Mutagenetix > Incidental Mutation

Incidental Mutation 'R1268:Ulk4'

151215

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

039335-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R1268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120793520-121115225 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 121086140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000051479

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936

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 benign
Transcript: ENSMUST00000171923

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (41/41)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,108,248 (GRCm39)	V1257A	probably damaging	Het
Aplnr	A	G	2: 84,967,775 (GRCm39)	T267A	possibly damaging	Het
Arap2	A	G	5: 62,887,964 (GRCm39)	S461P	probably benign	Het
Brpf3	A	G	17: 29,055,530 (GRCm39)	T1160A	probably damaging	Het
Col5a1	A	T	2: 27,892,501 (GRCm39)	T1005S	unknown	Het
Crebrf	CTTTT	CTTT	17: 26,958,570 (GRCm39)		probably null	Het
Fmo6	A	T	1: 162,748,086 (GRCm39)	I326N	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Gnat1	A	G	9: 107,553,076 (GRCm39)		probably benign	Het
Hs6st1	T	A	1: 36,108,007 (GRCm39)	V90D	probably damaging	Het
Igsf11	A	G	16: 38,845,216 (GRCm39)	T257A	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Mab21l3	C	T	3: 101,742,363 (GRCm39)	E66K	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mybl2	A	G	2: 162,916,636 (GRCm39)	N429S	probably benign	Het
Mycbp2	G	A	14: 103,446,218 (GRCm39)	T1837I	probably damaging	Het
Myh7b	C	A	2: 155,455,966 (GRCm39)	S117*	probably null	Het
Nek1	C	A	8: 61,475,298 (GRCm39)	A202E	probably damaging	Het
Notum	C	T	11: 120,549,493 (GRCm39)	W159*	probably null	Het
Ntn1	TCCTCGGC	TC	11: 68,103,959 (GRCm39)		probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2w2	C	T	13: 21,758,498 (GRCm39)	V43M	probably benign	Het
Or4c58	A	G	2: 89,674,498 (GRCm39)	I273T	probably damaging	Het
Or4f57	G	T	2: 111,791,222 (GRCm39)	N65K	possibly damaging	Het
Or5b99	T	C	19: 12,976,625 (GRCm39)	Y92H	possibly damaging	Het
Or5p69	A	T	7: 107,967,002 (GRCm39)	I102F	probably benign	Het
Or7g12	T	C	9: 18,899,652 (GRCm39)	F123L	probably damaging	Het
Plk4	T	A	3: 40,765,804 (GRCm39)	V659D	probably damaging	Het
Rbm27	T	C	18: 42,466,367 (GRCm39)	S866P	probably damaging	Het
Rnaseh2b	A	T	14: 62,609,904 (GRCm39)	K303N	possibly damaging	Het
Samd9l	C	T	6: 3,376,113 (GRCm39)	V383I	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slc35f2	T	A	9: 53,705,197 (GRCm39)	Y62*	probably null	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Ulk1	A	G	5: 110,938,143 (GRCm39)	S610P	probably damaging	Het
Vdr	T	C	15: 97,755,356 (GRCm39)	N389S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CAATGGCACTCATGACGATGTGTTC -3'
(R):5'- TCATCGGCTCAGCCAGTCTTTCAG -3'

Sequencing Primer
(F):5'- TGTTCTGCACACGCACAC -3'
(R):5'- CCAGTCTTTCAGGCTAGGTAAG -3'

Posted On

2014-01-29