Incidental Mutation 'R7834:Ulk4'
ID 605867
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 045888-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R7834 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 120793520-121115225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121092734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 168 (E168K)
Ref Sequence ENSEMBL: ENSMUSP00000057960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051479] [ENSMUST00000051565] [ENSMUST00000171061] [ENSMUST00000171923]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051479
AA Change: E168K

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: E168K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1jvpp_ 1 32 9e-6 SMART
Blast:S_TKc 4 45 2e-8 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000171061
AA Change: E168K

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: E168K

DomainStartEndE-ValueType
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: E168K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: E168K

DomainStartEndE-ValueType
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 0.1629 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,115,068 (GRCm39) I626N probably damaging Het
Abcc12 T A 8: 87,258,179 (GRCm39) Y779F possibly damaging Het
Abcc12 C T 8: 87,284,859 (GRCm39) C252Y probably damaging Het
Adam22 A T 5: 8,180,535 (GRCm39) C521S probably damaging Het
Adcy5 C A 16: 34,977,570 (GRCm39) H368N probably benign Het
Akap13 T A 7: 75,392,390 (GRCm39) I2411N possibly damaging Het
Ankrd12 A G 17: 66,294,347 (GRCm39) F339S probably damaging Het
Bmp1 T A 14: 70,746,005 (GRCm39) R153W probably damaging Het
Bmp6 T C 13: 38,653,643 (GRCm39) F237L probably damaging Het
Cacna1c A G 6: 118,587,542 (GRCm39) S1628P Het
Ccdc141 T C 2: 76,889,889 (GRCm39) R468G possibly damaging Het
Cdc40 A T 10: 40,758,945 (GRCm39) S43T probably benign Het
Celf4 A G 18: 25,886,542 (GRCm39) M48T probably benign Het
Clec4g A T 8: 3,766,500 (GRCm39) M267K probably damaging Het
Col6a1 G T 10: 76,545,762 (GRCm39) S903R unknown Het
Creg2 A G 1: 39,689,802 (GRCm39) F103L probably damaging Het
Cul9 T C 17: 46,836,630 (GRCm39) probably null Het
Dchs1 G A 7: 105,414,774 (GRCm39) A756V probably benign Het
Diaph1 G A 18: 37,986,762 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,054,044 (GRCm39) G2550D probably damaging Het
Dst G T 1: 34,233,186 (GRCm39) R3396I probably benign Het
Dync2h1 T C 9: 7,118,953 (GRCm39) T2171A probably benign Het
Fgd2 C T 17: 29,583,925 (GRCm39) T113M probably damaging Het
Galnt6 G T 15: 100,611,984 (GRCm39) S219R probably damaging Het
Gbp6 T A 5: 105,421,131 (GRCm39) E558V probably benign Het
Gnas A T 2: 174,140,783 (GRCm39) K377* probably null Het
Hars2 T C 18: 36,922,634 (GRCm39) I389T probably damaging Het
Hsp90ab1 T C 17: 45,882,091 (GRCm39) I123V possibly damaging Het
Igkv6-14 A T 6: 70,411,992 (GRCm39) N97K possibly damaging Het
Isg20 T C 7: 78,569,867 (GRCm39) L168P probably damaging Het
Kcna1 C T 6: 126,619,703 (GRCm39) D206N probably benign Het
Kcnn3 A G 3: 89,428,661 (GRCm39) I296V probably damaging Het
Kif18a G A 2: 109,127,119 (GRCm39) R351H probably damaging Het
Klra5 A T 6: 129,876,253 (GRCm39) probably null Het
Krt9 T C 11: 100,083,492 (GRCm39) T180A probably benign Het
Lhx8 T C 3: 154,017,174 (GRCm39) S323G probably null Het
Lpcat2 T A 8: 93,644,729 (GRCm39) L506H possibly damaging Het
Map2 A G 1: 66,455,647 (GRCm39) E1447G probably damaging Het
Mapk8ip2 A T 15: 89,345,576 (GRCm39) I779F probably damaging Het
Mcmdc2 G A 1: 9,982,399 (GRCm39) probably null Het
Mrps15 G A 4: 125,949,182 (GRCm39) E217K probably damaging Het
Muc5b G A 7: 141,412,807 (GRCm39) G1918R unknown Het
Mug2 T C 6: 122,013,241 (GRCm39) I336T probably benign Het
Myh10 T C 11: 68,676,652 (GRCm39) V878A probably damaging Het
Nomo1 T C 7: 45,706,162 (GRCm39) probably null Het
Ogdhl T A 14: 32,062,666 (GRCm39) I584N probably benign Het
Pdzrn3 G A 6: 101,128,156 (GRCm39) R837C probably damaging Het
Pkhd1 A G 1: 20,382,273 (GRCm39) M2626T probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Pnliprp2 T C 19: 58,762,591 (GRCm39) S399P probably benign Het
Prelp T C 1: 133,842,510 (GRCm39) T212A probably damaging Het
Ptpn13 T A 5: 103,610,014 (GRCm39) S4T probably damaging Het
Ptprb A C 10: 116,175,329 (GRCm39) E821A probably benign Het
Rabgap1 T C 2: 37,359,419 (GRCm39) probably benign Het
Reln C T 5: 22,244,633 (GRCm39) V782M possibly damaging Het
Rpl3l T C 17: 24,952,437 (GRCm39) V52A possibly damaging Het
Rrp1b T C 17: 32,270,698 (GRCm39) V219A probably benign Het
Rtn1 T A 12: 72,350,806 (GRCm39) I468F probably damaging Het
Safb T A 17: 56,900,881 (GRCm39) M129K unknown Het
Sall1 C A 8: 89,760,002 (GRCm39) S34I probably benign Het
Slc2a8 C T 2: 32,866,919 (GRCm39) G227D probably damaging Het
Slco4a1 G T 2: 180,107,470 (GRCm39) V295L probably benign Het
Slfn5 A T 11: 82,851,278 (GRCm39) Q525L possibly damaging Het
Speg C T 1: 75,361,571 (GRCm39) T195M probably damaging Het
Syne2 A T 12: 76,014,021 (GRCm39) T3071S probably benign Het
Syngr1 G T 15: 79,995,818 (GRCm39) W119L probably damaging Het
Tenm2 A G 11: 35,915,681 (GRCm39) L1951P probably damaging Het
Ush2a G A 1: 188,465,637 (GRCm39) W2735* probably null Het
Usp17lb T A 7: 104,490,718 (GRCm39) T70S probably damaging Het
Vmn2r6 T G 3: 64,445,443 (GRCm39) N761H probably damaging Het
Vps13d A T 4: 144,835,143 (GRCm39) I2741K Het
Wdr38 A T 2: 38,890,196 (GRCm39) Q110L possibly damaging Het
Zfp872 A G 9: 22,111,406 (GRCm39) K295R probably damaging Het
Other mutations in Ulk4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1620:Ulk4 UTSW 9 121,033,871 (GRCm39) missense possibly damaging 0.81
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
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'- CAAGACCTCTTGTGCTGACAC -3'
(R):5'- CTTCTTCTGAGCCGTGACAG -3'

Sequencing Primer
(F):5'- GTGCTGACACACCCTCAGAG -3'
(R):5'- TCTTCTGAGCCGTGACAGAACAAG -3'
Posted On 2019-12-20