Incidental Mutation 'R5083:Esf1'
ID |
387228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esf1
|
Ensembl Gene |
ENSMUSG00000045624 |
Gene Name |
ESF1 nucleolar pre-rRNA processing protein homolog |
Synonyms |
2610101J03Rik |
MMRRC Submission |
042672-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
139961803-140012484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 139998991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 495
(A495E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046030]
[ENSMUST00000104994]
|
AlphaFold |
Q3V1V3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046030
AA Change: A495E
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036523 Gene: ENSMUSG00000045624 AA Change: A495E
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 |
probably benign
Transcript: ENSMUST00000104994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141086
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153769
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
C |
T |
17: 48,473,558 (GRCm39) |
V120M |
possibly damaging |
Het |
Abca6 |
T |
C |
11: 110,109,793 (GRCm39) |
D646G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,364,293 (GRCm39) |
T554A |
possibly damaging |
Het |
Atp2a3 |
G |
T |
11: 72,873,652 (GRCm39) |
V824L |
probably null |
Het |
Bet1 |
T |
C |
6: 4,077,895 (GRCm39) |
I115V |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cfap65 |
A |
G |
1: 74,945,600 (GRCm39) |
S1373P |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,711,002 (GRCm39) |
L353P |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,071,405 (GRCm39) |
|
probably null |
Het |
Comp |
C |
T |
8: 70,833,950 (GRCm39) |
T655M |
probably damaging |
Het |
Dctd |
T |
C |
8: 48,564,751 (GRCm39) |
Y18H |
probably damaging |
Het |
Ddx39b |
G |
A |
17: 35,472,005 (GRCm39) |
G348D |
possibly damaging |
Het |
Dhx36 |
A |
T |
3: 62,379,420 (GRCm39) |
S889R |
probably benign |
Het |
Dtx2 |
T |
C |
5: 136,041,044 (GRCm39) |
Y150H |
probably damaging |
Het |
Epx |
A |
G |
11: 87,763,506 (GRCm39) |
F238S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,097,512 (GRCm39) |
T154A |
probably benign |
Het |
Esco1 |
A |
G |
18: 10,594,734 (GRCm39) |
I184T |
probably benign |
Het |
Fcho1 |
C |
A |
8: 72,169,820 (GRCm39) |
R101L |
probably benign |
Het |
Foxn4 |
T |
A |
5: 114,394,988 (GRCm39) |
D313V |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,748,798 (GRCm39) |
M1T |
probably null |
Het |
Gphn |
T |
A |
12: 78,670,063 (GRCm39) |
|
probably null |
Het |
Grid2 |
C |
T |
6: 64,297,136 (GRCm39) |
Q500* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,233,694 (GRCm39) |
S1680P |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,806,538 (GRCm39) |
M155T |
possibly damaging |
Het |
Invs |
A |
T |
4: 48,396,307 (GRCm39) |
M327L |
possibly damaging |
Het |
Kdm3a |
T |
C |
6: 71,598,346 (GRCm39) |
E180G |
probably damaging |
Het |
Mgat3 |
G |
A |
15: 80,095,499 (GRCm39) |
V109M |
possibly damaging |
Het |
Mrgprb3 |
A |
G |
7: 48,292,762 (GRCm39) |
V263A |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,547,515 (GRCm39) |
V1109D |
probably benign |
Het |
Myo15b |
A |
T |
11: 115,757,482 (GRCm39) |
T1111S |
probably benign |
Het |
Myo19 |
G |
T |
11: 84,794,037 (GRCm39) |
A654S |
possibly damaging |
Het |
Mypn |
A |
T |
10: 62,954,307 (GRCm39) |
V1224D |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,560,706 (GRCm39) |
|
probably null |
Het |
Or2a52 |
G |
T |
6: 43,144,273 (GRCm39) |
A94S |
probably benign |
Het |
Or52e7 |
A |
T |
7: 104,684,618 (GRCm39) |
Y71F |
probably damaging |
Het |
Or8c10 |
G |
A |
9: 38,279,358 (GRCm39) |
C172Y |
possibly damaging |
Het |
Pdcd2 |
A |
G |
17: 15,743,084 (GRCm39) |
I247T |
possibly damaging |
Het |
Pik3c2a |
A |
T |
7: 115,941,636 (GRCm39) |
N1571K |
probably damaging |
Het |
Plagl2 |
T |
C |
2: 153,077,964 (GRCm39) |
T6A |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
Sdccag8 |
C |
A |
1: 176,652,458 (GRCm39) |
H70N |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,886,630 (GRCm39) |
R359G |
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,953,424 (GRCm39) |
I269L |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,921,341 (GRCm39) |
|
noncoding transcript |
Het |
Suclg1 |
C |
A |
6: 73,240,963 (GRCm39) |
T164K |
probably benign |
Het |
Tgds |
C |
A |
14: 118,353,491 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,643,877 (GRCm39) |
D13117G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,701,081 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,483,671 (GRCm39) |
I843N |
possibly damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,893,392 (GRCm39) |
Y582* |
probably null |
Het |
Vps33b |
G |
T |
7: 79,924,389 (GRCm39) |
K65N |
probably damaging |
Het |
Zfp1010 |
A |
G |
2: 176,957,364 (GRCm39) |
F45L |
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 |
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'- GCAAACAGTATAGTATCCAATGCAC -3'
(R):5'- CCAAGGTTGTTTCTAGCCATTG -3'
Sequencing Primer
(F):5'- GTATAGTATCCAATGCACAAACACTC -3'
(R):5'- AAGGTTGTTTCTAGCCATTGCATTTG -3'
|
Posted On |
2016-06-06 |