Mutagenetix > Incidental Mutation

Incidental Mutation 'R4542:Ulk4'

333589

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

041593-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R4542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120793520-121115225 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 121092704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 178 (R178*)

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 null
Transcript: ENSMUST00000051479
AA Change: R178*

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: R178*

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 null
Transcript: ENSMUST00000171061
AA Change: R178*

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: R178*

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: R178*

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: R178*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,875 (GRCm39)	L833Q	probably damaging	Het
Adcy6	C	G	15: 98,496,869 (GRCm39)	V469L	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	T	A	8: 104,937,591 (GRCm39)	F57I	probably damaging	Het
Brinp1	T	C	4: 68,680,329 (GRCm39)	I734V	probably benign	Het
Cab39l	C	A	14: 59,734,351 (GRCm39)	D23E	probably benign	Het
Cfap54	T	C	10: 92,860,991 (GRCm39)	T839A	probably benign	Het
Clgn	A	G	8: 84,146,838 (GRCm39)	E297G	probably damaging	Het
Crip1	A	G	12: 113,117,109 (GRCm39)	Y108C	probably damaging	Het
Cxcr2	A	G	1: 74,197,688 (GRCm39)	S61G	probably benign	Het
Dph5	T	C	3: 115,722,274 (GRCm39)	S251P	probably damaging	Het
E2f7	T	A	10: 110,602,984 (GRCm39)	V333E	probably damaging	Het
Eif4g3	A	G	4: 137,930,728 (GRCm39)	D918G	probably damaging	Het
Epn1	A	G	7: 5,096,980 (GRCm39)	E254G	possibly damaging	Het
Fat1	T	C	8: 45,494,931 (GRCm39)	C4065R	probably damaging	Het
Gja1	T	C	10: 56,264,148 (GRCm39)	F169S	probably damaging	Het
Kmt2b	A	G	7: 30,279,684 (GRCm39)	I1384T	probably damaging	Het
Ltbp2	A	T	12: 84,878,593 (GRCm39)	L302*	probably null	Het
Nalcn	T	C	14: 123,558,889 (GRCm39)		silent	Het
Nlrp1b	A	C	11: 71,119,151 (GRCm39)	L48W	probably damaging	Het
Nlrp4c	G	A	7: 6,103,826 (GRCm39)	W920*	probably null	Het
Nr2f1	C	T	13: 78,337,940 (GRCm39)	G235D	probably damaging	Het
Nt5dc2	T	A	14: 30,860,095 (GRCm39)	D374E	probably benign	Het
Or2d3	GAACAACAACAA	GAACAACAA	7: 106,490,567 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,850 (GRCm39)	D120G	probably damaging	Het
Or5ak23	T	C	2: 85,244,287 (GRCm39)	D312G	probably benign	Het
Pikfyve	T	C	1: 65,283,589 (GRCm39)	I742T	probably damaging	Het
Rftn1	A	G	17: 50,362,259 (GRCm39)		probably null	Het
Rfx1	G	A	8: 84,816,866 (GRCm39)	G466S	probably damaging	Het
Scn11a	A	T	9: 119,584,200 (GRCm39)	S1472T	probably damaging	Het
Sh2d4a	A	G	8: 68,799,394 (GRCm39)	Q421R	probably benign	Het
Slc25a10	G	A	11: 120,388,807 (GRCm39)		probably null	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Spen	T	C	4: 141,204,097 (GRCm39)	Y1510C	unknown	Het
Ssu72	A	G	4: 155,817,934 (GRCm39)	Q163R	probably benign	Het
Stau1	A	G	2: 166,795,181 (GRCm39)	Y223H	probably damaging	Het
Syne3	A	T	12: 104,935,503 (GRCm39)	S92T	probably benign	Het
Ulbp1	T	C	10: 7,406,570 (GRCm39)	D45G	probably damaging	Het
Vmn1r67	A	G	7: 10,181,357 (GRCm39)	Y207C	probably damaging	Het
Vmn2r59	T	C	7: 41,695,497 (GRCm39)	D305G	possibly damaging	Het
Zbtb18	A	G	1: 177,276,232 (GRCm39)	K522E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCACATTGTCCAAGACC -3'
(R):5'- CTTCTGAGCCGTGACAGAACAAG -3'

Sequencing Primer
(F):5'- CAAGACCTCTTGTGCTGACAC -3'
(R):5'- CCCTGTGAGGCCTGAATTG -3'

Posted On

2015-08-18