Incidental Mutation 'R6293:Elf1'
ID |
508573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elf1
|
Ensembl Gene |
ENSMUSG00000036461 |
Gene Name |
E74 like ETS transcription factor 1 |
Synonyms |
Elf-1 |
MMRRC Submission |
044462-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.281)
|
Stock # |
R6293 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79798226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 38
(H38Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000227192]
|
AlphaFold |
Q60775 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040131
AA Change: H38Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046515 Gene: ENSMUSG00000036461 AA Change: H38Y
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
2 |
111 |
1.5e-47 |
PFAM |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
ETS
|
207 |
294 |
6.39e-52 |
SMART |
low complexity region
|
299 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110835
AA Change: H38Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106459 Gene: ENSMUSG00000036461 AA Change: H38Y
Domain | Start | End | E-Value | Type |
Pfam:Elf-1_N
|
1 |
111 |
1.9e-47 |
PFAM |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
ETS
|
207 |
294 |
6.39e-52 |
SMART |
low complexity region
|
299 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176930
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227192
AA Change: H38Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] PHENOTYPE: Mice homozygous for disruptions in this gene show no obvious phenotypic abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
Abcb1b |
T |
C |
5: 8,903,493 (GRCm39) |
I1048T |
probably benign |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Alkbh8 |
G |
T |
9: 3,347,841 (GRCm39) |
L211F |
possibly damaging |
Het |
Ankrd27 |
T |
C |
7: 35,307,885 (GRCm39) |
S375P |
possibly damaging |
Het |
Apoc1 |
T |
A |
7: 19,425,817 (GRCm39) |
T68S |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,508 (GRCm39) |
Y1318N |
possibly damaging |
Het |
Camsap2 |
C |
A |
1: 136,215,658 (GRCm39) |
R345L |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,398,659 (GRCm39) |
Q46* |
probably null |
Het |
Cdk12 |
T |
A |
11: 98,115,379 (GRCm39) |
M840K |
unknown |
Het |
Cfap251 |
A |
C |
5: 123,460,511 (GRCm39) |
N1158H |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,521,640 (GRCm39) |
N2772K |
probably benign |
Het |
Dthd1 |
A |
G |
5: 63,000,193 (GRCm39) |
D505G |
probably damaging |
Het |
Gcnt2 |
T |
A |
13: 41,072,173 (GRCm39) |
V272D |
probably damaging |
Het |
Gm9964 |
T |
A |
11: 79,187,420 (GRCm39) |
K9M |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,204,341 (GRCm39) |
S158P |
possibly damaging |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,324,543 (GRCm39) |
S4635G |
possibly damaging |
Het |
Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
Lrrc8c |
A |
G |
5: 105,754,612 (GRCm39) |
Y129C |
probably damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mcm3ap |
C |
G |
10: 76,307,312 (GRCm39) |
Y418* |
probably null |
Het |
Mpdz |
A |
G |
4: 81,278,293 (GRCm39) |
L764P |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,877,627 (GRCm39) |
D426G |
unknown |
Het |
Ndel1 |
C |
T |
11: 68,727,101 (GRCm39) |
R192H |
probably damaging |
Het |
Nudt21 |
T |
C |
8: 94,755,506 (GRCm39) |
D134G |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,022,371 (GRCm39) |
H113L |
probably damaging |
Het |
Nxf1 |
A |
G |
19: 8,746,546 (GRCm39) |
K586E |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,613 (GRCm39) |
H176R |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,624 (GRCm39) |
E171G |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,108,099 (GRCm39) |
Y365C |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,560,497 (GRCm39) |
Y368C |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,515,465 (GRCm39) |
F649L |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,755,798 (GRCm39) |
Y205C |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,232,522 (GRCm39) |
N863S |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,605,019 (GRCm39) |
K2979R |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,840,253 (GRCm39) |
Y251C |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,525,607 (GRCm39) |
W334R |
probably damaging |
Het |
Rbm11 |
A |
T |
16: 75,393,655 (GRCm39) |
|
probably null |
Het |
Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
Rhbg |
G |
A |
3: 88,153,133 (GRCm39) |
R274* |
probably null |
Het |
Rpp30 |
A |
G |
19: 36,081,845 (GRCm39) |
*269W |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Slc44a1 |
A |
G |
4: 53,561,099 (GRCm39) |
K605R |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,927,346 (GRCm39) |
S80G |
probably benign |
Het |
Tmem50b |
A |
T |
16: 91,380,164 (GRCm39) |
M71K |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyro3 |
A |
G |
2: 119,638,481 (GRCm39) |
T303A |
possibly damaging |
Het |
Uba3 |
A |
T |
6: 97,173,869 (GRCm39) |
D105E |
probably damaging |
Het |
Vmn1r21 |
T |
C |
6: 57,821,255 (GRCm39) |
D63G |
probably benign |
Het |
Vstm2b |
T |
A |
7: 40,549,533 (GRCm39) |
I63N |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zscan22 |
T |
A |
7: 12,640,834 (GRCm39) |
C359* |
probably null |
Het |
|
Other mutations in Elf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Elf1
|
APN |
14 |
79,817,789 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02582:Elf1
|
APN |
14 |
79,773,819 (GRCm39) |
missense |
probably damaging |
0.99 |
Elvis
|
UTSW |
14 |
79,808,163 (GRCm39) |
missense |
probably damaging |
1.00 |
Erlkoenig
|
UTSW |
14 |
79,808,352 (GRCm39) |
missense |
probably damaging |
1.00 |
Hound_dog
|
UTSW |
14 |
79,810,667 (GRCm39) |
nonsense |
probably null |
|
presley
|
UTSW |
14 |
79,808,174 (GRCm39) |
missense |
probably damaging |
1.00 |
schubert
|
UTSW |
14 |
79,808,322 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0049:Elf1
|
UTSW |
14 |
79,802,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R1344:Elf1
|
UTSW |
14 |
79,798,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Elf1
|
UTSW |
14 |
79,798,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R1483:Elf1
|
UTSW |
14 |
79,818,078 (GRCm39) |
missense |
probably benign |
0.00 |
R1557:Elf1
|
UTSW |
14 |
79,804,620 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2342:Elf1
|
UTSW |
14 |
79,802,896 (GRCm39) |
intron |
probably benign |
|
R3151:Elf1
|
UTSW |
14 |
79,804,755 (GRCm39) |
critical splice donor site |
probably null |
|
R3771:Elf1
|
UTSW |
14 |
79,804,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3772:Elf1
|
UTSW |
14 |
79,804,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3773:Elf1
|
UTSW |
14 |
79,804,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4031:Elf1
|
UTSW |
14 |
79,806,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4783:Elf1
|
UTSW |
14 |
79,818,183 (GRCm39) |
missense |
probably benign |
0.01 |
R4784:Elf1
|
UTSW |
14 |
79,818,183 (GRCm39) |
missense |
probably benign |
0.01 |
R5012:Elf1
|
UTSW |
14 |
79,808,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Elf1
|
UTSW |
14 |
79,804,701 (GRCm39) |
missense |
probably benign |
|
R6329:Elf1
|
UTSW |
14 |
79,810,779 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7000:Elf1
|
UTSW |
14 |
79,808,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R7140:Elf1
|
UTSW |
14 |
79,804,710 (GRCm39) |
missense |
probably benign |
0.03 |
R7621:Elf1
|
UTSW |
14 |
79,808,322 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7641:Elf1
|
UTSW |
14 |
79,808,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R7812:Elf1
|
UTSW |
14 |
79,802,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7839:Elf1
|
UTSW |
14 |
79,773,855 (GRCm39) |
missense |
probably benign |
0.02 |
R7919:Elf1
|
UTSW |
14 |
79,798,339 (GRCm39) |
missense |
probably benign |
0.00 |
R8068:Elf1
|
UTSW |
14 |
79,773,830 (GRCm39) |
missense |
probably benign |
0.04 |
R8253:Elf1
|
UTSW |
14 |
79,773,792 (GRCm39) |
start codon destroyed |
probably null |
0.68 |
R8725:Elf1
|
UTSW |
14 |
79,810,667 (GRCm39) |
nonsense |
probably null |
|
R8727:Elf1
|
UTSW |
14 |
79,810,667 (GRCm39) |
nonsense |
probably null |
|
R9152:Elf1
|
UTSW |
14 |
79,808,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R9266:Elf1
|
UTSW |
14 |
79,798,290 (GRCm39) |
missense |
probably benign |
0.13 |
R9778:Elf1
|
UTSW |
14 |
79,817,948 (GRCm39) |
missense |
possibly damaging |
0.79 |
X0028:Elf1
|
UTSW |
14 |
79,803,018 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCTCACAGCATAAAGGGTG -3'
(R):5'- TAGACCCTGAGCATTTGGC -3'
Sequencing Primer
(F):5'- CATCCTGGCTTACGTAGAGAGATC -3'
(R):5'- CTGAGCATTTGGCCTGCG -3'
|
Posted On |
2018-03-15 |