Incidental Mutation 'R0657:Ulk2'
| ID |
62579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk2
|
| Ensembl Gene |
ENSMUSG00000004798 |
| Gene Name |
unc-51 like kinase 2 |
| Synonyms |
A830085I22Rik, Unc51.2 |
| MMRRC Submission |
038842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R0657 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61666475-61745899 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 61698880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004920]
|
| AlphaFold |
Q9QY01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004920
|
| SMART Domains |
Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
9 |
271 |
1.1e-93 |
SMART |
|
low complexity region
|
274 |
309 |
N/A |
INTRINSIC |
|
Blast:S_TKc
|
310 |
413 |
9e-28 |
BLAST |
|
Blast:S_TKc
|
433 |
738 |
1e-29 |
BLAST |
|
low complexity region
|
751 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
791 |
N/A |
INTRINSIC |
|
Pfam:DUF3543
|
821 |
1032 |
1.8e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157049
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.3%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased anxiety-like response in males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| Aldh7a1 |
C |
T |
18: 56,670,269 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,669,570 (GRCm39) |
|
probably benign |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,753,141 (GRCm39) |
V546A |
probably damaging |
Het |
| Defb13 |
T |
C |
8: 22,436,877 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
A |
T |
13: 37,152,079 (GRCm39) |
D237E |
probably damaging |
Het |
| F8 |
T |
C |
X: 74,255,022 (GRCm39) |
Q2124R |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,369 (GRCm39) |
T91A |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,702,924 (GRCm39) |
I3463T |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,855,995 (GRCm39) |
Y289H |
probably damaging |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,449,335 (GRCm39) |
Y585D |
possibly damaging |
Het |
| Kif14 |
C |
T |
1: 136,396,840 (GRCm39) |
T382I |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,412,872 (GRCm39) |
D93E |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,183,287 (GRCm39) |
L1292I |
probably damaging |
Het |
| Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
| Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
| Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
| Pip4k2b |
A |
T |
11: 97,613,762 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,661,565 (GRCm39) |
V1054A |
possibly damaging |
Het |
| Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
| Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,655,869 (GRCm39) |
V289E |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,890 (GRCm39) |
I384N |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,736,771 (GRCm39) |
M816I |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
probably benign |
Het |
|
| Other mutations in Ulk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Ulk2
|
APN |
11 |
61,682,262 (GRCm39) |
nonsense |
probably null |
|
|
IGL02044:Ulk2
|
APN |
11 |
61,672,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02185:Ulk2
|
APN |
11 |
61,672,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Ulk2
|
APN |
11 |
61,725,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Ulk2
|
UTSW |
11 |
61,682,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB009:Ulk2
|
UTSW |
11 |
61,698,916 (GRCm39) |
missense |
probably benign |
|
|
BB017:Ulk2
|
UTSW |
11 |
61,682,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB019:Ulk2
|
UTSW |
11 |
61,698,916 (GRCm39) |
missense |
probably benign |
|
|
R0207:Ulk2
|
UTSW |
11 |
61,668,611 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0362:Ulk2
|
UTSW |
11 |
61,678,412 (GRCm39) |
missense |
probably benign |
|
|
R1076:Ulk2
|
UTSW |
11 |
61,710,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1144:Ulk2
|
UTSW |
11 |
61,690,886 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1573:Ulk2
|
UTSW |
11 |
61,670,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Ulk2
|
UTSW |
11 |
61,674,371 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1619:Ulk2
|
UTSW |
11 |
61,672,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Ulk2
|
UTSW |
11 |
61,732,165 (GRCm39) |
splice site |
probably benign |
|
|
R1845:Ulk2
|
UTSW |
11 |
61,703,564 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1883:Ulk2
|
UTSW |
11 |
61,721,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Ulk2
|
UTSW |
11 |
61,710,297 (GRCm39) |
splice site |
probably null |
|
|
R2177:Ulk2
|
UTSW |
11 |
61,682,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2416:Ulk2
|
UTSW |
11 |
61,672,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Ulk2
|
UTSW |
11 |
61,678,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2847:Ulk2
|
UTSW |
11 |
61,715,555 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4736:Ulk2
|
UTSW |
11 |
61,724,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Ulk2
|
UTSW |
11 |
61,689,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5081:Ulk2
|
UTSW |
11 |
61,694,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Ulk2
|
UTSW |
11 |
61,672,537 (GRCm39) |
missense |
probably benign |
|
|
R5346:Ulk2
|
UTSW |
11 |
61,725,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5348:Ulk2
|
UTSW |
11 |
61,674,439 (GRCm39) |
missense |
probably benign |
|
|
R5520:Ulk2
|
UTSW |
11 |
61,698,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Ulk2
|
UTSW |
11 |
61,694,622 (GRCm39) |
splice site |
probably benign |
|
|
R6153:Ulk2
|
UTSW |
11 |
61,672,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Ulk2
|
UTSW |
11 |
61,678,330 (GRCm39) |
nonsense |
probably null |
|
|
R7204:Ulk2
|
UTSW |
11 |
61,674,457 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7205:Ulk2
|
UTSW |
11 |
61,725,657 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7259:Ulk2
|
UTSW |
11 |
61,672,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Ulk2
|
UTSW |
11 |
61,710,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Ulk2
|
UTSW |
11 |
61,744,127 (GRCm39) |
nonsense |
probably null |
|
|
R7797:Ulk2
|
UTSW |
11 |
61,672,928 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7808:Ulk2
|
UTSW |
11 |
61,745,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Ulk2
|
UTSW |
11 |
61,682,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7932:Ulk2
|
UTSW |
11 |
61,698,916 (GRCm39) |
missense |
probably benign |
|
|
R8882:Ulk2
|
UTSW |
11 |
61,698,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8909:Ulk2
|
UTSW |
11 |
61,690,380 (GRCm39) |
missense |
probably benign |
|
|
R9704:Ulk2
|
UTSW |
11 |
61,716,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Ulk2
|
UTSW |
11 |
61,690,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCTCTGCAAGGACAGGAAAAGT -3'
(R):5'- AGGCAGTGTCAACCTACTGTGTCA -3'
Sequencing Primer
(F):5'- agtgtttgcaactgaatgaagg -3'
(R):5'- ACTGTGTCACCTCACAGCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation