Incidental Mutation 'R8702:Elac1'
| ID |
669129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elac1
|
| Ensembl Gene |
ENSMUSG00000036941 |
| Gene Name |
elaC ribonuclease Z 1 |
| Synonyms |
8430417G19Rik, 2610018O07Rik |
| MMRRC Submission |
068556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8702 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
73868109-73887550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73872291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 235
(Q235K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041138]
|
| AlphaFold |
Q8VEB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041138
AA Change: Q235K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041793
Gene: ENSMUSG00000036941
AA Change: Q235K
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
20 |
181 |
9.65e-1 |
SMART |
|
low complexity region
|
255 |
262 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transposon insertion are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,297,415 (GRCm39) |
R501G |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 77,985,732 (GRCm39) |
F712L |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 14,992,638 (GRCm39) |
A292E |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 146,042,710 (GRCm39) |
I1161T |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,152,674 (GRCm39) |
Y179H |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,688,700 (GRCm39) |
T1348S |
unknown |
Het |
| Dck |
T |
A |
5: 88,926,272 (GRCm39) |
N239K |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,399,998 (GRCm39) |
|
probably null |
Het |
| Fer1l4 |
C |
A |
2: 155,861,310 (GRCm39) |
W1952L |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,704,529 (GRCm39) |
K47E |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,015 (GRCm39) |
Y327N |
probably damaging |
Het |
| Grxcr2 |
T |
C |
18: 42,131,754 (GRCm39) |
D105G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,461,914 (GRCm39) |
L506H |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,127 (GRCm39) |
T214A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,482,750 (GRCm39) |
C1440S |
probably damaging |
Het |
| Lrrtm2 |
G |
T |
18: 35,346,018 (GRCm39) |
A428D |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,085,717 (GRCm39) |
Y5506C |
probably damaging |
Het |
| Nrros |
T |
A |
16: 31,966,589 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,839 (GRCm39) |
F258L |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Oxct1 |
T |
C |
15: 4,183,243 (GRCm39) |
S485P |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,709,489 (GRCm39) |
Q145* |
probably null |
Het |
| Pecr |
G |
T |
1: 72,306,661 (GRCm39) |
Q207K |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rev3l |
T |
A |
10: 39,714,465 (GRCm39) |
Y2396* |
probably null |
Het |
| Serbp1 |
G |
T |
6: 67,244,156 (GRCm39) |
D26Y |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,619,701 (GRCm39) |
S109T |
probably benign |
Het |
| Tpd52l2 |
C |
T |
2: 181,143,749 (GRCm39) |
H73Y |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,057,103 (GRCm39) |
W594L |
unknown |
Het |
|
| Other mutations in Elac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Elac1
|
APN |
18 |
73,871,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02527:Elac1
|
APN |
18 |
73,880,304 (GRCm39) |
nonsense |
probably null |
|
|
IGL03036:Elac1
|
APN |
18 |
73,871,985 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0043:Elac1
|
UTSW |
18 |
73,875,524 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0243:Elac1
|
UTSW |
18 |
73,875,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Elac1
|
UTSW |
18 |
73,871,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Elac1
|
UTSW |
18 |
73,872,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Elac1
|
UTSW |
18 |
73,875,717 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1900:Elac1
|
UTSW |
18 |
73,872,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Elac1
|
UTSW |
18 |
73,872,300 (GRCm39) |
missense |
probably benign |
|
|
R5266:Elac1
|
UTSW |
18 |
73,875,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5432:Elac1
|
UTSW |
18 |
73,875,864 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6301:Elac1
|
UTSW |
18 |
73,871,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Elac1
|
UTSW |
18 |
73,872,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Elac1
|
UTSW |
18 |
73,871,925 (GRCm39) |
missense |
probably benign |
|
|
R8416:Elac1
|
UTSW |
18 |
73,871,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Elac1
|
UTSW |
18 |
73,880,310 (GRCm39) |
nonsense |
probably null |
|
|
R9593:Elac1
|
UTSW |
18 |
73,872,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Elac1
|
UTSW |
18 |
73,872,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGCACAGCTTTGCAAAC -3'
(R):5'- ATACCCATGTCACAGTTGTCTG -3'
Sequencing Primer
(F):5'- AGCTTTGCAAACGCCGCTG -3'
(R):5'- TGTCACCCTCAGACAGTTGTGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation