Incidental Mutation 'R1966:Ulk4'
ID 218971
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 039979-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R1966 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 120793520-121115225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121086182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 350 (M350L)
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: M350L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: M350L

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 probably benign
Transcript: ENSMUST00000170237
AA Change: M48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000171061
AA Change: M350L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: M350L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 4 277 4.3e-26 PFAM
Pfam:Pkinase 4 280 2.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171923
AA Change: M350L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: M350L

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,650 (GRCm39) V185E probably benign Het
Abca1 A C 4: 53,050,409 (GRCm39) V1608G probably damaging Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arhgef15 G T 11: 68,845,501 (GRCm39) P117Q probably damaging Het
Arhgef39 T C 4: 43,496,710 (GRCm39) S335G probably benign Het
Blm A T 7: 80,162,934 (GRCm39) F139Y possibly damaging Het
Cacna2d1 C T 5: 16,538,783 (GRCm39) R581* probably null Het
Cadps C A 14: 12,822,450 (GRCm38) E97* probably null Het
Cavin2 T A 1: 51,328,801 (GRCm39) L86Q probably damaging Het
Ccdc136 A G 6: 29,418,091 (GRCm39) E787G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cdh23 T C 10: 60,159,361 (GRCm39) Y2138C probably damaging Het
Cdk12 T A 11: 98,094,916 (GRCm39) Y241* probably null Het
Clcn4 T A 7: 7,287,184 (GRCm39) *688L probably null Het
Cntnap1 T C 11: 101,071,212 (GRCm39) V375A possibly damaging Het
Coq5 T A 5: 115,432,890 (GRCm39) probably null Het
Cyp4b1 A G 4: 115,483,076 (GRCm39) I405T probably benign Het
Det1 T C 7: 78,492,966 (GRCm39) Y346C probably damaging Het
Enpp3 A T 10: 24,683,389 (GRCm39) V276E probably damaging Het
Epb41l2 G A 10: 25,317,666 (GRCm39) R61Q probably benign Het
Fam76b G A 9: 13,739,362 (GRCm39) probably null Het
Fbxo45 A T 16: 32,052,048 (GRCm39) D238E probably benign Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gnao1 C A 8: 94,670,827 (GRCm39) T102K probably benign Het
Gpatch2 T A 1: 187,054,498 (GRCm39) D76E probably damaging Het
Gpd1l A G 9: 114,743,462 (GRCm39) I146T probably benign Het
Grik2 A T 10: 49,232,005 (GRCm39) H508Q probably damaging Het
Hapstr1 A G 16: 8,648,445 (GRCm39) E41G possibly damaging Het
Hk3 A T 13: 55,162,268 (GRCm39) F112Y probably damaging Het
Hmcn2 T G 2: 31,279,341 (GRCm39) I1781S probably damaging Het
Inhba A T 13: 16,201,221 (GRCm39) K261M probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnj3 A T 2: 55,327,343 (GRCm39) Q44L probably damaging Het
Kcns1 G T 2: 164,010,455 (GRCm39) F101L probably damaging Het
Kdm5b T A 1: 134,541,611 (GRCm39) probably null Het
Klhl14 C T 18: 21,687,730 (GRCm39) G564D probably damaging Het
Klhl18 A T 9: 110,305,658 (GRCm39) V2E probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lama5 C A 2: 179,830,145 (GRCm39) C1896F probably damaging Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Lrch3 A G 16: 32,734,755 (GRCm39) T82A possibly damaging Het
Maml3 C G 3: 52,011,560 (GRCm39) G2A unknown Het
Mapkap1 T A 2: 34,408,691 (GRCm39) N34K probably damaging Het
Muc13 A T 16: 33,634,909 (GRCm39) I488F probably damaging Het
Muc5ac A G 7: 141,357,113 (GRCm39) D1129G possibly damaging Het
Nacc1 A T 8: 85,403,010 (GRCm39) N288K probably damaging Het
Nek1 T G 8: 61,469,330 (GRCm39) I129R probably damaging Het
Nf1 T A 11: 79,302,390 (GRCm39) S319R possibly damaging Het
Nle1 C T 11: 82,792,614 (GRCm39) G432D probably damaging Het
Nol4l A G 2: 153,371,375 (GRCm39) V103A probably benign Het
Oca2 A G 7: 56,064,215 (GRCm39) I737V probably damaging Het
Or12k5 A T 2: 36,894,960 (GRCm39) F222Y possibly damaging Het
Or1j17 G A 2: 36,578,796 (GRCm39) V261I probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or51l4 G T 7: 103,404,375 (GRCm39) T139K probably damaging Het
Or52ac1 A G 7: 104,246,008 (GRCm39) C127R probably damaging Het
Or6k6 G T 1: 173,944,817 (GRCm39) S255* probably null Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Orc1 T A 4: 108,469,414 (GRCm39) I746N probably damaging Het
Pbxip1 A G 3: 89,352,795 (GRCm39) D147G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin5 T A 17: 56,419,186 (GRCm39) D412V probably damaging Het
Plxna2 A T 1: 194,327,008 (GRCm39) Y314F possibly damaging Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Prss38 T C 11: 59,264,310 (GRCm39) Y219C probably damaging Het
Ptx3 C T 3: 66,132,042 (GRCm39) R188C probably damaging Het
Ralgds T A 2: 28,435,887 (GRCm39) V504E probably damaging Het
Rere T C 4: 150,701,330 (GRCm39) Y1237H probably damaging Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Rrp15 C T 1: 186,468,402 (GRCm39) V205I possibly damaging Het
Scpep1 A G 11: 88,843,240 (GRCm39) W73R probably damaging Het
Sec23ip A G 7: 128,357,077 (GRCm39) H376R probably damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Shtn1 T G 19: 58,963,470 (GRCm39) Y615S probably benign Het
Slc20a2 C A 8: 23,035,553 (GRCm39) P184T probably damaging Het
Slc22a29 C A 19: 8,195,772 (GRCm39) R89L probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Tas2r122 A T 6: 132,688,157 (GRCm39) Y245* probably null Het
Ticrr C A 7: 79,344,483 (GRCm39) C1449* probably null Het
Tmem181a T C 17: 6,353,501 (GRCm39) V412A probably benign Het
Tmtc4 T A 14: 123,165,011 (GRCm39) E616V probably benign Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Trpm8 T A 1: 88,260,470 (GRCm39) probably null Het
Ubr2 T C 17: 47,265,845 (GRCm39) T1163A probably benign Het
Ubr4 A G 4: 139,178,555 (GRCm39) probably null Het
Ulk2 A T 11: 61,710,297 (GRCm39) probably null Het
Vmn1r185 T C 7: 26,310,956 (GRCm39) E183G probably benign Het
Vmn1r76 T A 7: 11,664,441 (GRCm39) I223F probably damaging Het
Wdr27 T C 17: 15,154,861 (GRCm39) T19A possibly damaging Het
Wdr59 T G 8: 112,177,535 (GRCm39) T973P possibly damaging Het
Wnk2 A G 13: 49,192,487 (GRCm39) S664P probably damaging Het
Zfp1004 T A 2: 150,033,827 (GRCm39) D49E probably benign Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp30 C A 7: 29,491,877 (GRCm39) Q44K probably benign Het
Zfp541 T C 7: 15,812,996 (GRCm39) S550P probably benign Het
Zw10 C A 9: 48,980,133 (GRCm39) N421K 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
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'- GGGATGAGCACTGACTCTCTTC -3'
(R):5'- AGCCCTAAGAATGGACAAGC -3'

Sequencing Primer
(F):5'- ATGAGCACTGACTCTCTTCAAGGC -3'
(R):5'- CCAGTCTTTCAGGCTAGGTAAG -3'
Posted On 2014-08-25