Incidental Mutation 'R7545:Ulk4'
ID 584171
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 045650-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R7545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 120793520-121115225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120970904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1023 (T1023A)
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 probably benign
Transcript: ENSMUST00000051479
AA Change: T1023A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: T1023A

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 benign
Transcript: ENSMUST00000171061
SMART Domains Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936

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: T1023A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: T1023A

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: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,696,040 (GRCm39) Y159H probably damaging Het
A1cf A T 19: 31,912,190 (GRCm39) N435I possibly damaging Het
Aasdh A T 5: 77,027,861 (GRCm39) F849I probably damaging Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Adam26b C T 8: 43,974,750 (GRCm39) G84D probably damaging Het
Adamtsl1 A T 4: 85,683,092 (GRCm39) E54D probably damaging Het
Ang6 T G 14: 44,239,636 (GRCm39) I31L probably benign Het
Asic4 A G 1: 75,449,060 (GRCm39) N403S probably damaging Het
Bicd1 G A 6: 149,414,990 (GRCm39) V568M probably benign Het
Ccdc192 A G 18: 57,863,895 (GRCm39) E233G probably damaging Het
Cfap45 A T 1: 172,366,163 (GRCm39) M339L probably benign Het
Cnga4 A G 7: 105,056,286 (GRCm39) D399G probably damaging Het
Csnk1g3 C T 18: 54,028,897 (GRCm39) R17W probably damaging Het
Dnah11 A G 12: 117,894,939 (GRCm39) F3636S probably damaging Het
Dscaml1 A T 9: 45,596,681 (GRCm39) T842S probably benign Het
Ets2 C A 16: 95,516,127 (GRCm39) Q236K probably benign Het
Ext2 C A 2: 93,644,108 (GRCm39) V58L probably benign Het
Fam135b T C 15: 71,322,359 (GRCm39) K1269E possibly damaging Het
Fech A G 18: 64,597,185 (GRCm39) L258P probably damaging Het
Gls A G 1: 52,230,311 (GRCm39) S467P probably damaging Het
Gm19410 T A 8: 36,269,779 (GRCm39) D1141E probably damaging Het
Gm45861 T G 8: 28,071,032 (GRCm39) M1246R unknown Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Itga7 G T 10: 128,769,775 (GRCm39) probably benign Het
Itpripl1 A T 2: 126,983,581 (GRCm39) C180* probably null Het
Klhl33 C A 14: 51,130,631 (GRCm39) V28F probably damaging Het
Kmo A T 1: 175,481,194 (GRCm39) D304V probably damaging Het
Mier2 T C 10: 79,377,028 (GRCm39) N537S possibly damaging Het
Mroh9 A G 1: 162,902,277 (GRCm39) I112T possibly damaging Het
Mterf1a T A 5: 3,940,995 (GRCm39) E291V probably damaging Het
Muc5ac T A 7: 141,362,405 (GRCm39) N1905K unknown Het
Myt1l G A 12: 29,877,087 (GRCm39) R246Q unknown Het
Nav2 A G 7: 49,232,605 (GRCm39) E1854G probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Nf1 T A 11: 79,300,350 (GRCm39) D287E probably benign Het
Nfyc T C 4: 120,630,966 (GRCm39) probably null Het
Obscn A T 11: 58,929,725 (GRCm39) D5163E probably damaging Het
Or10d4c C T 9: 39,558,403 (GRCm39) P127L probably damaging Het
Or8g28 T A 9: 39,169,984 (GRCm39) probably null Het
Plppr1 A T 4: 49,320,002 (GRCm39) L209F possibly damaging Het
Pmm1 T C 15: 81,835,803 (GRCm39) D226G probably damaging Het
Polr1b T A 2: 128,959,766 (GRCm39) probably null Het
Ppp2r5a A G 1: 191,104,806 (GRCm39) V80A probably benign Het
Pramel17 T A 4: 101,695,159 (GRCm39) I51L probably benign Het
Psrc1 A G 3: 108,293,759 (GRCm39) probably null Het
Ralbp1 T C 17: 66,174,593 (GRCm39) T60A probably benign Het
Rasal2 A T 1: 157,020,339 (GRCm39) S217T possibly damaging Het
Rnase12 A G 14: 51,294,395 (GRCm39) F95L probably damaging Het
Rnf152 A T 1: 105,211,957 (GRCm39) I200K probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Ryk C T 9: 102,765,672 (GRCm39) T327I probably damaging Het
Sell A T 1: 163,892,903 (GRCm39) T40S probably benign Het
Slc15a2 G A 16: 36,595,964 (GRCm39) H153Y probably damaging Het
Slit3 A G 11: 35,591,139 (GRCm39) D1317G possibly damaging Het
Slx4 G A 16: 3,817,164 (GRCm39) T19M probably benign Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Specc1l T C 10: 75,080,921 (GRCm39) S106P probably benign Het
Speer1a C A 5: 11,394,884 (GRCm39) Q124K possibly damaging Het
Stc2 T C 11: 31,317,799 (GRCm39) N74S probably damaging Het
Strn3 A T 12: 51,674,543 (GRCm39) S498T probably damaging Het
Sva C T 6: 42,019,148 (GRCm39) T106I probably benign Het
Tle3 T A 9: 61,301,984 (GRCm39) L131Q possibly damaging Het
Tmem135 T A 7: 88,954,727 (GRCm39) R97W probably damaging Het
Tmx4 A G 2: 134,451,425 (GRCm39) L176S possibly damaging Het
Tomm20l C A 12: 71,164,171 (GRCm39) probably null Het
Topors A T 4: 40,262,173 (GRCm39) F370L possibly damaging Het
Unc13a C T 8: 72,094,153 (GRCm39) probably null Het
Urb2 T C 8: 124,756,491 (GRCm39) S733P probably benign Het
Vwf A G 6: 125,591,060 (GRCm39) D750G Het
Xylt1 G A 7: 117,192,812 (GRCm39) D373N 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
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
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'- GAATCTAACTCAGGCCTCCG -3'
(R):5'- ATCTGTGCGAGTGCTATGC -3'

Sequencing Primer
(F):5'- GGGCTAGCTCCCTAACTCCAC -3'
(R):5'- TGCGAGTGCTATGCTCATAG -3'
Posted On 2019-10-17