Incidental Mutation 'R0564:Esf1'
ID |
46050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esf1
|
Ensembl Gene |
ENSMUSG00000045624 |
Gene Name |
ESF1 nucleolar pre-rRNA processing protein homolog |
Synonyms |
2610101J03Rik |
MMRRC Submission |
038755-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R0564 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
139961803-140012484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 140000506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 427
(Y427N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046030]
|
AlphaFold |
Q3V1V3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046030
AA Change: Y427N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000036523 Gene: ENSMUSG00000045624 AA Change: Y427N
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: ENSMUST00000137005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141086
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153769
|
Meta Mutation Damage Score |
0.9622 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
A |
G |
10: 80,180,681 (GRCm39) |
V127A |
probably damaging |
Het |
Alox12 |
T |
A |
11: 70,143,662 (GRCm39) |
D202V |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,779,655 (GRCm39) |
Y405H |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,609,593 (GRCm39) |
M18K |
probably damaging |
Het |
Atad2 |
C |
A |
15: 57,989,229 (GRCm39) |
|
probably benign |
Het |
Birc6 |
T |
A |
17: 74,932,238 (GRCm39) |
|
probably benign |
Het |
Ccdc126 |
T |
C |
6: 49,311,076 (GRCm39) |
M28T |
possibly damaging |
Het |
Cdc16 |
A |
T |
8: 13,831,618 (GRCm39) |
D617V |
probably damaging |
Het |
Cep135 |
G |
A |
5: 76,763,557 (GRCm39) |
E516K |
probably damaging |
Het |
Cep135 |
G |
T |
5: 76,786,796 (GRCm39) |
M1081I |
probably benign |
Het |
Col6a3 |
A |
C |
1: 90,735,456 (GRCm39) |
V731G |
probably damaging |
Het |
Cstdc6 |
A |
T |
16: 36,143,346 (GRCm39) |
Y34* |
probably null |
Het |
Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
Dip2b |
C |
A |
15: 100,060,600 (GRCm39) |
Y258* |
probably null |
Het |
Dnah17 |
A |
G |
11: 117,973,807 (GRCm39) |
V1900A |
probably damaging |
Het |
Dpysl2 |
A |
T |
14: 67,042,895 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,139,432 (GRCm39) |
L1401Q |
probably damaging |
Het |
Fbln1 |
T |
A |
15: 85,111,308 (GRCm39) |
V154D |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,563,530 (GRCm39) |
F326L |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,813 (GRCm39) |
N303I |
possibly damaging |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Iigp1 |
G |
A |
18: 60,523,523 (GRCm39) |
V214M |
probably damaging |
Het |
Luzp2 |
A |
G |
7: 54,485,710 (GRCm39) |
K2E |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,601,574 (GRCm39) |
L410P |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,967,712 (GRCm39) |
F452S |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,156,831 (GRCm39) |
F335L |
possibly damaging |
Het |
Mpp3 |
T |
G |
11: 101,896,173 (GRCm39) |
K450T |
possibly damaging |
Het |
Mtmr4 |
T |
A |
11: 87,489,714 (GRCm39) |
V79E |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,585 (GRCm39) |
I263V |
probably benign |
Het |
Or52p2 |
T |
C |
7: 102,237,738 (GRCm39) |
I71V |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,005 (GRCm39) |
V74G |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,710,383 (GRCm39) |
W113* |
probably null |
Het |
Phaf1 |
T |
A |
8: 105,966,603 (GRCm39) |
|
probably benign |
Het |
Phxr4 |
A |
T |
9: 13,342,993 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
T |
A |
12: 11,507,897 (GRCm39) |
H606Q |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,829,670 (GRCm39) |
I187K |
possibly damaging |
Het |
Rps27 |
A |
G |
3: 90,120,230 (GRCm39) |
|
probably benign |
Het |
Sema3e |
T |
A |
5: 14,286,099 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
G |
A |
2: 32,643,064 (GRCm39) |
C749Y |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,656 (GRCm39) |
D210G |
probably benign |
Het |
Smap2 |
G |
A |
4: 120,834,174 (GRCm39) |
P155S |
probably benign |
Het |
Snrk |
C |
T |
9: 121,995,610 (GRCm39) |
T463M |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,233,964 (GRCm39) |
|
probably benign |
Het |
Tmem132d |
C |
T |
5: 127,861,842 (GRCm39) |
E760K |
probably damaging |
Het |
Tmem184c |
A |
T |
8: 78,332,789 (GRCm39) |
|
probably null |
Het |
Tmem235 |
A |
T |
11: 117,751,674 (GRCm39) |
I33F |
possibly damaging |
Het |
Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
Top1 |
G |
A |
2: 160,556,185 (GRCm39) |
R548Q |
probably damaging |
Het |
Trio |
T |
C |
15: 27,805,908 (GRCm39) |
N527D |
probably damaging |
Het |
Upf3a |
A |
G |
8: 13,845,656 (GRCm39) |
K252E |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTTAAGAGATGAACTggggctgga -3'
(R):5'- AGCATTTGAGCTGATATCTCACAAGCA -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- TGTGGAGCAGGAATTACAGG -3'
|
Posted On |
2013-06-11 |