Incidental Mutation 'R6541:Esf1'
| ID |
520746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esf1
|
| Ensembl Gene |
ENSMUSG00000045624 |
| Gene Name |
ESF1 nucleolar pre-rRNA processing protein homolog |
| Synonyms |
2610101J03Rik |
| MMRRC Submission |
044667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
139961803-140012484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140009799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 179
(V179A)
|
| 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: V179A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: V179A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ass1 |
T |
C |
2: 31,400,245 (GRCm39) |
V321A |
probably damaging |
Het |
| BC028528 |
T |
A |
3: 95,795,530 (GRCm39) |
M91L |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,713,054 (GRCm39) |
T998A |
probably benign |
Het |
| Cdkl3 |
T |
G |
11: 51,913,571 (GRCm39) |
L220R |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,548,040 (GRCm39) |
D117G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,779 (GRCm39) |
V1776A |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,224 (GRCm39) |
F116S |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,084,648 (GRCm39) |
Y20F |
probably damaging |
Het |
| Gm28360 |
T |
C |
1: 117,758,047 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,614,210 (GRCm39) |
V385I |
probably damaging |
Het |
| Iba57 |
A |
T |
11: 59,049,689 (GRCm39) |
D219E |
possibly damaging |
Het |
| Il36b |
T |
A |
2: 24,049,827 (GRCm39) |
V146D |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,910,734 (GRCm39) |
V176E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,571,517 (GRCm39) |
M1060V |
possibly damaging |
Het |
| Kif18b |
T |
C |
11: 102,805,092 (GRCm39) |
K351R |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,885,607 (GRCm39) |
F342L |
possibly damaging |
Het |
| Ndufa11 |
T |
A |
17: 57,024,867 (GRCm39) |
S10T |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,492 (GRCm39) |
N198Y |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,638 (GRCm39) |
F101S |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,410 (GRCm39) |
F47Y |
probably benign |
Het |
| Or7h8 |
T |
A |
9: 20,123,695 (GRCm39) |
F17I |
probably benign |
Het |
| Pacsin3 |
A |
G |
2: 91,093,129 (GRCm39) |
E207G |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,274,103 (GRCm39) |
L136Q |
probably damaging |
Het |
| Prr18 |
G |
T |
17: 8,560,168 (GRCm39) |
R108L |
possibly damaging |
Het |
| Rdh5 |
A |
G |
10: 128,753,977 (GRCm39) |
V44A |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,542,748 (GRCm39) |
T343A |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,913,268 (GRCm39) |
N480S |
probably benign |
Het |
| Spaca7b |
T |
A |
8: 11,712,613 (GRCm39) |
Q79L |
probably benign |
Het |
| Sval3 |
A |
T |
6: 41,949,380 (GRCm39) |
N73Y |
probably damaging |
Het |
| Taar7d |
T |
C |
10: 23,904,129 (GRCm39) |
I337T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,039 (GRCm39) |
Q24618L |
possibly damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,318 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,701,480 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,939 (GRCm39) |
S155P |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,090,842 (GRCm39) |
V169E |
probably damaging |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATCGTTCACCCAACTCTCATG -3'
(R):5'- GCAAAGTCAATTGAAAAGCCGATTG -3'
Sequencing Primer
(F):5'- TGTCTTTTGGTATCAAAACAGGAG -3'
(R):5'- TCAATTGAAAAGCCGATTGAAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation