Incidental Mutation 'R7641:Elf1'
| ID |
590262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf1
|
| Ensembl Gene |
ENSMUSG00000036461 |
| Gene Name |
E74 like ETS transcription factor 1 |
| Synonyms |
Elf-1 |
| MMRRC Submission |
045699-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R7641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79808163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 205
(G205E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000227192]
|
| AlphaFold |
Q60775 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040131
AA Change: G205E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: G205E
| 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: G205E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: G205E
| 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: G168E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5268 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
A |
5: 121,657,370 (GRCm39) |
Q641L |
probably benign |
Het |
| Aknad1 |
A |
T |
3: 108,679,291 (GRCm39) |
H474L |
probably benign |
Het |
| Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
| Chtf18 |
A |
T |
17: 25,941,249 (GRCm39) |
|
probably null |
Het |
| Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,758,625 (GRCm39) |
R2194* |
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,151,697 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
A |
C |
7: 35,394,734 (GRCm39) |
D601E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,817,256 (GRCm39) |
K4330* |
probably null |
Het |
| Gm6525 |
A |
T |
3: 84,082,150 (GRCm39) |
T24S |
probably benign |
Het |
| Golga4 |
G |
T |
9: 118,386,643 (GRCm39) |
R1255L |
probably benign |
Het |
| Gpn2 |
A |
T |
4: 133,315,970 (GRCm39) |
Q243L |
probably null |
Het |
| Grb10 |
T |
C |
11: 11,883,492 (GRCm39) |
K588E |
possibly damaging |
Het |
| Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,298,323 (GRCm39) |
M331L |
probably benign |
Het |
| Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,579,107 (GRCm39) |
R675Q |
probably damaging |
Het |
| Lonp2 |
A |
T |
8: 87,392,386 (GRCm39) |
Q484L |
probably benign |
Het |
| Map3k20 |
T |
A |
2: 72,228,705 (GRCm39) |
L308H |
probably damaging |
Het |
| Mep1b |
T |
C |
18: 21,228,034 (GRCm39) |
F546L |
possibly damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,637 (GRCm39) |
E133G |
possibly damaging |
Het |
| Msh3 |
C |
A |
13: 92,349,011 (GRCm39) |
V1074L |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pdyn |
A |
T |
2: 129,531,748 (GRCm39) |
V14E |
possibly damaging |
Het |
| Prdm16 |
T |
A |
4: 154,429,901 (GRCm39) |
H356L |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,634,961 (GRCm39) |
C453R |
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
| Rlf |
A |
G |
4: 121,016,393 (GRCm39) |
S315P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,425,335 (GRCm39) |
R1147W |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,440,320 (GRCm39) |
Y789N |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,786,676 (GRCm39) |
L289P |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,174,983 (GRCm39) |
Y308C |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,156,359 (GRCm39) |
*638Q |
probably null |
Het |
| Smchd1 |
T |
A |
17: 71,697,474 (GRCm39) |
E1155D |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,517,852 (GRCm39) |
D650N |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,949 (GRCm39) |
F97I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,572,554 (GRCm39) |
Q26113R |
possibly damaging |
Het |
| Unc5d |
A |
T |
8: 29,210,003 (GRCm39) |
N444K |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
| Vmn2r114 |
T |
C |
17: 23,527,177 (GRCm39) |
N452D |
possibly damaging |
Het |
| Vps16 |
T |
C |
2: 130,282,448 (GRCm39) |
V427A |
probably benign |
Het |
| Wdr5b |
T |
A |
16: 35,862,712 (GRCm39) |
V277D |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
| Zfp40 |
A |
G |
17: 23,397,257 (GRCm39) |
V80A |
possibly damaging |
Het |
| Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
probably damaging |
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 |
|
|
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 |
|
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'- TGGGATTAGCAAGTTCTCTGCTAG -3'
(R):5'- CCACATACCTGAGTGCTCTC -3'
Sequencing Primer
(F):5'- AGCAAGTTCTCTGCTAGATCTAAG -3'
(R):5'- TGAGTGCTCTCCCCATGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation