Mutagenetix > Incidental Mutation

Incidental Mutation 'R4731:Ulk4'

358852

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

042021-MU

Accession Numbers

Genbank: NM_177589; MGI: 1921622

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R4731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 121263638 bp (GRCm38)

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: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (117/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,270,662	S668C	probably damaging	Het
Adcy8	A	G	15: 64,754,862	V709A	possibly damaging	Het
AI413582	A	G	17: 27,565,270		probably benign	Het
Aim2	T	A	1: 173,463,876	D282E	possibly damaging	Het
Akap9	T	A	5: 3,962,266	S990T	possibly damaging	Het
Aloxe3	A	T	11: 69,128,654	D131V	probably null	Het
Ankrd28	A	C	14: 31,755,741	C115G	probably benign	Het
Anxa2	A	T	9: 69,486,530	M217L	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
BC024978	T	A	7: 27,201,043	M149K	probably damaging	Het
Btaf1	A	G	19: 36,981,078	D665G	probably benign	Het
Ccdc36	A	G	9: 108,405,385	V368A	probably benign	Het
Cdc42bpg	T	A	19: 6,311,191	V282E	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdipt	T	A	7: 126,978,358	L92H	probably damaging	Het
Cep104	T	A	4: 153,988,426	D380E	probably damaging	Het
Cfap74	T	A	4: 155,463,602		probably benign	Het
Chd1	A	T	17: 17,377,817	E55D	probably benign	Het
Cldnd2	T	A	7: 43,442,189	C65S	possibly damaging	Het
Clec9a	G	T	6: 129,416,336	A108S	probably benign	Het
Cog7	T	C	7: 121,964,244	D215G	probably benign	Het
Col9a3	G	A	2: 180,610,681	E373K	probably damaging	Het
Deptor	C	A	15: 55,181,010	H191N	probably benign	Het
Dgkz	A	T	2: 91,938,339	I699N	probably damaging	Het
Dnah7c	T	A	1: 46,770,173	N3550K	probably damaging	Het
Dnah8	A	G	17: 30,775,061	K3384R	probably null	Het
Dnajc13	CT	C	9: 104,186,805		probably benign	Het
Dnhd1	C	A	7: 105,673,849	N521K	probably benign	Het
Efhb	G	A	17: 53,426,244	T533I	probably damaging	Het
Ercc4	A	T	16: 13,147,607	H701L	probably damaging	Het
Ern1	A	T	11: 106,434,850		probably benign	Het
Etfb	T	C	7: 43,444,200	V17A	probably damaging	Het
Evc	T	A	5: 37,323,797	M235L	probably benign	Het
Fbxw22	T	C	9: 109,378,869	I445V	probably benign	Het
Fmnl2	A	G	2: 53,117,069	T764A	possibly damaging	Het
Fto	T	A	8: 91,409,714	D205E	probably damaging	Het
Galntl6	G	A	8: 58,427,813	P147L	probably damaging	Het
Gm6871	T	C	7: 41,546,749	I39V	probably benign	Het
Gpr83	A	G	9: 14,866,174		probably benign	Het
Gucy1a2	A	T	9: 3,759,424	H410L	probably benign	Het
Helb	T	C	10: 120,094,288		probably null	Het
Ifi214	T	C	1: 173,526,591	Q171R	probably benign	Het
Ifit1bl1	T	C	19: 34,594,321	I245M	probably benign	Het
Igdcc3	A	G	9: 65,181,997	T492A	probably damaging	Het
Ighv13-1	T	C	12: 114,267,632		probably benign	Het
Igkv4-50	T	C	6: 69,701,000	K40R	probably benign	Het
Igkv8-18	T	A	6: 70,356,296	I74N	probably damaging	Het
Kbtbd7	T	C	14: 79,428,800	*691Q	probably null	Het
Khnyn	T	A	14: 55,886,489		probably null	Het
Kif26a	G	A	12: 112,175,573	A754T	probably benign	Het
Llgl1	T	A	11: 60,706,225	L194*	probably null	Het
Map3k12	G	T	15: 102,501,282	T686N	probably benign	Het
Myo18a	C	A	11: 77,829,759	P741Q	probably benign	Het
Ncaph2	G	A	15: 89,355,827		probably benign	Het
Nfkb2	A	G	19: 46,308,964	Q406R	possibly damaging	Het
Olfr1378	G	A	11: 50,969,266	V83M	possibly damaging	Het
Olfr138	T	A	17: 38,275,547	Y259N	probably damaging	Het
Olfr744	T	A	14: 50,618,569	C116S	probably benign	Het
Olfr874	A	T	9: 37,746,535	T134S	probably benign	Het
Olfr94	T	C	17: 37,197,024	T315A	probably damaging	Het
Olfr980	A	T	9: 40,006,268	I227N	probably damaging	Het
Ostm1	C	T	10: 42,678,979		probably benign	Het
Pabpc1	A	T	15: 36,599,284	V389E	probably benign	Het
Pank4	A	T	4: 154,971,390	M291L	probably benign	Het
Pex6	A	G	17: 46,722,288	D579G	probably benign	Het
Pex6	A	G	17: 46,724,707		probably null	Het
Phc2	C	T	4: 128,707,971	T73M	probably damaging	Het
Pkp4	G	A	2: 59,334,932		probably null	Het
Plekhg1	T	A	10: 3,957,506	S808T	probably benign	Het
Plk5	A	T	10: 80,358,797	H118L	probably damaging	Het
Pnlip	T	C	19: 58,676,487	I249T	probably benign	Het
Ptov1	T	C	7: 44,867,109	D134G	probably benign	Het
Ptprb	T	C	10: 116,319,333	V664A	probably benign	Het
Ptprz1	T	A	6: 23,002,610	S1566R	probably benign	Het
Pum1	T	C	4: 130,718,193	S158P	probably benign	Het
Rae1	G	T	2: 173,015,392		probably benign	Het
Ros1	A	C	10: 52,142,229	W778G	probably damaging	Het
Ryr2	A	T	13: 11,577,909	M4653K	possibly damaging	Het
Sacm1l	G	A	9: 123,590,830	V553I	probably benign	Het
Samd4b	G	A	7: 28,406,663	R377W	probably benign	Het
Selenoo	A	G	15: 89,099,328	Q524R	probably benign	Het
Slc30a3	T	C	5: 31,093,294	S22G	probably benign	Het
Slc35g2	A	C	9: 100,552,502	V372G	probably benign	Het
Slc5a8	T	C	10: 88,925,787		probably null	Het
Slc7a7	T	C	14: 54,408,733	Y91C	probably damaging	Het
Slc7a9	T	A	7: 35,453,563	Y135*	probably null	Het
Slfn1	A	T	11: 83,121,835	E259V	probably damaging	Het
Slmap	T	C	14: 26,468,535	N156S	probably damaging	Het
Sorbs1	T	A	19: 40,314,689	R485S	probably benign	Het
Sptbn2	T	A	19: 4,742,480	F1388I	probably damaging	Het
Stac2	C	T	11: 98,039,695	G349E	probably damaging	Het
Tigd2	T	A	6: 59,211,415	H422Q	probably benign	Het
Tle1	T	C	4: 72,125,019	N538D	possibly damaging	Het
Tmtc1	A	C	6: 148,284,980		probably null	Het
Tns3	C	T	11: 8,450,986	R1104H	probably benign	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Trank1	T	C	9: 111,390,410	F2072L	probably damaging	Het
Trim6	T	C	7: 104,232,648	Y369H	probably damaging	Het
Trpc7	A	G	13: 56,804,553	S541P	probably damaging	Het
Trpv4	T	C	5: 114,622,753	D732G	possibly damaging	Het
Tsc2	C	A	17: 24,603,275	V1141F	possibly damaging	Het
Tspoap1	T	A	11: 87,765,647	V257E	probably benign	Het
Ttn	A	T	2: 76,943,011	M2395K	unknown	Het
Ubd	A	C	17: 37,195,702	T160P	probably benign	Het
Ubr7	A	G	12: 102,769,226	T315A	probably benign	Het
Ugt2b36	G	T	5: 87,081,538	Y156*	probably null	Het
Urod	G	A	4: 116,991,673	A92V	possibly damaging	Het
Utp20	T	C	10: 88,754,520	D2364G	possibly damaging	Het
Vmn1r87	A	T	7: 13,132,327	M11K	possibly damaging	Het
Vstm4	A	G	14: 32,917,902	K96E	possibly damaging	Het
Wwp1	T	C	4: 19,661,990	D172G	probably benign	Het
Zfhx3	A	G	8: 108,956,084	Q3385R	unknown	Het
Zfp229	C	T	17: 21,745,286	H166Y	possibly damaging	Het
Zfp738	A	T	13: 67,669,914	C653S	probably damaging	Het
Zp2	C	A	7: 120,138,120	V282L	probably damaging	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
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

Predicted Primers

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

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

Posted On

2015-11-11