Incidental Mutation 'R1439:Ulk4'
ID 160856
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 039494-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R1439 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 120793520-121115225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 121095324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 110 (H110D)
Ref Sequence ENSEMBL: ENSMUSP00000131342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051479] [ENSMUST00000051565] [ENSMUST00000171061] [ENSMUST00000171923]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051479
AA Change: H110D

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: H110D

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 noncoding transcript
Transcript: ENSMUST00000164336
Predicted Effect possibly damaging
Transcript: ENSMUST00000171061
AA Change: H110D

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: H110D

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: H110D

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: H110D

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 0.1039 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.3%
Validation Efficiency 100% (72/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,770,908 (GRCm39) N499S probably damaging Het
AI661453 C A 17: 47,777,587 (GRCm39) probably benign Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Alkbh1 A G 12: 87,475,915 (GRCm39) V289A probably damaging Het
Bnc2 C T 4: 84,194,305 (GRCm39) E1035K probably benign Het
C1s2 T A 6: 124,607,126 (GRCm39) probably benign Het
Cabin1 A G 10: 75,492,640 (GRCm39) I1885T probably damaging Het
Col22a1 A G 15: 71,824,226 (GRCm39) probably benign Het
Cpne4 A T 9: 104,866,831 (GRCm39) T248S probably damaging Het
Cracd T C 5: 76,988,757 (GRCm39) V36A probably damaging Het
Cubn T C 2: 13,292,379 (GRCm39) N3268S probably damaging Het
Ddx10 T A 9: 53,151,787 (GRCm39) K79N probably damaging Het
Dennd1a A C 2: 37,933,412 (GRCm39) L131R probably damaging Het
Dnah9 T C 11: 65,764,958 (GRCm39) Y3862C probably benign Het
Eif3e A G 15: 43,141,824 (GRCm39) probably benign Het
Emsy T C 7: 98,250,048 (GRCm39) probably benign Het
Ep400 A T 5: 110,833,344 (GRCm39) D1959E unknown Het
Fpr-rs7 A G 17: 20,333,869 (GRCm39) I207T probably benign Het
Fubp3 C A 2: 31,488,563 (GRCm39) L140I probably damaging Het
Gas2l2 T C 11: 83,318,298 (GRCm39) D137G probably damaging Het
Git1 G T 11: 77,397,244 (GRCm39) R699L possibly damaging Het
Gnao1 T A 8: 94,690,065 (GRCm39) F27L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Itga6 T G 2: 71,664,378 (GRCm39) Y505D probably damaging Het
Itgad A T 7: 127,782,178 (GRCm39) T205S probably benign Het
Jakmip3 A T 7: 138,631,375 (GRCm39) Y574F probably benign Het
Laptm5 G T 4: 130,653,520 (GRCm39) probably benign Het
Mlana A T 19: 29,684,252 (GRCm39) R71S probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mus81 G C 19: 5,535,145 (GRCm39) R295G probably benign Het
Ncapd3 T A 9: 26,998,862 (GRCm39) probably null Het
Nectin1 A G 9: 43,703,396 (GRCm39) E218G possibly damaging Het
Nectin3 A T 16: 46,268,757 (GRCm39) Y548* probably null Het
Nif3l1 T C 1: 58,487,102 (GRCm39) F96S probably damaging Het
Ntrk1 A G 3: 87,696,918 (GRCm39) probably null Het
Obsl1 C A 1: 75,463,428 (GRCm39) E1755* probably null Het
Or4p23 T C 2: 88,577,178 (GRCm39) E18G possibly damaging Het
Osbpl9 T C 4: 108,958,353 (GRCm39) D74G probably damaging Het
Osgin1 T A 8: 120,169,852 (GRCm39) probably null Het
Otogl A G 10: 107,615,113 (GRCm39) Y1931H probably benign Het
Pmepa1 A G 2: 173,069,874 (GRCm39) I227T probably benign Het
Pprc1 T A 19: 46,052,175 (GRCm39) N564K possibly damaging Het
Prkaa1 T C 15: 5,194,225 (GRCm39) F92S probably damaging Het
Ptprd A G 4: 75,984,437 (GRCm39) F811L probably damaging Het
Rad54b A G 4: 11,606,152 (GRCm39) K520R possibly damaging Het
Rbfox1 A G 16: 7,148,297 (GRCm39) T269A possibly damaging Het
Rfwd3 T C 8: 112,004,920 (GRCm39) Y554C probably damaging Het
Rfx2 A T 17: 57,094,720 (GRCm39) V208E probably damaging Het
Rgs22 G T 15: 36,025,939 (GRCm39) probably benign Het
Rrbp1 A G 2: 143,797,032 (GRCm39) probably null Het
Ryr2 C T 13: 11,729,389 (GRCm39) probably benign Het
Sbno1 A G 5: 124,522,523 (GRCm39) probably benign Het
Secisbp2 T C 13: 51,833,759 (GRCm39) probably benign Het
Sgsm2 C A 11: 74,759,964 (GRCm39) R58L probably benign Het
Slc25a36 A C 9: 96,975,126 (GRCm39) probably benign Het
Spink4 A G 4: 40,929,121 (GRCm39) T49A possibly damaging Het
Steap3 A T 1: 120,155,550 (GRCm39) F470I probably damaging Het
Stk10 A G 11: 32,567,919 (GRCm39) Q907R probably damaging Het
Tdrd5 A G 1: 156,105,057 (GRCm39) V446A probably damaging Het
Tmem117 G A 15: 94,992,478 (GRCm39) M379I probably benign Het
Trappc12 A G 12: 28,797,160 (GRCm39) L124P possibly damaging Het
Trim9 G A 12: 70,297,867 (GRCm39) H613Y probably damaging Het
Trio A G 15: 27,898,000 (GRCm39) W371R probably damaging Het
Upb1 T C 10: 75,275,776 (GRCm39) V387A probably benign Het
Utrn A T 10: 12,619,793 (GRCm39) I284N possibly damaging Het
Vmn2r111 C A 17: 22,790,097 (GRCm39) W303L probably benign Het
Vmn2r15 G T 5: 109,441,953 (GRCm39) P160Q probably damaging Het
Wdtc1 A G 4: 133,029,118 (GRCm39) S323P probably benign Het
Zfp846 T A 9: 20,505,393 (GRCm39) C418S possibly damaging Het
Zfyve26 G T 12: 79,298,937 (GRCm39) P441Q 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
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
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'- GAGGGACTCTGTCCCAAAAGCAAC -3'
(R):5'- GAGTGGTACGAGACCAGCAATCATC -3'

Sequencing Primer
(F):5'- AGCAACTTAAACAGACAGCTTAC -3'
(R):5'- AGCTTTGCACAGGTAGGACTG -3'
Posted On 2014-03-14