
11: 82,851,976 (GRCm39) |
K701* |
probably null |
Het |
Speer4f2 |
A |
G |
5: 17,582,446 (GRCm39) |
D223G |
|
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Tas2r117 |
A |
T |
6: 132,780,350 (GRCm39) |
T163S |
probably benign |
Het |
Tecta |
T |
C |
9: 42,259,287 (GRCm39) |
D1532G |
probably damaging |
Het |
Tmem63a |
T |
C |
1: 180,782,441 (GRCm39) |
I146T |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,646,515 (GRCm39) |
G12844W |
probably damaging |
Het |
Usp22 |
T |
C |
11: 61,053,775 (GRCm39) |
I190V |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,219,412 (GRCm39) |
I536T |
probably damaging |
Het |
Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
Vmn1r9 |
A |
C |
6: 57,048,611 (GRCm39) |
T229P |
probably damaging |
Het |
Zbtb21 |
AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
16: 97,752,887 (GRCm39) |
|
probably benign |
Het |
Zbtb8a |
G |
C |
4: 129,254,188 (GRCm39) |
A102G |
probably damaging |
Het |
Zfp51 |
T |
C |
17: 21,681,971 (GRCm39) |
W57R |
probably 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 |
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 |
|
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'- TGTTGGTCCACCCCTAATTGAG -3'
(R):5'- TGAGGATTTCAGTCTGCACATTAG -3'
Sequencing Primer
(F):5'- TTGGTCCACCCCTAATTGAGAAATAC -3'
(R):5'- GCACATTAGTATCTAGTTTAGTGAGG -3'
|
Posted On |
2019-05-15 |