Incidental Mutation 'R3734:Jrkl'
| ID |
270007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jrkl
|
| Ensembl Gene |
ENSMUSG00000079083 |
| Gene Name |
Jrk-like |
| Synonyms |
C030035D04Rik |
| MMRRC Submission |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R3734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13242795-13245746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13245535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 42
(V42A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110582]
[ENSMUST00000110583]
[ENSMUST00000217444]
|
| AlphaFold |
B2RRL2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110582
AA Change: V42A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: V42A
| 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 |
noncoding transcript
Transcript: ENSMUST00000169961
|
| SMART Domains |
Protein: ENSMUSP00000126058
Gene: ENSMUSG00000079084
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
70 |
N/A |
INTRINSIC |
|
Pfam:DUF4196
|
98 |
211 |
2.2e-55 |
PFAM |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217444
|
| Meta Mutation Damage Score |
0.6004 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
probably benign |
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 |
|
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 |
|
R8864:Jrkl
|
UTSW |
9 |
13,244,326 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- CAGATATGGGATTCCCTTTCGC -3'
(R):5'- CCGCAAAATTTCCTGTCACC -3'
Sequencing Primer
(F):5'- CGCTCGCTGCTGATTGAAC -3'
(R):5'- CTGAAACAGGTCGAGTGTTCTTAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation