Incidental Mutation 'IGL00925:Esf1'
| ID |
26888 |
| 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 # |
IGL00925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
139961803-140012484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140009737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 200
(S200P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044825]
[ENSMUST00000046030]
|
| AlphaFold |
Q3V1V3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044825
|
| SMART Domains |
Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_29
|
45 |
196 |
7.1e-8 |
PFAM |
|
Pfam:Methyltransf_23
|
53 |
239 |
6.4e-16 |
PFAM |
|
Pfam:Ubie_methyltran
|
78 |
204 |
3e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
89 |
187 |
1.1e-8 |
PFAM |
|
Pfam:Methyltransf_31
|
92 |
243 |
9.6e-13 |
PFAM |
|
Pfam:Methyltransf_25
|
93 |
182 |
1.3e-9 |
PFAM |
|
Pfam:Methyltransf_12
|
94 |
184 |
2.4e-14 |
PFAM |
|
Pfam:Methyltransf_11
|
94 |
186 |
6.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046030
AA Change: S200P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: S200P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125913
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
T |
A |
6: 48,907,974 (GRCm39) |
Y325N |
probably damaging |
Het |
| Atoh8 |
A |
G |
6: 72,211,553 (GRCm39) |
V199A |
probably benign |
Het |
| Celf2 |
A |
T |
2: 6,726,388 (GRCm39) |
D6E |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,621,090 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,498,190 (GRCm39) |
Y118H |
possibly damaging |
Het |
| Glmn |
A |
T |
5: 107,705,193 (GRCm39) |
N474K |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,171,109 (GRCm39) |
V59A |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,035,974 (GRCm39) |
E565G |
probably benign |
Het |
| Or5al7 |
T |
C |
2: 85,993,264 (GRCm39) |
T10A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,816,755 (GRCm39) |
S4544P |
unknown |
Het |
| Per3 |
T |
C |
4: 151,098,055 (GRCm39) |
Y693C |
probably benign |
Het |
| Prkacb |
G |
T |
3: 146,453,797 (GRCm39) |
P167H |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,498,083 (GRCm39) |
S837P |
possibly damaging |
Het |
| Sema7a |
G |
T |
9: 57,863,121 (GRCm39) |
C264F |
probably damaging |
Het |
| Slitrk4 |
G |
T |
X: 63,315,657 (GRCm39) |
P337T |
probably damaging |
Het |
| Tango6 |
T |
G |
8: 107,422,077 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,286,331 (GRCm39) |
D775G |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,618 (GRCm39) |
N189Y |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,942,277 (GRCm39) |
N364S |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,535 (GRCm39) |
D697G |
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,615 (GRCm39) |
L297F |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,194,885 (GRCm39) |
T814A |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,978,684 (GRCm39) |
T198A |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,518 (GRCm39) |
P676L |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,815,342 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Esf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL01863:Esf1
|
APN |
2 |
139,962,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-04-17 |
Incidental Mutation