Incidental Mutation 'R4031:Elf1'
| ID |
313508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf1
|
| Ensembl Gene |
ENSMUSG00000036461 |
| Gene Name |
E74 like ETS transcription factor 1 |
| Synonyms |
Elf-1 |
| MMRRC Submission |
040960-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R4031 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79806723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 161
(K161Q)
|
| 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: K198Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: K198Q
| 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: K198Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: K198Q
| 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 |
probably damaging
Transcript: ENSMUST00000227192
AA Change: K161Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
95% (52/55) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,244,077 (GRCm39) |
F1025L |
probably damaging |
Het |
| Acss2 |
C |
T |
2: 155,399,130 (GRCm39) |
T477I |
probably damaging |
Het |
| Aplp2 |
G |
A |
9: 31,069,026 (GRCm39) |
P601L |
probably benign |
Het |
| Arl2bp |
T |
C |
8: 95,394,281 (GRCm39) |
I32T |
probably damaging |
Het |
| Avpi1 |
C |
A |
19: 42,113,180 (GRCm39) |
|
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
| Ccdc150 |
T |
A |
1: 54,317,970 (GRCm39) |
M303K |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,935,942 (GRCm39) |
V428A |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,227,735 (GRCm39) |
Y29H |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,622,361 (GRCm39) |
I1031T |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 7,988,584 (GRCm39) |
Y1159* |
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,789,289 (GRCm39) |
N449S |
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,756,223 (GRCm39) |
E147G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,336,679 (GRCm39) |
I5152T |
probably benign |
Het |
| Ighv9-1 |
C |
T |
12: 114,057,844 (GRCm39) |
A19T |
probably benign |
Het |
| Kcnt1 |
T |
G |
2: 25,806,060 (GRCm39) |
S1216R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 916,910 (GRCm39) |
V435E |
probably damaging |
Het |
| Klhl30 |
G |
A |
1: 91,288,879 (GRCm39) |
R546H |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,592,860 (GRCm39) |
G3753D |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,275,105 (GRCm39) |
L6303P |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,208 (GRCm39) |
S195P |
possibly damaging |
Het |
| Mindy3 |
A |
C |
2: 12,405,894 (GRCm39) |
|
probably null |
Het |
| Neurod1 |
C |
T |
2: 79,284,370 (GRCm39) |
D338N |
probably benign |
Het |
| Polr1e |
A |
T |
4: 45,018,685 (GRCm39) |
E5V |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,266,425 (GRCm39) |
S79G |
probably damaging |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,756,353 (GRCm39) |
|
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,922,486 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
A |
G |
10: 127,013,871 (GRCm39) |
V297A |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,052,189 (GRCm39) |
K47E |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,599,336 (GRCm39) |
E58G |
probably damaging |
Het |
| Spo11 |
T |
A |
2: 172,828,625 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,040,264 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,280,736 (GRCm39) |
I272T |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,039,018 (GRCm39) |
S671T |
possibly damaging |
Het |
| Usp43 |
G |
T |
11: 67,804,659 (GRCm39) |
A186D |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,483 (GRCm39) |
V679I |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,798 (GRCm39) |
A333V |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,367,455 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,029 (GRCm39) |
T1141A |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,590 (GRCm39) |
E1052V |
probably damaging |
Het |
| Zfp317 |
A |
T |
9: 19,558,008 (GRCm39) |
H163L |
possibly damaging |
Het |
| Zfp975 |
G |
A |
7: 42,312,377 (GRCm39) |
Q79* |
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 |
|
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 |
|
|
R6293:Elf1
|
UTSW |
14 |
79,798,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CTTGTGAGCTAGCCTACTTAGTGTG -3'
(R):5'- AAGGTAGTCAATGTGGTGCATG -3'
Sequencing Primer
(F):5'- TGAGAGACCAGTTTGTATGACCC -3'
(R):5'- ATGTGTGCGTCACCACAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation