Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Ulk4'

48020

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

038707-MU

Accession Numbers

Genbank: NM_177589; MGI: 1921622

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R0513 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121152325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 880 (H880L)

Ref Sequence

ENSEMBL: ENSMUSP00000057960 (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: H880L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: H880L

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
AA Change: H880L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: H880L

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

0.1536

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,469,659	T146A	probably benign	Het
4930452B06Rik	A	C	14: 8,536,609	D199E	probably damaging	Het
5830473C10Rik	A	T	5: 90,577,927	T333S	probably benign	Het
6720489N17Rik	A	C	13: 62,605,215	V99G	possibly damaging	Het
Abcg4	A	G	9: 44,281,687	S121P	possibly damaging	Het
Actr2	T	C	11: 20,080,124	T212A	probably damaging	Het
Adcy10	T	A	1: 165,519,519	D368E	probably benign	Het
Anapc15	T	C	7: 101,898,540		probably benign	Het
Aox4	A	G	1: 58,217,519	R67G	probably benign	Het
Aox4	A	G	1: 58,247,300	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,765	S755T	probably benign	Het
Atm	A	G	9: 53,503,948	V881A	probably benign	Het
Cd163l1	C	A	7: 140,224,960	C625*	probably null	Het
Cdkal1	C	T	13: 29,625,965		probably benign	Het
Cfap61	C	A	2: 146,035,295	N491K	possibly damaging	Het
Chgb	T	C	2: 132,785,977		probably benign	Het
Chrna1	C	A	2: 73,568,082		probably benign	Het
Chst10	A	G	1: 38,865,763	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,760,562		probably null	Het
Cryzl1	G	T	16: 91,699,287	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,576,547	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,898,091	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,200,308	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,654,928		probably benign	Het
Dag1	G	A	9: 108,208,485	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,656,495	L33P	probably benign	Het
Dlc1	C	T	8: 36,584,010	G856R	probably damaging	Het
Dst	T	A	1: 34,219,531		probably benign	Het
Dtl	A	T	1: 191,569,707	Y79*	probably null	Het
Egfr	T	G	11: 16,872,855	L406R	probably damaging	Het
Elp3	A	T	14: 65,563,246		probably null	Het
Fbxw19	C	A	9: 109,481,553		probably null	Het
Frs2	T	C	10: 117,074,665	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,361,880	V58L	probably damaging	Het
Gm17324	G	A	9: 78,448,725		probably benign	Het
Gm4787	A	T	12: 81,378,312	N357K	probably benign	Het
Gm9956	G	T	10: 56,745,195			Het
Gsg1l	C	T	7: 126,020,623		probably null	Het
Herc1	G	A	9: 66,445,645	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,706,324	L448P	probably benign	Het
Ing3	C	T	6: 21,970,035	S255L	probably damaging	Het
Ispd	A	T	12: 36,390,468	H125L	probably damaging	Het
Krt78	T	C	15: 101,950,949	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,729	L606H	probably damaging	Het
Lmod1	T	A	1: 135,325,168	N53K	probably damaging	Het
Lsr	G	C	7: 30,958,338	A467G	probably benign	Het
Mbtd1	T	A	11: 93,932,212		probably null	Het
Mill1	T	A	7: 18,264,877	Y337*	probably null	Het
Mlxipl	A	T	5: 135,137,263	Q833L	probably benign	Het
Mon2	C	T	10: 123,038,610	V278M	probably damaging	Het
Mxra8	A	C	4: 155,841,733	M180L	probably benign	Het
Myo18a	A	T	11: 77,811,594		probably benign	Het
Myo1c	T	G	11: 75,665,831		probably null	Het
Myo1g	T	C	11: 6,510,203	T782A	probably benign	Het
Ncapd3	A	G	9: 27,064,105		probably benign	Het
Neb	T	C	2: 52,308,687	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,195,185		probably benign	Het
Nf2	T	C	11: 4,791,185	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,603,846	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,084,159	D699N	probably damaging	Het
Nrbp2	C	T	15: 76,088,976	A45T	probably benign	Het
Obscn	A	G	11: 59,061,522	V3907A	possibly damaging	Het
Olfr11	A	T	13: 21,638,949	D191E	probably benign	Het
Olfr1371	T	C	11: 52,213,749	Q80R	possibly damaging	Het
Olfr145	A	T	9: 37,898,055	Y217F	probably damaging	Het
Pank2	C	T	2: 131,282,606	T290I	probably damaging	Het
Pbx4	T	C	8: 69,864,879	V171A	probably benign	Het
Pcgf1	G	T	6: 83,080,574	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,461,511	S778P	probably damaging	Het
Pld6	T	C	11: 59,785,221	I141M	probably damaging	Het
Polq	T	A	16: 37,094,502	V2508E	probably damaging	Het
Prkca	C	G	11: 108,014,376	D179H	possibly damaging	Het
Pspn	T	C	17: 56,999,720	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,503,746	T846I	probably benign	Het
Reg3g	A	C	6: 78,467,844	Y50*	probably null	Het
Rev3l	C	T	10: 39,828,143	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,912,991	Q611*	probably null	Het
Scgb1b20	G	A	7: 33,373,314		probably null	Het
Sfxn5	T	C	6: 85,269,973		probably benign	Het
Sh3tc1	T	A	5: 35,700,307	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,194,565	I37V	probably benign	Het
Slc35f5	T	C	1: 125,576,169		probably benign	Het
Slc8a2	A	C	7: 16,157,339	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,997,184		noncoding transcript	Het
Smurf2	T	A	11: 106,836,105	T453S	probably benign	Het
Spag16	A	G	1: 70,493,768		probably benign	Het
Spindoc	G	A	19: 7,374,144	T205I	probably benign	Het
Stab1	T	C	14: 31,148,945	I1316V	probably benign	Het
Stox2	T	C	8: 47,193,865	R187G	probably damaging	Het
Tcea2	A	C	2: 181,684,481	T93P	probably benign	Het
Tenm4	T	C	7: 96,895,623	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,960,461	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,053,529	H698L	probably benign	Het
Trim33	A	G	3: 103,310,384	D215G	probably damaging	Het
Ttc3	T	A	16: 94,426,212	I727N	probably damaging	Het
Ttn	T	A	2: 76,943,325	K2271N	probably damaging	Het
Ubr2	T	A	17: 46,986,779	K223*	probably null	Het
Ubr4	A	G	4: 139,416,875	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,003,412		probably benign	Het
Unc80	G	A	1: 66,622,474	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,957,667	L60Q	unknown	Het
Usf2	A	T	7: 30,954,736		probably benign	Het
Usp21	T	A	1: 171,283,012		probably benign	Het
Usp21	T	A	1: 171,283,014		probably benign	Het
Vmn2r118	T	A	17: 55,610,970	K181*	probably null	Het
Vmn2r124	T	A	17: 18,073,729	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 86,228,779	G470V	probably benign	Het
Vps13c	A	C	9: 67,930,735	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210	L119F	probably damaging	Het
Wdfy3	T	A	5: 101,890,789	S2012C	probably damaging	Het
Zfp142	A	G	1: 74,571,555	V924A	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp235	T	C	7: 24,142,219	S688P	probably damaging	Het
Zfp39	C	T	11: 58,889,987	V650I	probably benign	Het
Zfp82	A	T	7: 30,056,840	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,823,264	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,244,484	D2116N	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
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	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'- GCCGACAGGGTGACCTTGATAAAC -3'
(R):5'- ACTTAAGAATCAGAGGTGTGGgggg -3'

Sequencing Primer
(F):5'- GGGTGACCTTGATAAACTCCTCAG -3'
(R):5'- CAGAGGTGTGGATTCAGACA -3'

Posted On

2013-06-12