Incidental Mutation 'R7793:Ulk4'
ID 600055
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 045849-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R7793 (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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (94/94)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik T G 7: 30,399,368 (GRCm39) I54S probably damaging Het
2310002L09Rik C T 4: 73,861,172 (GRCm39) V143M probably benign Het
Abca1 T C 4: 53,042,367 (GRCm39) I1902V not run Het
Apob A C 12: 8,058,124 (GRCm39) D2202A probably damaging Het
Arhgap44 T A 11: 64,900,750 (GRCm39) S623C probably damaging Het
Arhgef7 T A 8: 11,874,507 (GRCm39) W713R possibly damaging Het
Axdnd1 A C 1: 156,166,313 (GRCm39) probably null Het
Bcl9l C A 9: 44,420,994 (GRCm39) H1467N probably damaging Het
Bcl9l T C 9: 44,420,263 (GRCm39) M1223T probably benign Het
Bltp2 C T 11: 78,164,031 (GRCm39) P1124L possibly damaging Het
Brinp3 A G 1: 146,622,306 (GRCm39) N236S probably benign Het
Cckbr T G 7: 105,082,798 (GRCm39) L54V probably benign Het
Cd6 G A 19: 10,775,722 (GRCm39) Q246* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Ces3a T A 8: 105,782,293 (GRCm39) probably null Het
Cgnl1 T A 9: 71,632,917 (GRCm39) N145Y probably damaging Het
Col6a5 T C 9: 105,775,934 (GRCm39) D1707G probably damaging Het
Cyp2w1 A G 5: 139,341,895 (GRCm39) T103A probably damaging Het
Dip2a A T 10: 76,114,417 (GRCm39) I1021N probably benign Het
Dnah2 T C 11: 69,386,040 (GRCm39) T981A probably benign Het
Dnah8 A G 17: 31,074,918 (GRCm39) I4546V probably benign Het
E2f8 A C 7: 48,527,823 (GRCm39) F106L probably benign Het
Ecpas T C 4: 58,853,150 (GRCm39) N395S probably damaging Het
Eif4g1 G A 16: 20,507,364 (GRCm39) V1413I probably benign Het
Epha10 G A 4: 124,808,246 (GRCm39) V688I probably benign Het
Exoc2 A T 13: 31,095,161 (GRCm39) V245D probably benign Het
Eya4 T A 10: 23,102,714 (GRCm39) E23D probably benign Het
Fbxw10 T A 11: 62,738,213 (GRCm39) W36R possibly damaging Het
Gabbr1 G A 17: 37,358,393 (GRCm39) G44S probably benign Het
Gabrg3 T A 7: 56,829,328 (GRCm39) Q143L probably benign Het
Gm14412 A C 2: 177,007,660 (GRCm39) I78M possibly damaging Het
Gm7298 T C 6: 121,737,563 (GRCm39) probably null Het
Hpse2 A T 19: 43,376,509 (GRCm39) L81Q probably damaging Het
Il18r1 A G 1: 40,510,924 (GRCm39) H3R probably benign Het
Kansl1l T C 1: 66,817,173 (GRCm39) K396E probably damaging Het
Kbtbd3 T A 9: 4,331,221 (GRCm39) S532T probably damaging Het
Lrrtm4 T C 6: 79,999,841 (GRCm39) Y418H probably damaging Het
Mfng G A 15: 78,657,265 (GRCm39) R70C probably damaging Het
Mx2 T A 16: 97,348,083 (GRCm39) I236K probably damaging Het
Mysm1 T C 4: 94,853,369 (GRCm39) Q410R probably damaging Het
Nlrp12 T C 7: 3,294,030 (GRCm39) N100S probably benign Het
Nlrp4b T A 7: 10,459,001 (GRCm39) H773Q probably benign Het
Nlrp5 T A 7: 23,123,343 (GRCm39) S735T possibly damaging Het
Nt5c2 G A 19: 46,880,020 (GRCm39) R363W probably benign Het
Or12k8 A G 2: 36,974,933 (GRCm39) F276L possibly damaging Het
Or3a10 T A 11: 73,935,614 (GRCm39) H162L possibly damaging Het
Otud7b A T 3: 96,062,528 (GRCm39) Y589F probably benign Het
P2rx1 T A 11: 72,900,079 (GRCm39) C165* probably null Het
Pax8 T C 2: 24,319,609 (GRCm39) D354G possibly damaging Het
Pdcd11 G A 19: 47,094,871 (GRCm39) V552I probably benign Het
Pde6c G T 19: 38,148,201 (GRCm39) C485F possibly damaging Het
Pex5 T C 6: 124,376,300 (GRCm39) Y434C probably benign Het
Ppargc1a T C 5: 51,619,851 (GRCm39) probably null Het
Prss2 A T 6: 41,501,886 (GRCm39) D224V possibly damaging Het
Psd2 A G 18: 36,136,032 (GRCm39) N440S probably benign Het
Psmb3 T A 11: 97,603,265 (GRCm39) D159E probably benign Het
Ptgr2 T G 12: 84,354,575 (GRCm39) L252R probably damaging Het
Ptpro A T 6: 137,393,818 (GRCm39) N829Y probably damaging Het
Rhobtb2 C A 14: 70,034,280 (GRCm39) R315L probably benign Het
Rimbp2 A T 5: 128,866,759 (GRCm39) V520D possibly damaging Het
Schip1 A T 3: 68,401,911 (GRCm39) Y24F probably benign Het
Sdha A T 13: 74,479,555 (GRCm39) V432E probably damaging Het
Sez6 T C 11: 77,868,426 (GRCm39) L929P probably damaging Het
Shcbp1l A G 1: 153,323,571 (GRCm39) I466V probably benign Het
Skor1 T C 9: 63,052,167 (GRCm39) S601G probably damaging Het
Slc6a7 A C 18: 61,138,851 (GRCm39) L219R probably damaging Het
Smok2a T C 17: 13,444,513 (GRCm39) M30T possibly damaging Het
Sp8 A G 12: 118,813,144 (GRCm39) D333G probably damaging Het
Spp1 G A 5: 104,588,200 (GRCm39) D201N probably damaging Het
Sstr3 A T 15: 78,424,588 (GRCm39) L53Q probably damaging Het
Tacc2 T A 7: 130,224,843 (GRCm39) N509K probably benign Het
Tdrd1 T C 19: 56,852,809 (GRCm39) V1030A probably damaging Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Tgm3 G A 2: 129,854,330 (GRCm39) probably null Het
Tomm5 C A 4: 45,106,651 (GRCm39) L88F unknown Het
Trak1 T A 9: 121,245,264 (GRCm39) C46* probably null Het
Trim8 A T 19: 46,504,053 (GRCm39) D535V probably damaging Het
Trpm7 A T 2: 126,665,995 (GRCm39) Y870* probably null Het
Tspoap1 T C 11: 87,655,136 (GRCm39) L286P probably benign Het
Ttll3 AAGTA AAGTAGAGTA 6: 113,376,120 (GRCm39) probably null Het
Ttn T A 2: 76,562,389 (GRCm39) I28819F probably damaging Het
Twf2 T C 9: 106,089,079 (GRCm39) S89P probably damaging Het
Unc13b T A 4: 43,172,737 (GRCm39) N1188K unknown Het
Utp6 C T 11: 79,828,556 (GRCm39) V528I probably benign Het
Vmn1r78 T C 7: 11,887,241 (GRCm39) F284S probably benign Het
Vmn2r54 T A 7: 12,366,196 (GRCm39) Q246L probably damaging Het
Vmn2r87 A G 10: 130,313,413 (GRCm39) M451T probably benign Het
Vwf C T 6: 125,663,483 (GRCm39) P2808L Het
Wdr97 T C 15: 76,243,307 (GRCm39) L989P Het
Wwc1 T C 11: 35,759,936 (GRCm39) Q693R probably benign Het
Zfp582 C T 7: 6,356,886 (GRCm39) S233L probably damaging Het
Zfp658 T A 7: 43,224,108 (GRCm39) H794Q possibly damaging Het
Zfp882 A G 8: 72,666,985 (GRCm39) D8G 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
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'- CAAGACCTCTTGTGCTGACAC -3'
(R):5'- AGTGTCATACTTCTTCTGAGCCG -3'

Sequencing Primer
(F):5'- GTGCTGACACACCCTCAGAG -3'
(R):5'- TCTTCTGAGCCGTGACAGAAC -3'
Posted On 2019-11-26