Incidental Mutation 'R8864:Jrkl'
| ID |
675814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jrkl
|
| Ensembl Gene |
ENSMUSG00000079083 |
| Gene Name |
Jrk-like |
| Synonyms |
C030035D04Rik |
| MMRRC Submission |
068680-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R8864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13242795-13245746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13244326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 445
(D445G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110582]
[ENSMUST00000110583]
[ENSMUST00000217444]
|
| AlphaFold |
B2RRL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110582
AA Change: D445G
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: D445G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-B_N
|
4 |
54 |
6e-18 |
PFAM |
|
CENPB
|
73 |
139 |
1.45e-24 |
SMART |
|
Pfam:DDE_1
|
206 |
385 |
1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110583
|
| SMART Domains |
Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
70 |
N/A |
INTRINSIC |
|
Pfam:DUF4196
|
98 |
211 |
1.8e-50 |
PFAM |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
Pfam:DUF4211
|
273 |
432 |
1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217444
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,023,497 (GRCm39) |
C297* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,981 (GRCm39) |
|
probably benign |
Het |
| Best2 |
T |
A |
8: 85,735,942 (GRCm39) |
M331L |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,852,026 (GRCm39) |
S1207R |
probably damaging |
Het |
| Cacna2d3 |
G |
T |
14: 29,055,735 (GRCm39) |
N298K |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,009,750 (GRCm39) |
Y203C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,981,616 (GRCm39) |
I3046T |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,412,287 (GRCm39) |
V252A |
probably benign |
Het |
| Ergic2 |
A |
G |
6: 148,083,393 (GRCm39) |
V355A |
probably benign |
Het |
| F13a1 |
C |
T |
13: 37,061,753 (GRCm39) |
G670D |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,031,605 (GRCm39) |
D82E |
probably benign |
Het |
| Ggnbp2 |
G |
A |
11: 84,730,902 (GRCm39) |
R376C |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,211 (GRCm39) |
F191L |
unknown |
Het |
| Ighv1-16 |
C |
T |
12: 114,629,619 (GRCm39) |
G56D |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,012,739 (GRCm39) |
T93A |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,002,718 (GRCm39) |
A2094T |
|
Het |
| Lrriq3 |
T |
A |
3: 154,893,575 (GRCm39) |
D425E |
probably damaging |
Het |
| Majin |
T |
C |
19: 6,261,650 (GRCm39) |
V55A |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,118,492 (GRCm39) |
V1192E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,150,295 (GRCm39) |
S106G |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,685,274 (GRCm39) |
R135* |
probably null |
Het |
| Naip1 |
T |
C |
13: 100,562,828 (GRCm39) |
N779S |
possibly damaging |
Het |
| Nfia |
T |
C |
4: 97,951,382 (GRCm39) |
V403A |
possibly damaging |
Het |
| Npas4 |
C |
A |
19: 5,038,556 (GRCm39) |
D121Y |
probably damaging |
Het |
| Rab3gap1 |
C |
T |
1: 127,837,630 (GRCm39) |
R231W |
probably damaging |
Het |
| Rangap1 |
C |
G |
15: 81,610,270 (GRCm39) |
|
probably benign |
Het |
| Rgs5 |
T |
A |
1: 169,517,990 (GRCm39) |
F75I |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,265,452 (GRCm39) |
D215G |
possibly damaging |
Het |
| Rwdd4a |
A |
T |
8: 48,000,876 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
G |
A |
6: 113,088,469 (GRCm39) |
R199H |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,940,988 (GRCm39) |
N241D |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,599,833 (GRCm39) |
Q2004R |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,370,473 (GRCm39) |
K236E |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,632 (GRCm39) |
F26L |
possibly damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,963,655 (GRCm39) |
E954D |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,918,022 (GRCm39) |
S1914A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,237,834 (GRCm39) |
Y32* |
probably null |
Het |
| Tnc |
C |
T |
4: 63,911,296 (GRCm39) |
R1425H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,174,724 (GRCm39) |
C1851R |
unknown |
Het |
| Wapl |
T |
A |
14: 34,414,159 (GRCm39) |
D340E |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,235 (GRCm39) |
E491G |
probably damaging |
Het |
|
| Other mutations in Jrkl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB007:Jrkl
|
UTSW |
9 |
13,245,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
BB017:Jrkl
|
UTSW |
9 |
13,245,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1185:Jrkl
|
UTSW |
9 |
13,244,938 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1185:Jrkl
|
UTSW |
9 |
13,244,938 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1185:Jrkl
|
UTSW |
9 |
13,244,938 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1432:Jrkl
|
UTSW |
9 |
13,245,337 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1914:Jrkl
|
UTSW |
9 |
13,245,609 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1915:Jrkl
|
UTSW |
9 |
13,245,609 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2079:Jrkl
|
UTSW |
9 |
13,244,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Jrkl
|
UTSW |
9 |
13,244,913 (GRCm39) |
nonsense |
probably null |
|
|
R3714:Jrkl
|
UTSW |
9 |
13,244,236 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3734:Jrkl
|
UTSW |
9 |
13,245,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4394:Jrkl
|
UTSW |
9 |
13,245,146 (GRCm39) |
nonsense |
probably null |
|
|
R4486:Jrkl
|
UTSW |
9 |
13,245,376 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5687:Jrkl
|
UTSW |
9 |
13,244,387 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5724:Jrkl
|
UTSW |
9 |
13,244,891 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6394:Jrkl
|
UTSW |
9 |
13,245,495 (GRCm39) |
nonsense |
probably null |
|
|
R7002:Jrkl
|
UTSW |
9 |
13,245,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Jrkl
|
UTSW |
9 |
13,244,162 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7851:Jrkl
|
UTSW |
9 |
13,244,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7930:Jrkl
|
UTSW |
9 |
13,245,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9062:Jrkl
|
UTSW |
9 |
13,245,338 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9163:Jrkl
|
UTSW |
9 |
13,245,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATGGTGGCTCTAAGCTTACG -3'
(R):5'- ACTATTAGCAGAGCTTGGAAACAG -3'
Sequencing Primer
(F):5'- GTGGCTCTAAGCTTACGTATTACCAG -3'
(R):5'- GCAGAGCTTGGAAACAGATTCTTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation