Incidental Mutation 'R4486:Jrkl'
| ID |
331620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jrkl
|
| Ensembl Gene |
ENSMUSG00000079083 |
| Gene Name |
Jrk-like |
| Synonyms |
C030035D04Rik |
| MMRRC Submission |
041742-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R4486 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13242795-13245746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13245376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 95
(N95S)
|
| 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: N95S
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: N95S
| 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 |
0.1602 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
94% (45/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,227 (GRCm39) |
|
probably benign |
Het |
| Adamts18 |
G |
T |
8: 114,439,825 (GRCm39) |
P923T |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,837,804 (GRCm39) |
T1604I |
possibly damaging |
Het |
| Armc10 |
A |
G |
5: 21,858,432 (GRCm39) |
Q159R |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,553 (GRCm39) |
T425S |
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,099,343 (GRCm39) |
T36A |
possibly damaging |
Het |
| Bbx |
A |
G |
16: 50,020,777 (GRCm39) |
V799A |
probably damaging |
Het |
| Bud23 |
T |
C |
5: 135,092,779 (GRCm39) |
|
probably null |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crispld1 |
A |
G |
1: 17,823,102 (GRCm39) |
T390A |
probably benign |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,428 (GRCm39) |
D308E |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,015,729 (GRCm39) |
V3584A |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,820,086 (GRCm39) |
|
probably benign |
Het |
| Frk |
T |
C |
10: 34,484,377 (GRCm39) |
I450T |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hyi |
G |
A |
4: 118,219,674 (GRCm39) |
G237D |
probably damaging |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Nanog |
T |
C |
6: 122,689,676 (GRCm39) |
|
probably null |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Or6c76b |
T |
C |
10: 129,692,567 (GRCm39) |
F60S |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,404 (GRCm39) |
V382A |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,071,676 (GRCm39) |
N165K |
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,424,800 (GRCm39) |
I362T |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Rpusd2 |
T |
C |
2: 118,865,705 (GRCm39) |
V134A |
probably damaging |
Het |
| Serpina1c |
T |
A |
12: 103,863,259 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
A |
T |
13: 73,829,836 (GRCm39) |
I606N |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,628 (GRCm39) |
M153V |
probably benign |
Het |
| Thrb |
G |
T |
14: 17,925,640 (GRCm38) |
M1I |
probably null |
Het |
| Trbc2 |
A |
G |
6: 41,523,814 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,087,651 (GRCm39) |
S587R |
probably benign |
Het |
| Ulbp1 |
T |
A |
10: 7,397,397 (GRCm39) |
H151L |
probably benign |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,199 (GRCm39) |
L245* |
probably null |
Het |
| Vmn2r78 |
A |
C |
7: 86,569,959 (GRCm39) |
|
probably null |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
Het |
| Xrcc4 |
A |
C |
13: 90,140,707 (GRCm39) |
S167R |
possibly damaging |
Het |
| Zfp994 |
C |
T |
17: 22,420,541 (GRCm39) |
C136Y |
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 |
|
|
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'- GATAGTTTCTTTTCATGGCTGCT -3'
(R):5'- TTGGTGAAACAACAGTCAGGGA -3'
Sequencing Primer
(F):5'- TGTGCCCAGGGACAGTACATTTAC -3'
(R):5'- GTGAAACAACAGTCAGGGATATAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation