Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02546:Ulk4'

297823

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

IGL02546

Quality Score

Status

Chromosome

Chromosomal Location

120793520-121115225 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 120981373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 886 (L886*)

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 null
Transcript: ENSMUST00000051479
AA Change: L886*

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: L886*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000171061

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	4	277	4.3e-26	PFAM
Pfam:Pkinase	4	280	2.1e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171923
AA Change: L886*

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: L886*

Domain	Start	End	E-Value	Type
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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	T	12: 52,927,521 (GRCm39)	V144L	probably damaging	Het
Carmil1	A	T	13: 24,299,482 (GRCm39)	N347K	probably damaging	Het
Cyp4a32	A	G	4: 115,468,520 (GRCm39)	Y334C	probably damaging	Het
Dmxl2	C	A	9: 54,273,698 (GRCm39)		probably benign	Het
Eps8	C	T	6: 137,456,064 (GRCm39)	A806T	probably benign	Het
Evl	A	G	12: 108,614,678 (GRCm39)	N24S	possibly damaging	Het
Fbxo15	T	C	18: 84,980,847 (GRCm39)		probably null	Het
Gm14179	A	T	11: 99,634,019 (GRCm39)			Het
Hepacam2	A	G	6: 3,483,568 (GRCm39)	V147A	possibly damaging	Het
Jmjd1c	C	A	10: 67,061,115 (GRCm39)	P1156Q	possibly damaging	Het
Mab21l3	A	T	3: 101,730,624 (GRCm39)	V205E	probably damaging	Het
Mad2l1	T	C	6: 66,512,951 (GRCm39)	I28T	probably damaging	Het
Minar2	T	A	18: 59,205,347 (GRCm39)	M45K	probably damaging	Het
Mroh9	T	A	1: 162,908,145 (GRCm39)	I2F	probably benign	Het
Msr1	A	T	8: 40,068,788 (GRCm39)	I302K	probably benign	Het
Msrb3	C	T	10: 120,685,906 (GRCm39)	V80I	possibly damaging	Het
Ncf4	A	G	15: 78,145,219 (GRCm39)	D269G	probably damaging	Het
Nsl1	T	A	1: 190,803,398 (GRCm39)	H156Q	probably benign	Het
Nutm1	T	C	2: 112,078,669 (GRCm39)	D1082G	probably benign	Het
Or6c216	T	A	10: 129,678,416 (GRCm39)	D165V	probably damaging	Het
Or7g20	T	A	9: 18,946,650 (GRCm39)	V77D	possibly damaging	Het
Orc4	T	C	2: 48,807,296 (GRCm39)	I212V	probably null	Het
Pde6c	A	G	19: 38,128,488 (GRCm39)	I184V	probably benign	Het
Pfkfb3	A	T	2: 11,493,589 (GRCm39)	F129Y	probably damaging	Het
Ppp3cb	T	C	14: 20,551,622 (GRCm39)	D493G	probably benign	Het
Psg29	A	G	7: 16,942,707 (GRCm39)	Y236C	probably damaging	Het
Pzp	C	T	6: 128,471,662 (GRCm39)		probably benign	Het
Semp2l2b	A	T	10: 21,942,826 (GRCm39)	W385R	probably damaging	Het
Sgf29	T	A	7: 126,271,025 (GRCm39)	V180E	probably damaging	Het
Sh3bp4	A	G	1: 89,071,266 (GRCm39)		probably benign	Het
Slc39a2	A	T	14: 52,132,620 (GRCm39)	T188S	probably benign	Het
Slc6a13	G	T	6: 121,310,323 (GRCm39)	M327I	probably benign	Het
Slitrk6	T	A	14: 110,987,226 (GRCm39)	H827L	probably benign	Het
Thumpd2	T	G	17: 81,361,884 (GRCm39)	K114T	probably benign	Het
Tnfrsf19	A	T	14: 61,210,987 (GRCm39)	C234S	possibly damaging	Het
Tns2	A	G	15: 102,019,375 (GRCm39)	D446G	probably damaging	Het
Tpm4	A	G	8: 72,898,547 (GRCm39)	E137G	probably damaging	Het
Ttn	G	A	2: 76,625,901 (GRCm39)	R13307C	probably damaging	Het
Ubqln3	A	G	7: 103,791,725 (GRCm39)	S122P	probably benign	Het
Ubr5	T	C	15: 38,008,991 (GRCm39)	D1080G	probably benign	Het
Unc80	T	C	1: 66,594,112 (GRCm39)	S1164P	possibly damaging	Het
Uspl1	T	C	5: 149,141,114 (GRCm39)	V371A	possibly damaging	Het
Virma	T	C	4: 11,494,804 (GRCm39)	V35A	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp787	A	T	7: 6,135,297 (GRCm39)	I318N	probably damaging	Het

Other mutations in Ulk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16