Mutagenetix > Incidental Mutation

Incidental Mutation 'R8087:Ulk4'

629723

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

Accession Numbers

Genbank: NM_177589; MGI: 1921622

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R8087 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121266251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 112 (L112P)

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 damaging
Transcript: ENSMUST00000051479
AA Change: L112P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: L112P

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

probably damaging
Transcript: ENSMUST00000171061
AA Change: L112P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: L112P

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: L112P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: L112P

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

1x: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	G	T	14: 32,785,969		probably benign	Het
4930451I11Rik	A	G	7: 126,830,880	V73A	possibly damaging	Het
A830010M20Rik	T	A	5: 107,485,087	Y264N	probably damaging	Het
Abcg1	T	C	17: 31,064,485	L48P	probably benign	Het
Ablim1	A	G	19: 57,182,256	W18R		Het
Acss1	A	G	2: 150,642,748	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,257,028	N769S	probably benign	Het
BC004004	T	A	17: 29,294,090	L163I	probably damaging	Het
Bco1	A	T	8: 117,108,762	T151S	possibly damaging	Het
C1ra	G	A	6: 124,513,872	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380	W527G	probably damaging	Het
Calca	T	C	7: 114,632,574	N85D	probably benign	Het
Capn13	A	G	17: 73,316,284	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,897,879	I381V	probably benign	Het
Ccr1	A	G	9: 123,964,334	V53A	probably benign	Het
Cd27	G	T	6: 125,233,362	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,190,270	V46E	probably damaging	Het
Cspp1	T	G	1: 10,104,264	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,610,876	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,753,499	S3279T	probably benign	Het
Ddx11	T	A	17: 66,149,993	Y772N	probably damaging	Het
Dgkd	T	A	1: 87,916,847	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,703,871	T270I	possibly damaging	Het
E330009J07Rik	T	A	6: 40,418,592	D194V	possibly damaging	Het
Elac2	A	G	11: 64,979,208	H33R	probably benign	Het
Emilin1	T	A	5: 30,917,100	D228E	probably damaging	Het
F2rl1	A	G	13: 95,513,999	L125P	probably damaging	Het
Fam186a	A	G	15: 99,941,844	V2173A	possibly damaging	Het
Foxp4	C	A	17: 47,904,430	G30C	probably damaging	Het
Fyn	T	A	10: 39,529,557	L273*	probably null	Het
Garnl3	G	T	2: 33,045,536	D196E	probably benign	Het
Glb1	A	T	9: 114,430,415	T220S	probably damaging	Het
Gm9268	A	T	7: 43,047,670	Y717F	probably benign	Het
Hsdl2	G	T	4: 59,592,228	A31S	unknown	Het
Irak3	T	A	10: 120,182,535	I103F	probably benign	Het
Khdrbs2	A	T	1: 32,414,976	M148L	probably benign	Het
Kif2c	A	T	4: 117,165,418	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,329,252	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,448,129	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,490,176	I39L	probably benign	Het
Muc13	G	T	16: 33,799,027	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,172,071	I721N	probably benign	Het
Ntsr1	A	T	2: 180,500,172		probably benign	Het
Nubp1	T	C	16: 10,420,348		probably null	Het
Olfr92	T	C	17: 37,111,548	I145V	probably benign	Het
Ovol3	A	C	7: 30,234,372	D108E	probably damaging	Het
Pcdhb4	C	A	18: 37,308,664	N342K	probably damaging	Het
Pcgf3	A	G	5: 108,486,236	D120G	probably benign	Het
Pde6b	T	C	5: 108,388,462	V8A	probably benign	Het
Pkhd1	G	T	1: 20,523,089	T1600K	probably damaging	Het
Pkp3	A	G	7: 141,087,638	I451V	possibly damaging	Het
Plce1	A	G	19: 38,736,521	T1439A	probably damaging	Het
Prr27	C	A	5: 87,846,309	N347K	probably benign	Het
Prss41	T	C	17: 23,837,102	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,221,389	I457V	probably benign	Het
Rspry1	G	A	8: 94,654,297	V534M	probably benign	Het
Rxrb	T	C	17: 34,035,789	V306A	probably benign	Het
Sim1	T	C	10: 50,909,555	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,996,061	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,438,749		probably benign	Het
Snx19	T	C	9: 30,464,402	M993T	probably benign	Het
Sstr2	G	A	11: 113,624,675	R140H	probably damaging	Het
Syne1	C	T	10: 5,333,034	R1553Q	probably benign	Het
Tchp	T	C	5: 114,719,604	I386T	probably damaging	Het
Traf7	G	T	17: 24,512,064	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,248,674	L798F	probably damaging	Het
Ttc3	C	T	16: 94,442,953	P1272L	probably benign	Het
Ttf2	G	T	3: 100,964,096	A83E	probably damaging	Het
Uba3	T	A	6: 97,185,383	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,412,489		probably null	Het
Unc5a	A	G	13: 54,996,172	N150S	probably damaging	Het
Vac14	A	T	8: 110,719,900	K760N	probably benign	Het
Vmn2r113	A	T	17: 22,958,737	I832L	possibly damaging	Het
Xpot	T	C	10: 121,601,327	I830V	probably benign	Het
Zfp101	G	A	17: 33,381,003	T593I	probably benign	Het
Zfp54	A	C	17: 21,434,998	T585P	probably damaging	Het
Zfp663	T	C	2: 165,353,759	D180G	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
IGL01432:Ulk4	APN	9	121266301	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGACAGCTTACATATATGACAGC -3'
(R):5'- GTGAGTGTGTGCATGCAGAC -3'

Sequencing Primer
(F):5'- CCCTGAGAAAGTCTTCAGG -3'
(R):5'- TGTGCATGCAGACACGGG -3'

Posted On

2020-06-30