Incidental Mutation 'R7293:Ulk4'
ID 566567
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R7293 (G1)
Quality Score 172.009
Status Validated
Chromosome 9
Chromosomal Location 120793520-121115225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 121084190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 427 (N427T)
Ref Sequence ENSEMBL: ENSMUSP00000057960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051479] [ENSMUST00000051565] [ENSMUST00000170237] [ENSMUST00000171061] [ENSMUST00000171923]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051479
AA Change: N427T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: N427T

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 probably damaging
Transcript: ENSMUST00000170237
AA Change: N125T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000171061
AA Change: N427T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: N427T

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 4 277 4.3e-26 PFAM
Pfam:Pkinase 4 280 2.1e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171923
AA Change: N427T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: N427T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Acsl5 G T 19: 55,279,642 (GRCm39) W460L probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cc2d1b T C 4: 108,488,873 (GRCm39) F770L probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Copb1 A T 7: 113,818,837 (GRCm39) M827K probably damaging Het
Crocc C T 4: 140,770,867 (GRCm39) A351T probably benign Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Itgb2l A C 16: 96,227,996 (GRCm39) Y502* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pld1 C A 3: 28,141,435 (GRCm39) T666K probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign 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
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'- TCAAGCAGGATGAAGCGTACC -3'
(R):5'- ATGTGAAGACCCATCAGGCTG -3'

Sequencing Primer
(F):5'- CCACTGCACTGACGTGTAAGTG -3'
(R):5'- CTTGAAGTTCATTGACACAGGCATCC -3'
Posted On 2019-06-26