Incidental Mutation 'IGL01863:Esf1'
| ID |
178411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Esf1
|
| Ensembl Gene |
ENSMUSG00000045624 |
| Gene Name |
ESF1 nucleolar pre-rRNA processing protein homolog |
| Synonyms |
2610101J03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL01863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
139961803-140012484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139962599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 824
(M824K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046030]
|
| AlphaFold |
Q3V1V3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046030
AA Change: M824K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: M824K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
91 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
258 |
N/A |
INTRINSIC |
|
coiled coil region
|
261 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
552 |
N/A |
INTRINSIC |
|
coiled coil region
|
628 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
740 |
N/A |
INTRINSIC |
|
Pfam:NUC153
|
753 |
781 |
4.1e-15 |
PFAM |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
| Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
| Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
| Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
| Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
| Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
| Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
| Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
| Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
| Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
| Other mutations in Esf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Esf1
|
APN |
2 |
140,009,737 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01075:Esf1
|
APN |
2 |
139,962,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01777:Esf1
|
APN |
2 |
139,999,092 (GRCm39) |
splice site |
probably null |
|
|
IGL01982:Esf1
|
APN |
2 |
140,006,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02040:Esf1
|
APN |
2 |
139,971,181 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02063:Esf1
|
APN |
2 |
140,006,377 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03063:Esf1
|
APN |
2 |
139,996,706 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4418001:Esf1
|
UTSW |
2 |
140,001,697 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0255:Esf1
|
UTSW |
2 |
139,990,843 (GRCm39) |
unclassified |
probably benign |
|
|
R0388:Esf1
|
UTSW |
2 |
139,962,791 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0564:Esf1
|
UTSW |
2 |
140,000,506 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0655:Esf1
|
UTSW |
2 |
139,990,799 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0831:Esf1
|
UTSW |
2 |
140,010,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Esf1
|
UTSW |
2 |
140,000,406 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1984:Esf1
|
UTSW |
2 |
139,990,806 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3981:Esf1
|
UTSW |
2 |
140,000,476 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4736:Esf1
|
UTSW |
2 |
139,966,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5083:Esf1
|
UTSW |
2 |
139,998,991 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5083:Esf1
|
UTSW |
2 |
140,000,499 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5222:Esf1
|
UTSW |
2 |
140,000,503 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5347:Esf1
|
UTSW |
2 |
139,996,801 (GRCm39) |
nonsense |
probably null |
|
|
R5654:Esf1
|
UTSW |
2 |
140,006,148 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6123:Esf1
|
UTSW |
2 |
140,010,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6132:Esf1
|
UTSW |
2 |
140,001,699 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6299:Esf1
|
UTSW |
2 |
139,965,554 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6484:Esf1
|
UTSW |
2 |
140,000,458 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6541:Esf1
|
UTSW |
2 |
140,009,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6674:Esf1
|
UTSW |
2 |
139,962,726 (GRCm39) |
nonsense |
probably null |
|
|
R7203:Esf1
|
UTSW |
2 |
140,006,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7309:Esf1
|
UTSW |
2 |
139,967,011 (GRCm39) |
splice site |
probably null |
|
|
R7379:Esf1
|
UTSW |
2 |
139,996,854 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8131:Esf1
|
UTSW |
2 |
139,990,751 (GRCm39) |
nonsense |
probably null |
|
|
R8270:Esf1
|
UTSW |
2 |
139,997,033 (GRCm39) |
unclassified |
probably benign |
|
|
R9066:Esf1
|
UTSW |
2 |
139,990,693 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9186:Esf1
|
UTSW |
2 |
139,990,792 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9618:Esf1
|
UTSW |
2 |
140,001,714 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9688:Esf1
|
UTSW |
2 |
140,010,095 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF006:Esf1
|
UTSW |
2 |
140,006,294 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation