Incidental Mutation 'R1185:Jrkl'
| ID |
165257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jrkl
|
| Ensembl Gene |
ENSMUSG00000079083 |
| Gene Name |
Jrk-like |
| Synonyms |
C030035D04Rik |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13242795-13245746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13244938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
| 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: D241G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: D241G
| 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 |
0.1721 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.3%
- 10x: 93.0%
- 20x: 79.2%
|
| Validation Efficiency |
|
| 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 |
|---|
| Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
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 |
|
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 |
|
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'- GCATCCAACAGAGTCAGCTTCTTCC -3'
(R):5'- CAATTTGTGCCAAACGGGCAGAG -3'
Sequencing Primer
(F):5'- gggctgaatcaatgaagctac -3'
(R):5'- gaaatgaacgattaaatggagatgag -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation