Incidental Mutation 'R8253:Elf1'
| ID |
640149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf1
|
| Ensembl Gene |
ENSMUSG00000036461 |
| Gene Name |
E74 like ETS transcription factor 1 |
| Synonyms |
Elf-1 |
| MMRRC Submission |
067679-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R8253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 79773792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
|
| AlphaFold |
Q60775 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040131
AA Change: M1T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: M1T
| 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 null
Transcript: ENSMUST00000110835
AA Change: M1T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: M1T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,874,702 (GRCm39) |
E493G |
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,493,840 (GRCm39) |
D313E |
probably damaging |
Het |
| Ap1m1 |
T |
A |
8: 73,006,730 (GRCm39) |
V242E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,024,159 (GRCm39) |
S670T |
possibly damaging |
Het |
| Atad2b |
C |
T |
12: 5,024,160 (GRCm39) |
S670L |
probably benign |
Het |
| Atp23 |
C |
T |
10: 126,704,543 (GRCm39) |
G197S |
probably benign |
Het |
| Avpr1b |
A |
T |
1: 131,537,154 (GRCm39) |
T313S |
probably benign |
Het |
| Cblc |
A |
G |
7: 19,520,157 (GRCm39) |
I362T |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,661,207 (GRCm39) |
S1106T |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,905,683 (GRCm39) |
M193V |
probably benign |
Het |
| Csde1 |
C |
A |
3: 102,946,037 (GRCm39) |
N10K |
probably damaging |
Het |
| Csnk2a2 |
T |
C |
8: 96,215,005 (GRCm39) |
Y24C |
|
Het |
| Cyb5r4 |
G |
T |
9: 86,941,108 (GRCm39) |
L420F |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dner |
C |
T |
1: 84,512,598 (GRCm39) |
G323E |
probably damaging |
Het |
| Fam13c |
T |
C |
10: 70,389,033 (GRCm39) |
S520P |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,028,294 (GRCm39) |
H885L |
possibly damaging |
Het |
| Gabra2 |
A |
G |
5: 71,249,413 (GRCm39) |
I30T |
probably benign |
Het |
| Gm6793 |
T |
A |
8: 112,741,640 (GRCm39) |
M1L |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,061,556 (GRCm39) |
L76P |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,243,406 (GRCm39) |
I381T |
probably benign |
Het |
| Lyrm7 |
T |
C |
11: 54,741,227 (GRCm39) |
I36V |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,814,305 (GRCm39) |
I906V |
probably benign |
Het |
| Mup5 |
C |
T |
4: 61,752,811 (GRCm39) |
A71T |
probably benign |
Het |
| Ndufaf6 |
G |
A |
4: 11,059,086 (GRCm39) |
R248W |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,538 (GRCm39) |
I226L |
possibly damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Palm |
A |
T |
10: 79,643,511 (GRCm39) |
K80* |
probably null |
Het |
| Pcyox1 |
C |
T |
6: 86,366,044 (GRCm39) |
R390K |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,207,459 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
T |
A |
16: 16,086,406 (GRCm39) |
V689D |
probably damaging |
Het |
| Prkar2a |
G |
T |
9: 108,617,638 (GRCm39) |
R232L |
probably damaging |
Het |
| Rasgrp4 |
C |
T |
7: 28,838,287 (GRCm39) |
T87M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,842,439 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Shd |
T |
C |
17: 56,283,295 (GRCm39) |
V309A |
|
Het |
| Skint7 |
C |
T |
4: 111,834,675 (GRCm39) |
Q20* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,237 (GRCm39) |
T173K |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,433,013 (GRCm39) |
F1073L |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,731,317 (GRCm39) |
D559V |
probably damaging |
Het |
| Tbr1 |
G |
T |
2: 61,635,585 (GRCm39) |
Q178H |
probably benign |
Het |
| Tmem145 |
T |
G |
7: 25,006,939 (GRCm39) |
Y114D |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,850,323 (GRCm39) |
M377V |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,770 (GRCm39) |
Y2242* |
probably null |
Het |
| Xdh |
T |
G |
17: 74,225,377 (GRCm39) |
Q475P |
possibly damaging |
Het |
| Zbtb42 |
T |
G |
12: 112,646,746 (GRCm39) |
L307R |
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 |
|
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 |
|
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'- CAAGCAGGTCTGAAGGACTC -3'
(R):5'- GTGAGTCCCAAATACTACTTCCTTG -3'
Sequencing Primer
(F):5'- AAGCAGGTCTGAAGGACTCCTTTC -3'
(R):5'- TACTTCCTTGTTACCACATCAAAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation