Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Ulk4'

84151

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

Genbank: NM_177589; MGI: 1921622

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121266301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 95 (E95D)

Ref Sequence

ENSEMBL: ENSMUSP00000131342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051479] [ENSMUST00000051565] [ENSMUST00000171061] [ENSMUST00000171923]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051479
AA Change: E95D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: E95D

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 damaging
Transcript: ENSMUST00000171061
AA Change: E95D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: E95D

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 damaging
Transcript: ENSMUST00000171923
AA Change: E95D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: E95D

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,003,759	V3166E	possibly damaging	Het
Aldh9a1	T	C	1: 167,355,785	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,565,781	I164F	probably damaging	Het
Anapc1	C	A	2: 128,633,408	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,319,433	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,400,205	K892E	probably benign	Het
Bpnt1	G	A	1: 185,354,021	W261*	probably null	Het
Calu	A	G	6: 29,356,553	D26G	possibly damaging	Het
Ccdc113	C	T	8: 95,538,257		probably benign	Het
Cd109	T	C	9: 78,698,123	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,830,947	K290R	probably damaging	Het
Cep131	G	A	11: 120,077,009	A140V	possibly damaging	Het
Chn1	A	T	2: 73,631,752	C236S	probably damaging	Het
Cntn4	T	A	6: 106,678,334		probably benign	Het
Crispld1	A	T	1: 17,746,801	Q194L	probably benign	Het
Csmd3	A	G	15: 47,733,499	V1981A	probably damaging	Het
Cttn	A	G	7: 144,461,306	I55T	probably damaging	Het
Ddx46	G	T	13: 55,638,022		probably benign	Het
Diaph1	A	T	18: 37,897,504	I299N	unknown	Het
Dll1	A	G	17: 15,368,506	Y636H	probably damaging	Het
Eng	A	T	2: 32,669,532	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,589,876	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,717,975	T461S	probably benign	Het
Gbf1	T	C	19: 46,279,995	Y1269H	probably damaging	Het
Gm10436	T	C	12: 88,176,432	K139E	probably benign	Het
Gm5852	A	G	3: 93,727,779	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,182,193	G323R	probably damaging	Het
Gpr155	T	A	2: 73,351,885	E661D	possibly damaging	Het
Grik4	A	T	9: 42,521,176	C842S	probably damaging	Het
Iws1	A	G	18: 32,083,466		probably benign	Het
Kif5c	A	G	2: 49,701,077	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,251,977	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,809,096	T3865A	unknown	Het
Lgr5	T	C	10: 115,453,092	K477R	probably damaging	Het
Ly75	A	T	2: 60,376,007	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,625,639	M26K	probably damaging	Het
Mettl2	T	C	11: 105,126,522	V9A	probably benign	Het
Mgat5b	A	G	11: 116,973,376	D456G	probably benign	Het
Mstn	A	G	1: 53,066,530	T344A	possibly damaging	Het
Npr1	T	A	3: 90,463,236	I308F	possibly damaging	Het
Oasl1	G	A	5: 114,937,407	V509M	probably benign	Het
Obscn	T	C	11: 59,033,757	M5727V	probably benign	Het
Olfr1219	T	A	2: 89,074,201	I297F	probably benign	Het
Olfr262	A	G	19: 12,241,527	S45P	probably damaging	Het
Olfr710	T	C	7: 106,944,541	I153M	possibly damaging	Het
Olfr726	T	A	14: 50,083,947	T245S	probably benign	Het
Pcgf1	T	C	6: 83,078,417	I11T	possibly damaging	Het
Phactr3	T	C	2: 178,283,100	V276A	probably benign	Het
Pla2g6	A	T	15: 79,317,968	M1K	probably null	Het
Plec	T	C	15: 76,190,528	E413G	probably damaging	Het
Plxna2	G	T	1: 194,644,318	A187S	possibly damaging	Het
Polq	A	T	16: 37,071,822		probably benign	Het
Prss39	A	G	1: 34,502,135	D240G	probably benign	Het
Ptpn12	A	T	5: 20,998,555	Y408*	probably null	Het
Ptprt	A	G	2: 162,268,079		probably benign	Het
Rnf6	A	T	5: 146,216,121	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,851,204	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,414,066	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,236,286	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,431,290	T527A	probably damaging	Het
Smg9	T	C	7: 24,421,266		probably null	Het
Snx25	A	G	8: 46,105,160	L270P	probably damaging	Het
Ssh1	G	T	5: 113,958,822	T165N	probably benign	Het
Stk24	T	A	14: 121,302,806	E127V	probably damaging	Het
Suco	A	G	1: 161,834,120	V914A	probably damaging	Het
Tbcd	T	A	11: 121,475,680		probably benign	Het
Tbcel	A	T	9: 42,444,521	L114Q	possibly damaging	Het
Trpm1	A	G	7: 64,235,019	D816G	probably benign	Het
Uhrf1	G	A	17: 56,318,250	V566M	probably damaging	Het
Vmn1r40	T	C	6: 89,714,219	M6T	probably benign	Het
Vmn2r59	C	T	7: 42,012,559	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,240	H367N	probably benign	Het
Wdr66	A	G	5: 123,279,952	I81M	possibly damaging	Het
Xpo6	A	G	7: 126,124,381	V585A	probably benign	Het

Other mutations in Ulk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Ulk4	APN	9	121168292	missense	possibly damaging	0.48
IGL01345:Ulk4	APN	9	121208162	missense	possibly damaging	0.48
IGL01807:Ulk4	APN	9	121255185	missense	probably damaging	1.00
IGL02139:Ulk4	APN	9	121141831	splice site	probably null
IGL02266:Ulk4	APN	9	121081700	missense	probably benign	0.10
IGL02511:Ulk4	APN	9	121188354	missense	probably damaging	1.00
IGL02546:Ulk4	APN	9	121152307	nonsense	probably null
IGL02687:Ulk4	APN	9	121192662	missense	possibly damaging	0.89
IGL03220:Ulk4	APN	9	121145336	missense	probably damaging	1.00
3-1:Ulk4	UTSW	9	121255171	missense	probably benign	0.02
R0031:Ulk4	UTSW	9	121272982	missense	probably damaging	1.00
R0433:Ulk4	UTSW	9	121044819	missense	probably benign	0.27
R0513:Ulk4	UTSW	9	121152325	missense	probably benign	0.13
R0524:Ulk4	UTSW	9	121252651	critical splice donor site	probably null
R1268:Ulk4	UTSW	9	121257074	splice site	probably benign
R1439:Ulk4	UTSW	9	121266258	missense	possibly damaging	0.58
R1470:Ulk4	UTSW	9	121081656	missense	probably benign	0.00
R1470:Ulk4	UTSW	9	121081656	missense	probably benign	0.00
R1531:Ulk4	UTSW	9	121044775	missense	probably damaging	0.97
R1595:Ulk4	UTSW	9	121044838	missense	probably damaging	0.96
R1620:Ulk4	UTSW	9	121204805	missense	possibly damaging	0.81
R1835:Ulk4	UTSW	9	121168184	missense	probably null	1.00
R1966:Ulk4	UTSW	9	121257116	missense	probably benign
R2129:Ulk4	UTSW	9	121152182	missense	probably benign	0.03
R2329:Ulk4	UTSW	9	121272887	missense	probably damaging	1.00
R2877:Ulk4	UTSW	9	121260039	missense	probably benign	0.11
R2878:Ulk4	UTSW	9	121260039	missense	probably benign	0.11
R3734:Ulk4	UTSW	9	121261989	missense	probably benign	0.21
R3769:Ulk4	UTSW	9	121263700	missense	probably benign	0.00
R4005:Ulk4	UTSW	9	121168199	missense	possibly damaging	0.94
R4024:Ulk4	UTSW	9	121044849	missense	possibly damaging	0.86
R4321:Ulk4	UTSW	9	121073996	missense	probably benign	0.00
R4461:Ulk4	UTSW	9	121156884	missense	possibly damaging	0.83
R4537:Ulk4	UTSW	9	121263638	nonsense	probably null
R4542:Ulk4	UTSW	9	121263638	nonsense	probably null
R4572:Ulk4	UTSW	9	121192764	missense	probably damaging	1.00
R4647:Ulk4	UTSW	9	121141852	missense	probably benign	0.15
R4712:Ulk4	UTSW	9	121244370	missense	probably benign	0.23
R4730:Ulk4	UTSW	9	121263725	missense	probably benign	0.05
R4731:Ulk4	UTSW	9	121263638	nonsense	probably null
R4732:Ulk4	UTSW	9	121263638	nonsense	probably null
R4733:Ulk4	UTSW	9	121263638	nonsense	probably null
R4737:Ulk4	UTSW	9	121073872	nonsense	probably null
R4781:Ulk4	UTSW	9	121103576	missense	probably benign	0.00
R4860:Ulk4	UTSW	9	121250902	missense	possibly damaging	0.68
R4926:Ulk4	UTSW	9	121258732	missense	probably benign	0.00
R4990:Ulk4	UTSW	9	121192786	missense	probably benign	0.01
R6056:Ulk4	UTSW	9	121272955	missense	probably damaging	1.00
R6448:Ulk4	UTSW	9	121103630	missense	probably damaging	0.99
R6546:Ulk4	UTSW	9	121141894	missense	probably damaging	1.00
R6668:Ulk4	UTSW	9	121188342	missense	probably damaging	1.00
R6915:Ulk4	UTSW	9	121258820	missense	probably benign
R6929:Ulk4	UTSW	9	121074015	missense	probably benign	0.02
R7069:Ulk4	UTSW	9	121258810	missense	probably benign	0.01
R7069:Ulk4	UTSW	9	121266517	missense	probably benign	0.25
R7293:Ulk4	UTSW	9	121255124	missense	probably damaging	1.00
R7299:Ulk4	UTSW	9	121145059	missense	probably benign	0.32
R7301:Ulk4	UTSW	9	121145059	missense	probably benign	0.32
R7337:Ulk4	UTSW	9	121248927	missense	probably benign	0.44
R7395:Ulk4	UTSW	9	121255112	missense	probably benign
R7423:Ulk4	UTSW	9	121103621	missense	possibly damaging	0.48
R7545:Ulk4	UTSW	9	121141838	missense	probably benign	0.00
R7753:Ulk4	UTSW	9	121266512	critical splice donor site	probably null
R7790:Ulk4	UTSW	9	121263668	missense	possibly damaging	0.70
R7791:Ulk4	UTSW	9	121263668	missense	possibly damaging	0.70
R7793:Ulk4	UTSW	9	121263668	missense	possibly damaging	0.70
R7834:Ulk4	UTSW	9	121263668	missense	possibly damaging	0.70
R7836:Ulk4	UTSW	9	121044819	missense	possibly damaging	0.72
R7960:Ulk4	UTSW	9	121272956	missense	probably damaging	1.00
R8087:Ulk4	UTSW	9	121266251	missense	probably damaging	0.99
R8203:Ulk4	UTSW	9	121168208	missense	probably damaging	0.96
R8246:Ulk4	UTSW	9	121156875	makesense	probably null
R8430:Ulk4	UTSW	9	121257078	critical splice donor site	probably null
R8841:Ulk4	UTSW	9	121204738	missense	probably damaging	1.00
R9014:Ulk4	UTSW	9	121188228	missense	probably benign	0.00
R9092:Ulk4	UTSW	9	121073937	missense
R9126:Ulk4	UTSW	9	121261922	missense	probably damaging	0.99
R9176:Ulk4	UTSW	9	121145062	missense	probably benign
R9235:Ulk4	UTSW	9	121152151	missense	probably benign	0.13
R9713:Ulk4	UTSW	9	121044796	nonsense	probably null
X0024:Ulk4	UTSW	9	121192753	missense	probably damaging	1.00
X0066:Ulk4	UTSW	9	121262606	missense	probably damaging	1.00

Posted On

2013-11-11