Mutagenetix > Incidental Mutation

Incidental Mutation 'R4926:Ulk4'

379043

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

042527-MU

Accession Numbers

Genbank: NM_177589; MGI: 1921622

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R4926 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121258732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 298 (F298S)

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: F298S

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

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: F298S

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
AA Change: F298S

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

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: F298S

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: F298S

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

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: F298S

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,395,299	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,300,032	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,531,987	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,637,944	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,339,123		probably null	Het
Atg2a	T	C	19: 6,257,533	L1499P	probably damaging	Het
Bnc2	A	G	4: 84,276,179	S110P	probably damaging	Het
Ccdc171	T	C	4: 83,558,592		probably benign	Het
Ccdc7a	A	G	8: 128,980,054		probably benign	Het
Chd5	T	C	4: 152,383,311	S1689P	probably benign	Het
Corin	A	G	5: 72,372,182	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,061,153	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,991,456	R260C	probably damaging	Het
Dock6	T	C	9: 21,845,791	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,763,218		probably benign	Het
Epop	T	C	11: 97,628,317	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,890,688		probably benign	Het
Exph5	T	C	9: 53,376,625	S1669P	possibly damaging	Het
Faah	A	T	4: 115,999,626		probably benign	Het
Fanca	A	G	8: 123,303,985	C453R	probably benign	Het
Fcgbp	T	A	7: 28,086,235	C366S	probably damaging	Het
Fmn2	A	G	1: 174,502,415	T124A	unknown	Het
Foxi3	C	T	6: 70,957,012	S161L	probably damaging	Het
Foxo3	A	T	10: 42,197,024	V499E	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gbgt1	T	C	2: 28,503,170	V90A	probably damaging	Het
Gm839	A	C	6: 89,212,599		noncoding transcript	Het
Gtf3c2	T	C	5: 31,169,123	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,649,801	R551S	probably damaging	Het
Hspa1l	A	G	17: 34,978,223	T413A	possibly damaging	Het
Hspg2	T	C	4: 137,542,530	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,920,473	I53L	probably benign	Het
Kcnj11	C	T	7: 46,099,120	V260I	probably benign	Het
Krt84	A	G	15: 101,530,254	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,393,955	Y266C	probably damaging	Het
Lrrc41	T	C	4: 116,089,324	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,017,225	E1023D	probably damaging	Het
Mark3	T	A	12: 111,618,324	L118*	probably null	Het
Mrgpra9	T	A	7: 47,235,011	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,304,925	E68G	probably benign	Het
Nckap5	A	C	1: 126,528,641		probably benign	Het
Nox3	T	A	17: 3,669,894	T339S	probably damaging	Het
Nrip2	A	C	6: 128,408,374	H256P	probably benign	Het
Oas1d	T	C	5: 120,915,768	V97A	probably benign	Het
Obox2	T	A	7: 15,397,177		probably null	Het
Olfr979	T	C	9: 40,001,023		probably null	Het
Opa1	T	C	16: 29,648,973	F989S	possibly damaging	Het
Padi1	T	A	4: 140,824,847	I429F	probably damaging	Het
Paics	A	G	5: 76,961,204	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,099,626	E1288*	probably null	Het
Prdm16	A	T	4: 154,341,552	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,044,056	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,321,984	T26A	probably benign	Het
Ptpn21	T	C	12: 98,715,195		probably null	Het
Rab44	C	T	17: 29,139,555	A239V	probably benign	Het
Rtcb	T	C	10: 85,955,736	N52S	probably benign	Het
Sapcd2	T	A	2: 25,373,566		probably null	Het
Scaf11	T	C	15: 96,418,242	E1147G	possibly damaging	Het
Selenoo	T	C	15: 89,099,678	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,120,742	E3*	probably null	Het
Snw1	A	G	12: 87,452,658	V391A	probably benign	Het
Sorbs2	A	G	8: 45,796,217	K755R	probably benign	Het
Sorbs3	G	T	14: 70,186,945	P513T	probably damaging	Het
Sowaha	T	A	11: 53,479,510	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,947,301		probably benign	Het
St8sia5	T	A	18: 77,254,782	M396K	possibly damaging	Het
Tcp11l1	T	C	2: 104,681,785	I501V	probably benign	Het
Tert	A	G	13: 73,648,389	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,333,898	M1L	possibly damaging	Het
Thop1	T	A	10: 81,073,367		probably null	Het
Tmtc4	T	C	14: 122,973,206	H80R	probably damaging	Het
Toe1	C	T	4: 116,804,532	S480N	probably damaging	Het
Trap1	C	A	16: 4,045,488	V557F	probably benign	Het
Trim30d	T	C	7: 104,483,357	E91G	probably benign	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,914,165	G789V	probably damaging	Het
Wwc1	C	T	11: 35,889,400	A243T	probably benign	Het
Zfp248	A	C	6: 118,429,826	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,275,011	M945L	probably benign	Het
Zufsp	T	C	10: 33,949,438	D16G	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
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'- TTGTGTTCAGAAGACAGGCACC -3'
(R):5'- CTCACAGATGGAGGGATGTG -3'

Sequencing Primer
(F):5'- GGCTTCCACACAAGATGTTG -3'
(R):5'- ATGTGATGCCACGCGTG -3'

Posted On

2016-04-15