Incidental Mutation 'R9014:Ulk4'
ID 685846
Institutional Source Beutler Lab
Gene Symbol Ulk4
Ensembl Gene ENSMUSG00000040936
Gene Name unc-51-like kinase 4
Synonyms 4932415A06Rik
MMRRC Submission 068844-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R9014 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 120793520-121115225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121017294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 728 (I728T)
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 benign
Transcript: ENSMUST00000051479
AA Change: I728T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: I728T

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: ENSMUST00000170237
Predicted Effect probably benign
Transcript: ENSMUST00000171061
AA Change: I728T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: I728T

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: I728T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: I728T

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: 99.6%
  • 20x: 98.7%
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
Aco2 A G 15: 81,798,857 (GRCm39) N746S probably benign Het
Ahnak2 T C 12: 112,740,170 (GRCm39) T1301A possibly damaging Het
Akap6 T A 12: 53,186,403 (GRCm39) N1272K possibly damaging Het
Apc G T 18: 34,354,074 (GRCm39) probably benign Het
Arap1 A G 7: 101,053,540 (GRCm39) S1290G probably damaging Het
Arhgef25 T C 10: 127,019,607 (GRCm39) Y483C probably damaging Het
Arpp21 G T 9: 112,006,796 (GRCm39) Q138K probably damaging Het
Bahcc1 C T 11: 120,163,715 (GRCm39) A671V probably benign Het
Bahcc1 T C 11: 120,173,048 (GRCm39) S1557P probably benign Het
Bltp2 T C 11: 78,160,488 (GRCm39) L649P possibly damaging Het
Brca2 C A 5: 150,465,219 (GRCm39) T1661K probably benign Het
Casq1 T A 1: 172,038,064 (GRCm39) S356C probably damaging Het
Catsperg1 T C 7: 28,906,066 (GRCm39) Y171C probably damaging Het
Ccdc88c G C 12: 100,879,323 (GRCm39) Q1926E probably benign Het
Cdc42bpg T A 19: 6,372,289 (GRCm39) M1425K possibly damaging Het
Chac2 C T 11: 30,936,158 (GRCm39) R30Q probably damaging Het
Clca3a1 T C 3: 144,442,731 (GRCm39) D771G probably benign Het
Cyp26c1 T C 19: 37,675,844 (GRCm39) probably null Het
Dcaf8 T C 1: 172,007,530 (GRCm39) V333A possibly damaging Het
Dennd4c G A 4: 86,739,702 (GRCm39) S997N probably benign Het
Dennd4c A C 4: 86,754,666 (GRCm39) I1559L probably benign Het
Dgcr8 T G 16: 18,077,514 (GRCm39) H632P possibly damaging Het
Dhx16 C A 17: 36,193,490 (GRCm39) R278S probably benign Het
Dsel A T 1: 111,788,509 (GRCm39) Y675* probably null Het
Dsp T C 13: 38,376,700 (GRCm39) I1495T possibly damaging Het
Fam227a T A 15: 79,504,958 (GRCm39) N495I possibly damaging Het
Fcgbpl1 A G 7: 27,854,876 (GRCm39) E1834G probably damaging Het
Focad T A 4: 88,275,763 (GRCm39) M1124K unknown Het
Foxi3 A G 6: 70,937,815 (GRCm39) H349R probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Fsip2 C A 2: 82,806,898 (GRCm39) D1072E probably benign Het
Fsip2 T G 2: 82,817,075 (GRCm39) H4269Q possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gm49383 A C 12: 69,243,425 (GRCm39) Y151* probably null Het
Ighv1-26 T A 12: 114,752,033 (GRCm39) S104C probably damaging Het
Kat6a A G 8: 23,430,087 (GRCm39) N1814S unknown Het
Kif18a T A 2: 109,123,414 (GRCm39) H229Q probably damaging Het
Klk1b4 C T 7: 43,859,098 (GRCm39) R39C probably benign Het
Lgr6 T C 1: 134,931,248 (GRCm39) I269V probably damaging Het
Lrtm2 A G 6: 119,294,219 (GRCm39) V304A probably damaging Het
Lsm8 A G 6: 18,853,632 (GRCm39) D78G possibly damaging Het
Mroh2b T C 15: 4,928,670 (GRCm39) M1T probably null Het
Ms4a14 T C 19: 11,278,871 (GRCm39) E1229G possibly damaging Het
Nbeal1 G A 1: 60,329,118 (GRCm39) D2179N probably damaging Het
Nfix G A 8: 85,448,405 (GRCm39) T366M possibly damaging Het
Or12j4 A T 7: 140,045,883 (GRCm39) probably benign Het
Or56b1b A G 7: 108,164,882 (GRCm39) L40P possibly damaging Het
Or8b49 T C 9: 38,506,123 (GRCm39) V202A probably damaging Het
Or8h9 T A 2: 86,789,035 (GRCm39) I256F probably benign Het
Pear1 T C 3: 87,658,479 (GRCm39) Q964R probably benign Het
Pgk2 T G 17: 40,518,687 (GRCm39) E247A probably benign Het
Ppfia2 C T 10: 106,763,666 (GRCm39) P1220S probably benign Het
Ppp1r1b T C 11: 98,241,449 (GRCm39) S46P probably damaging Het
Ppp2ca C A 11: 52,009,510 (GRCm39) H167Q probably damaging Het
Scel A T 14: 103,822,575 (GRCm39) R396S probably benign Het
Siae T C 9: 37,557,639 (GRCm39) V482A possibly damaging Het
Skint2 A G 4: 112,483,026 (GRCm39) M144V probably benign Het
Slc23a3 A G 1: 75,109,274 (GRCm39) F219L probably benign Het
Slc4a4 G T 5: 89,280,245 (GRCm39) A348S probably damaging Het
Spin1 G T 13: 51,282,010 (GRCm39) probably null Het
Tab2 G A 10: 7,794,920 (GRCm39) R521W probably damaging Het
Tas2r118 G A 6: 23,970,049 (GRCm39) T4M probably benign Het
Tet2 T A 3: 133,172,949 (GRCm39) D1771V probably damaging Het
Tmprss15 T C 16: 78,872,691 (GRCm39) T172A probably benign Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Txnrd3 A G 6: 89,631,091 (GRCm39) Y129C probably damaging Het
Vmn1r44 G A 6: 89,870,997 (GRCm39) V248M possibly damaging Het
Wdr64 A G 1: 175,526,395 (GRCm39) I15V probably benign Het
Zdhhc17 T C 10: 110,785,544 (GRCm39) T423A probably benign Het
Zfp619 T C 7: 39,187,246 (GRCm39) I1092T probably benign Het
Zfp729b A T 13: 67,740,274 (GRCm39) Y664N 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
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
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'- ACTATTTCTCCTCGTTACCAGGAG -3'
(R):5'- GAAAGATCTGTGCTCCTGCTC -3'

Sequencing Primer
(F):5'- CTCGTTACCAGGAGACAGCAG -3'
(R):5'- TGCTCTCACAGGCCCTG -3'
Posted On 2021-10-11