Mutagenetix > Incidental Mutation

Incidental Mutation 'R4647:Ulk4'

350386

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

041908-MU

Accession Numbers

Genbank: NM_177589; MGI: 1921622

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R4647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121141852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1018 (H1018R)

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 benign
Transcript: ENSMUST00000051479
AA Change: H1018R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: H1018R

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: 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: H1018R

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: H1018R

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 102,860,909	N132K	possibly damaging	Het
Aatf	T	C	11: 84,471,197	D313G	possibly damaging	Het
Abcb11	T	G	2: 69,285,271	D583A	probably damaging	Het
Adgrv1	A	T	13: 81,528,795	Y1252*	probably null	Het
Aim2	T	C	1: 173,455,524		silent	Het
Angpt1	T	A	15: 42,676,184	Y93F	probably benign	Het
Ankrd27	C	T	7: 35,638,234	P991L	probably benign	Het
Ap1s3	C	T	1: 79,614,203		probably null	Het
Apbb1	A	C	7: 105,565,538	S500A	probably benign	Het
Arc	G	A	15: 74,671,525	A283V	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
C1galt1c1	A	T	X: 38,631,472	S216T	probably benign	Het
C1qtnf4	T	A	2: 90,889,652	S90T	probably damaging	Het
Cachd1	A	T	4: 100,953,130	K310*	probably null	Het
Calhm1	A	G	19: 47,143,801	L125P	probably damaging	Het
Carmil1	G	A	13: 24,137,179	L278F	probably damaging	Het
Ccar1	A	T	10: 62,747,417	Y972*	probably null	Het
Cd163	C	T	6: 124,320,621	P909S	probably damaging	Het
Cd44	T	A	2: 102,837,929	H268L	possibly damaging	Het
Cdkl2	A	T	5: 92,017,213	L517Q	probably damaging	Het
Cep68	G	T	11: 20,239,349	N554K	probably benign	Het
Ces1d	A	G	8: 93,166,410	W515R	probably damaging	Het
Clca4b	A	C	3: 144,928,525	H102Q	probably benign	Het
Cldn15	T	A	5: 136,974,483	I142N	probably damaging	Het
Cmklr1	T	A	5: 113,614,640	D100V	probably damaging	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
D430041D05Rik	G	A	2: 104,258,443	P63S	probably damaging	Het
Ddx39	A	T	8: 83,722,273	H259L	probably benign	Het
Dhx16	C	G	17: 35,885,635	A565G	probably benign	Het
Dimt1	A	T	13: 106,947,655	D50V	probably benign	Het
Dock9	A	T	14: 121,586,246	L1428H	probably damaging	Het
Dpp4	G	T	2: 62,334,605	T700K	probably damaging	Het
E030030I06Rik	T	A	10: 22,148,845	R56S	unknown	Het
Eea1	A	G	10: 96,028,393	T925A	probably benign	Het
Ext1	A	G	15: 53,089,987	S494P	possibly damaging	Het
Fam171a1	G	A	2: 3,220,291	E140K	probably damaging	Het
Fam19a5	T	G	15: 87,720,582	S115A	probably damaging	Het
Fgfr3	C	T	5: 33,734,986		probably benign	Het
Gabra6	A	G	11: 42,307,372	I407T	probably damaging	Het
Gm13089	T	C	4: 143,699,344	M10V	probably benign	Het
Gm16223	C	A	5: 42,214,611	L115M	unknown	Het
Gm4781	G	T	10: 100,397,000		noncoding transcript	Het
Gm9772	T	A	17: 22,007,032	I70F	possibly damaging	Het
Gpr107	T	A	2: 31,210,501	F497Y	probably damaging	Het
Grm7	T	A	6: 110,914,383	Y192*	probably null	Het
Gtf2ird2	G	A	5: 134,216,192	A431T	probably damaging	Het
H2-K2	T	A	17: 33,976,015		noncoding transcript	Het
H2-M11	T	A	17: 36,547,991	V141D	probably benign	Het
Hmcn1	A	G	1: 150,675,511		probably null	Het
Hmcn2	A	T	2: 31,399,019	Q2280L	possibly damaging	Het
Hmg20b	T	A	10: 81,348,582	Q129L	probably damaging	Het
Igfbp7	T	A	5: 77,351,296	Q285L	possibly damaging	Het
Igkv13-85	T	A	6: 68,930,736		probably benign	Het
Inpp5e	A	T	2: 26,407,914	L225H	probably benign	Het
Inpp5f	T	A	7: 128,659,109	V91E	possibly damaging	Het
Khdc3	A	G	9: 73,102,586	E26G	possibly damaging	Het
Klra5	T	A	6: 129,899,376	D156V	probably damaging	Het
Kmo	C	A	1: 175,659,774	Y430*	probably null	Het
Lbx2	A	G	6: 83,088,046	D188G	probably damaging	Het
Lcorl	A	T	5: 45,733,589	L474*	probably null	Het
Lnx1	C	T	5: 74,610,796	V350I	probably benign	Het
Lrrc45	T	A	11: 120,719,121	S464T	probably benign	Het
Ltc4s	T	A	11: 50,237,225	T61S	probably benign	Het
Luc7l3	A	C	11: 94,309,641	N50K	probably damaging	Het
Ly75	G	A	2: 60,308,278	T1415M	probably damaging	Het
Macf1	T	C	4: 123,473,627	E2447G	probably benign	Het
Map3k21	A	G	8: 125,942,111	D812G	probably benign	Het
Mbtd1	C	T	11: 93,924,611	H342Y	probably damaging	Het
Mest	C	T	6: 30,745,110	R226*	probably null	Het
Mindy1	A	T	3: 95,282,743		probably benign	Het
Mmp13	A	T	9: 7,274,233	D180V	probably damaging	Het
Mn1	A	G	5: 111,420,083	T640A	probably benign	Het
Msi2	T	C	11: 88,718,038	H18R	possibly damaging	Het
Myo18a	T	A	11: 77,817,950	V61E	probably damaging	Het
Myo19	T	G	11: 84,894,642	I237S	probably damaging	Het
Ncaph2	T	A	15: 89,370,432	L416Q	probably damaging	Het
Nlrp1a	T	A	11: 71,097,126		probably null	Het
Olfr1450	A	G	19: 12,954,077	I163V	probably benign	Het
Olfr282	G	T	15: 98,437,576	V36F	probably benign	Het
Olfr353	A	G	2: 36,890,651	F66L	probably benign	Het
Olfr559	A	G	7: 102,724,092	S133P	probably damaging	Het
Olfr710	A	T	7: 106,944,340	N220K	probably benign	Het
Padi2	T	C	4: 140,944,446	F495S	probably damaging	Het
Pan3	G	T	5: 147,527,203	D535Y	probably damaging	Het
Paqr3	T	A	5: 97,108,210	R102*	probably null	Het
Patl1	T	A	19: 11,914,434	D34E	probably damaging	Het
Pcdha6	A	T	18: 36,969,136	T461S	probably damaging	Het
Pcnt	T	C	10: 76,354,213	S2830G	probably benign	Het
Pdgfa	G	A	5: 138,979,184	T181I	probably benign	Het
Pds5a	C	A	5: 65,656,318	D275Y	probably damaging	Het
Plod2	T	A	9: 92,605,450	Y607*	probably null	Het
Pomt2	G	T	12: 87,118,083	T517K	possibly damaging	Het
Prdm1	T	C	10: 44,439,690	T817A	probably damaging	Het
Prdm2	T	C	4: 143,132,955	D1255G	possibly damaging	Het
Prex2	T	A	1: 11,162,285	C859S	probably damaging	Het
Ralgapa2	A	T	2: 146,387,629	M1077K	possibly damaging	Het
Ralgds	T	C	2: 28,545,520		probably null	Het
Rasa3	T	C	8: 13,588,865	E314G	probably null	Het
Rasa4	T	A	5: 136,101,363	D324E	probably damaging	Het
Rbm46	A	T	3: 82,864,458	D283E	probably benign	Het
Rnf139	A	T	15: 58,899,987	L620F	probably benign	Het
Rptor	T	A	11: 119,891,163	N1105K	probably benign	Het
Scaf11	A	T	15: 96,420,100		probably null	Het
Sectm1b	A	T	11: 121,055,934	V45E	probably damaging	Het
Selenon	A	G	4: 134,545,657	W157R	probably damaging	Het
Sema3b	C	A	9: 107,599,051	R657L	possibly damaging	Het
Setd1b	C	T	5: 123,148,112	A407V	unknown	Het
Sh3tc1	C	T	5: 35,706,318	A842T	probably damaging	Het
Shank2	A	G	7: 144,411,829	E1268G	probably damaging	Het
Shmt1	G	A	11: 60,801,465	S155F	probably damaging	Het
Sim2	A	G	16: 94,123,526	E510G	possibly damaging	Het
Slc25a46	A	T	18: 31,600,192	I168N	probably damaging	Het
Slc26a4	T	G	12: 31,540,526	D376A	possibly damaging	Het
Slfn14	G	T	11: 83,276,658	A677E	probably benign	Het
Slk	G	T	19: 47,620,274	Q555H	possibly damaging	Het
Synj1	A	T	16: 90,973,989	D517E	probably damaging	Het
Syvn1	G	A	19: 6,051,474	R440Q	probably benign	Het
Tas2r118	A	T	6: 23,969,468	I198N	probably damaging	Het
Tdh	A	G	14: 63,493,756	L323P	possibly damaging	Het
Tet2	A	T	3: 133,488,082	M197K	probably benign	Het
Timeless	A	G	10: 128,239,956	Y19C	possibly damaging	Het
Tnn	T	C	1: 160,146,042	M252V	probably benign	Het
Trdn	G	T	10: 33,195,981	E215*	probably null	Het
Trmt1l	G	T	1: 151,457,881	V712F	possibly damaging	Het
Tti1	T	C	2: 158,007,020		probably benign	Het
Vim	A	T	2: 13,582,495	H461L	probably benign	Het
Vmn2r118	T	A	17: 55,610,665	E282D	probably damaging	Het
Vmn2r31	T	A	7: 7,384,368	I735F	probably damaging	Het
Vmn2r88	A	G	14: 51,418,793	M829V	probably benign	Het
Washc4	T	A	10: 83,574,543	M665K	possibly damaging	Het
Wbp2	T	A	11: 116,082,381	M67L	probably benign	Het
Wdr81	T	A	11: 75,445,988	E1525V	probably damaging	Het
Xbp1	A	G	11: 5,522,006	D44G	probably damaging	Het
Zfhx4	T	G	3: 5,399,281	F1500V	probably damaging	Het
Zfp286	A	C	11: 62,783,733	Y95*	probably null	Het
Zfp872	A	G	9: 22,199,761	T178A	possibly damaging	Het
Zkscan5	A	G	5: 145,218,830	H364R	possibly damaging	Het
Zp3r	A	T	1: 130,577,960	Y422N	probably damaging	Het
Zscan10	C	T	17: 23,610,340	R542C	probably benign	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
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'- GAATCTAACTCAGGCCTCCG -3'
(R):5'- ATCTGTGCGAGTGCTATGC -3'

Sequencing Primer
(F):5'- AACTCCACACTTCCTCAGTTTGAAG -3'
(R):5'- TGCGAGTGCTATGCTCATAG -3'

Posted On

2015-10-08