Mutagenetix > Incidental Mutation

Incidental Mutation 'R7069:Ulk4'

548762

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

Is this an essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R7069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121258810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 272 (E272G)

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
AA Change: E272G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: E272G

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 benign
Transcript: ENSMUST00000170237

Predicted Effect

probably benign
Transcript: ENSMUST00000171061
AA Change: E272G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: E272G

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
AA Change: E272G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: E272G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (86/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,631,901	F97Y	probably damaging	Het
4932415D10Rik	G	A	10: 82,289,943	T2411I	probably damaging	Het
Aasdh	T	A	5: 76,876,356	I991L	probably benign	Het
Actg2	C	A	6: 83,520,763	G96V	probably damaging	Het
Adh5	T	A	3: 138,451,051	L166*	probably null	Het
Akap13	A	G	7: 75,610,262	D75G	probably benign	Het
Ank2	T	C	3: 126,946,298		probably benign	Het
Arfgap1	T	A	2: 180,974,120	D197E	probably benign	Het
Aste1	T	C	9: 105,396,707		probably null	Het
Atp8b2	T	A	3: 89,954,571	N78I	probably damaging	Het
Btbd11	C	A	10: 85,387,656	R110S	unknown	Het
Cacna2d3	T	A	14: 28,969,303		probably benign	Het
Chrd	T	A	16: 20,739,433	W809R	probably damaging	Het
Col2a1	C	T	15: 97,998,588	G60D	unknown	Het
Coro7	T	A	16: 4,679,611	M1L	probably damaging	Het
Dhx40	T	C	11: 86,797,743	I285V	probably benign	Het
Dopey1	T	C	9: 86,550,169		probably null	Het
Enox1	A	T	14: 77,611,324	R358S	probably damaging	Het
Ep400	A	G	5: 110,668,124	V2724A	probably damaging	Het
Fam196b	T	A	11: 34,402,677	C240S	possibly damaging	Het
Fam221a	A	C	6: 49,378,498	Q178P	probably damaging	Het
Fcho1	A	C	8: 71,710,497		probably null	Het
Fndc1	A	T	17: 7,769,735	V1165D	unknown	Het
Gal3st2b	A	T	1: 93,940,619	N189Y	possibly damaging	Het
Ghr	T	A	15: 3,320,484	D404V	probably damaging	Het
Glis3	A	T	19: 28,531,519	V355D	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm21671	A	T	5: 25,949,844	S253T	possibly damaging	Het
Gpr12	A	C	5: 146,583,539	V32G	possibly damaging	Het
Gspt1	T	A	16: 11,222,661	L593F	probably damaging	Het
H2-Q7	A	T	17: 35,440,031	T153S	probably damaging	Het
Hars2	A	G	18: 36,787,956	I194V	probably damaging	Het
Hdac9	T	A	12: 34,429,549	T202S	possibly damaging	Het
Hoxd13	T	C	2: 74,669,024	Y239H	probably damaging	Het
Insm2	C	T	12: 55,599,836	Q122*	probably null	Het
Ip6k1	T	A	9: 108,045,452		probably null	Het
Ippk	T	C	13: 49,461,743	V534A	probably damaging	Het
Itch	T	G	2: 155,209,994	F611C	probably damaging	Het
Itga1	A	T	13: 114,968,240	N1083K	probably damaging	Het
Itgae	A	C	11: 73,116,143	D405A	probably damaging	Het
Kif18a	T	C	2: 109,295,002	S255P	probably damaging	Het
Klhl24	C	G	16: 20,107,481	T253R	probably benign	Het
Krt81	T	A	15: 101,460,728	T307S	possibly damaging	Het
Lbr	A	T	1: 181,828,789	W265R	probably damaging	Het
Lgals3bp	T	C	11: 118,393,173	T527A	probably benign	Het
Lzts1	A	C	8: 69,140,745	V70G	probably damaging	Het
Map3k6	C	T	4: 133,251,712	P1154S	probably benign	Het
Masp1	T	C	16: 23,452,455	D681G	probably benign	Het
Mdga2	T	C	12: 66,486,752	N948D	probably benign	Het
Mettl4	A	T	17: 94,733,633	F364L	probably damaging	Het
Mosmo	T	C	7: 120,677,832	I23T	probably benign	Het
Mtg1	G	A	7: 140,143,744	V96I	probably benign	Het
Myh11	T	A	16: 14,218,939	R966S	possibly damaging	Het
Ncapg2	A	G	12: 116,424,717		probably null	Het
Nid1	G	A	13: 13,508,768	V1144I	probably benign	Het
Olfr1250	T	C	2: 89,656,566	I292V	probably benign	Het
Olfr544	C	A	7: 102,484,772	C116F	possibly damaging	Het
Olfr622	A	T	7: 103,639,960	M60K	probably damaging	Het
Oscar	T	G	7: 3,611,239	Y167S	probably damaging	Het
Pa2g4	T	C	10: 128,560,690	T200A	probably benign	Het
Pcdh7	A	G	5: 57,719,784	D227G	probably benign	Het
Plce1	G	A	19: 38,758,940	G1702R	probably damaging	Het
Plxna2	C	A	1: 194,793,904	T1144K	possibly damaging	Het
Prl8a8	G	A	13: 27,511,467	T99I	probably benign	Het
Prr29	C	A	11: 106,376,259	H83Q	probably damaging	Het
Raly	T	A	2: 154,859,744	I108N	possibly damaging	Het
Ranbp9	A	T	13: 43,419,622	S475R	probably benign	Het
Rogdi	C	A	16: 5,013,498		probably benign	Het
Rorc	C	T	3: 94,372,907	Q6*	probably null	Het
Sacs	T	C	14: 61,212,496	L3997S	probably damaging	Het
Scn2a	A	T	2: 65,764,606	Y1933F	probably benign	Het
Sik3	T	C	9: 46,210,743	L898P	probably damaging	Het
Sipa1l1	A	G	12: 82,341,406	I135M	probably damaging	Het
Slc26a3	C	A	12: 31,450,935	Q224K	probably damaging	Het
Sobp	G	T	10: 43,021,440	N716K	probably benign	Het
Spata16	A	G	3: 26,927,334	D513G	probably damaging	Het
Stac	T	C	9: 111,572,326	R351G	possibly damaging	Het
Tecta	T	A	9: 42,394,941	T64S	probably benign	Het
Tert	G	A	13: 73,628,410	V427M	probably damaging	Het
Tex15	G	A	8: 33,570,720	M333I	probably benign	Het
Tmbim4	A	T	10: 120,220,759	Q72L	probably benign	Het
Trav9n-4	T	C	14: 53,294,799	S37P	probably benign	Het
Trpv5	A	T	6: 41,675,960	M93K	possibly damaging	Het
Upb1	A	G	10: 75,412,768	N41D	probably benign	Het
Wls	A	T	3: 159,934,329	Y532F	probably damaging	Het
Zdhhc5	G	A	2: 84,715,011		probably benign	Het
Zfp109	T	C	7: 24,229,360	D216G	probably benign	Het
Zfp473	G	A	7: 44,732,374	A845V	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
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	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'- CATCAAGACTAAACCTGTTCTGGTG -3'
(R):5'- AAAACAGTCGTGCTCGTTTTG -3'

Sequencing Primer
(F):5'- AAACCTGTTCTGGTGAAGCC -3'
(R):5'- AACAGTCGTGCTCGTTTTGTAAGAC -3'

Posted On

2019-05-13