Incidental Mutation 'R6123:Esf1'
ID |
485810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esf1
|
Ensembl Gene |
ENSMUSG00000045624 |
Gene Name |
ESF1 nucleolar pre-rRNA processing protein homolog |
Synonyms |
2610101J03Rik |
MMRRC Submission |
044270-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6123 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
139961803-140012484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140010309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 9
(D9V)
|
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: D9V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000036523 Gene: ENSMUSG00000045624 AA Change: D9V
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
A |
G |
4: 152,284,402 (GRCm39) |
E24G |
probably benign |
Het |
Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,510,595 (GRCm39) |
R504I |
possibly damaging |
Het |
Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
P4ha1 |
A |
T |
10: 59,186,349 (GRCm39) |
K276I |
possibly damaging |
Het |
Pcyox1 |
A |
G |
6: 86,365,910 (GRCm39) |
S435P |
possibly damaging |
Het |
Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,402,705 (GRCm39) |
|
probably null |
Het |
Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
Tpst2 |
C |
T |
5: 112,456,084 (GRCm39) |
R208C |
probably damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
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 |
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'- CTGTAGTGCTGTGACTGATAGGAC -3'
(R):5'- GACCCAGAATAGTTTGGGTAGG -3'
Sequencing Primer
(F):5'- TGTGACTGATAGGACGACCTC -3'
(R):5'- TGTTGTGTATTTAGAGAGAGAGTGAG -3'
|
Posted On |
2017-08-16 |