Incidental Mutation 'R1620:Ulk4'
| ID |
174618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk4
|
| Ensembl Gene |
ENSMUSG00000040936 |
| Gene Name |
unc-51-like kinase 4 |
| Synonyms |
4932415A06Rik |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.682)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
111 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
120793520-121115225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121033871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 589
(E589D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051479]
[ENSMUST00000051565]
[ENSMUST00000170237]
[ENSMUST00000171061]
[ENSMUST00000171923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051479
AA Change: E589D
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: E589D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
4 |
277 |
9.9e-26 |
PFAM |
|
Pfam:Pkinase
|
4 |
280 |
4.6e-49 |
PFAM |
|
low complexity region
|
949 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1119 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051565
|
| SMART Domains |
Protein: ENSMUSP00000054833
Gene: ENSMUSG00000040936
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jvpp_
|
1 |
32 |
9e-6 |
SMART |
|
Blast:S_TKc
|
4 |
45 |
2e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170237
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171061
AA Change: E589D
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: E589D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
4 |
277 |
4.3e-26 |
PFAM |
|
Pfam:Pkinase
|
4 |
280 |
2.1e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171923
AA Change: E589D
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: E589D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
4 |
153 |
3.1e-14 |
PFAM |
|
Pfam:Pkinase
|
4 |
280 |
4.9e-50 |
PFAM |
|
Pfam:Pkinase_Tyr
|
165 |
277 |
6.1e-10 |
PFAM |
|
low complexity region
|
949 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1119 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1171 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
probably damaging |
Het |
|
| Other mutations in Ulk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Ulk4
|
APN |
9 |
120,997,358 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01345:Ulk4
|
APN |
9 |
121,037,228 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01432:Ulk4
|
APN |
9 |
121,095,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01807:Ulk4
|
APN |
9 |
121,084,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02139:Ulk4
|
APN |
9 |
120,970,897 (GRCm39) |
splice site |
probably null |
|
|
IGL02266:Ulk4
|
APN |
9 |
120,910,766 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02511:Ulk4
|
APN |
9 |
121,017,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02546:Ulk4
|
APN |
9 |
120,981,373 (GRCm39) |
nonsense |
probably null |
|
|
IGL02687:Ulk4
|
APN |
9 |
121,021,728 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03220:Ulk4
|
APN |
9 |
120,974,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Ulk4
|
UTSW |
9 |
121,084,237 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0031:Ulk4
|
UTSW |
9 |
121,102,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Ulk4
|
UTSW |
9 |
120,873,885 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0513:Ulk4
|
UTSW |
9 |
120,981,391 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0524:Ulk4
|
UTSW |
9 |
121,081,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1268:Ulk4
|
UTSW |
9 |
121,086,140 (GRCm39) |
splice site |
probably benign |
|
|
R1439:Ulk4
|
UTSW |
9 |
121,095,324 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1470:Ulk4
|
UTSW |
9 |
120,910,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Ulk4
|
UTSW |
9 |
120,910,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1531:Ulk4
|
UTSW |
9 |
120,873,841 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1595:Ulk4
|
UTSW |
9 |
120,873,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1835:Ulk4
|
UTSW |
9 |
120,997,250 (GRCm39) |
missense |
probably null |
1.00 |
|
R1966:Ulk4
|
UTSW |
9 |
121,086,182 (GRCm39) |
missense |
probably benign |
|
|
R2129:Ulk4
|
UTSW |
9 |
120,981,248 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2329:Ulk4
|
UTSW |
9 |
121,101,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Ulk4
|
UTSW |
9 |
121,089,105 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2878:Ulk4
|
UTSW |
9 |
121,089,105 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3734:Ulk4
|
UTSW |
9 |
121,091,055 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3769:Ulk4
|
UTSW |
9 |
121,092,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4005:Ulk4
|
UTSW |
9 |
120,997,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4024:Ulk4
|
UTSW |
9 |
120,873,915 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4321:Ulk4
|
UTSW |
9 |
120,903,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4461:Ulk4
|
UTSW |
9 |
120,985,950 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4537:Ulk4
|
UTSW |
9 |
121,092,704 (GRCm39) |
nonsense |
probably null |
|
|
R4542:Ulk4
|
UTSW |
9 |
121,092,704 (GRCm39) |
nonsense |
probably null |
|
|
R4572:Ulk4
|
UTSW |
9 |
121,021,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Ulk4
|
UTSW |
9 |
120,970,918 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4712:Ulk4
|
UTSW |
9 |
121,073,436 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4730:Ulk4
|
UTSW |
9 |
121,092,791 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4731:Ulk4
|
UTSW |
9 |
121,092,704 (GRCm39) |
nonsense |
probably null |
|
|
R4732:Ulk4
|
UTSW |
9 |
121,092,704 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Ulk4
|
UTSW |
9 |
121,092,704 (GRCm39) |
nonsense |
probably null |
|
|
R4737:Ulk4
|
UTSW |
9 |
120,902,938 (GRCm39) |
nonsense |
probably null |
|
|
R4781:Ulk4
|
UTSW |
9 |
120,932,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Ulk4
|
UTSW |
9 |
121,079,968 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4926:Ulk4
|
UTSW |
9 |
121,087,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4990:Ulk4
|
UTSW |
9 |
121,021,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6056:Ulk4
|
UTSW |
9 |
121,102,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6448:Ulk4
|
UTSW |
9 |
120,932,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6546:Ulk4
|
UTSW |
9 |
120,970,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6668:Ulk4
|
UTSW |
9 |
121,017,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Ulk4
|
UTSW |
9 |
121,087,886 (GRCm39) |
missense |
probably benign |
|
|
R6929:Ulk4
|
UTSW |
9 |
120,903,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7069:Ulk4
|
UTSW |
9 |
121,095,583 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7069:Ulk4
|
UTSW |
9 |
121,087,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7293:Ulk4
|
UTSW |
9 |
121,084,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Ulk4
|
UTSW |
9 |
120,974,125 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7301:Ulk4
|
UTSW |
9 |
120,974,125 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7337:Ulk4
|
UTSW |
9 |
121,077,993 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7395:Ulk4
|
UTSW |
9 |
121,084,178 (GRCm39) |
missense |
probably benign |
|
|
R7423:Ulk4
|
UTSW |
9 |
120,932,687 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7545:Ulk4
|
UTSW |
9 |
120,970,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7753:Ulk4
|
UTSW |
9 |
121,095,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7790:Ulk4
|
UTSW |
9 |
121,092,734 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7791:Ulk4
|
UTSW |
9 |
121,092,734 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7793:Ulk4
|
UTSW |
9 |
121,092,734 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7834:Ulk4
|
UTSW |
9 |
121,092,734 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7836:Ulk4
|
UTSW |
9 |
120,873,885 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7960:Ulk4
|
UTSW |
9 |
121,102,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Ulk4
|
UTSW |
9 |
121,095,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8203:Ulk4
|
UTSW |
9 |
120,997,274 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8246:Ulk4
|
UTSW |
9 |
120,985,941 (GRCm39) |
makesense |
probably null |
|
|
R8430:Ulk4
|
UTSW |
9 |
121,086,144 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8841:Ulk4
|
UTSW |
9 |
121,033,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Ulk4
|
UTSW |
9 |
121,017,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9092:Ulk4
|
UTSW |
9 |
120,903,003 (GRCm39) |
missense |
|
|
|
R9126:Ulk4
|
UTSW |
9 |
121,090,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9176:Ulk4
|
UTSW |
9 |
120,974,128 (GRCm39) |
missense |
probably benign |
|
|
R9235:Ulk4
|
UTSW |
9 |
120,981,217 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9713:Ulk4
|
UTSW |
9 |
120,873,862 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Ulk4
|
UTSW |
9 |
121,021,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Ulk4
|
UTSW |
9 |
121,091,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGCATGGGTCACAGAACAG -3'
(R):5'- AGGTCCGAACGTCAGATGCAAG -3'
Sequencing Primer
(F):5'- GGCTGCCATAGCAAAATCTTG -3'
(R):5'- AGTTGTAAGTTCCACGAGACCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation