Mutagenetix > Incidental Mutation

Incidental Mutation 'R7790:Ulk4'

599822

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

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R7790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121263668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 168 (E168K)

Ref Sequence

ENSEMBL: ENSMUSP00000057960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051479] [ENSMUST00000051565] [ENSMUST00000171061] [ENSMUST00000171923]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051479
AA Change: E168K

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: E168K

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

possibly damaging
Transcript: ENSMUST00000171061
AA Change: E168K

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: E168K

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

possibly damaging
Transcript: ENSMUST00000171923
AA Change: E168K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: E168K

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

0.1629

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201	I136F	possibly damaging	Het
3110043O21Rik	T	C	4: 35,192,997	D444G	unknown	Het
4932415D10Rik	C	T	10: 82,287,495	C3227Y	probably benign	Het
Abca13	A	T	11: 9,297,915	K2554M	probably damaging	Het
Ankrd12	C	T	17: 65,984,230	D1403N	possibly damaging	Het
Ankrd17	A	G	5: 90,260,152	V1402A	possibly damaging	Het
Ankrd36	A	T	11: 5,635,176	N329I	possibly damaging	Het
Atr	A	T	9: 95,874,180	D815V	probably damaging	Het
Ceacam1	T	C	7: 25,473,950	Y271C	probably damaging	Het
Cenpo	T	C	12: 4,214,597	H265R	probably benign	Het
Chd8	G	A	14: 52,226,082	R702W	probably damaging	Het
Ckap5	A	G	2: 91,559,110	N309S	probably benign	Het
Cxxc1	C	T	18: 74,217,784	R83C	probably damaging	Het
Dcaf6	T	C	1: 165,399,715	D281G	probably damaging	Het
Dennd4c	A	G	4: 86,799,517	T584A	probably damaging	Het
Dync2h1	G	T	9: 7,114,914	H2415N	probably damaging	Het
Dzip1l	A	G	9: 99,660,962	E490G	possibly damaging	Het
Fam124a	T	C	14: 62,606,077	S345P	probably benign	Het
Fam83b	G	A	9: 76,492,048	T591I	probably benign	Het
Frem1	T	C	4: 82,989,164	S838G	probably benign	Het
Fsip2	G	T	2: 82,988,379	D4819Y	probably benign	Het
Gm43302	T	G	5: 105,277,825	K246T	probably benign	Het
Gm5861	C	A	5: 11,184,218	H30Q	probably benign	Het
Gml	T	C	15: 74,813,613		probably benign	Het
Gpc1	A	T	1: 92,853,449	H90L	probably benign	Het
Grik3	T	C	4: 125,686,019	L519P	probably damaging	Het
Grwd1	A	G	7: 45,826,014	V368A	probably damaging	Het
Gstm3	G	A	3: 107,969,239		probably benign	Het
Gtpbp6	A	G	5: 110,104,386	S427P	probably damaging	Het
Heatr5b	C	T	17: 78,818,823	G560E	probably damaging	Het
Heatr9	A	G	11: 83,518,193	V176A	probably damaging	Het
Hsf2bp	A	G	17: 32,034,479	V5A	probably benign	Het
Ints3	G	T	3: 90,400,413	Q660K	probably benign	Het
Itpr2	A	T	6: 146,224,776	L2048Q	probably damaging	Het
Kcnq1	G	A	7: 143,106,605		probably null	Het
Lsm12	A	T	11: 102,165,169		probably null	Het
Mcoln3	A	G	3: 146,139,492	Y481C	probably damaging	Het
Meis3	A	G	7: 16,182,397	N266D	probably benign	Het
Mgat5	G	A	1: 127,412,204	E441K	probably benign	Het
Mroh6	C	T	15: 75,884,240	R689H	probably benign	Het
Mtg1	T	C	7: 140,149,749	Y251H	probably damaging	Het
Mtus2	A	T	5: 148,078,188	Q597L	probably benign	Het
Myt1	A	G	2: 181,797,597	E346G	probably benign	Het
Nat8f4	A	G	6: 85,900,891	S217P	probably benign	Het
Ngf	G	A	3: 102,509,824	G17R	unknown	Het
Olfr863-ps1	A	T	9: 19,941,684	M252K	unknown	Het
Pam	T	C	1: 97,821,847	Y968C	probably damaging	Het
Pcdhga7	T	A	18: 37,714,943	M1K	probably null	Het
Pde8b	G	T	13: 95,034,171	D554E	probably benign	Het
Pdzd7	G	A	19: 45,045,523	R41*	probably null	Het
Pkhd1l1	C	T	15: 44,578,581	P3639S	probably damaging	Het
Plce1	A	T	19: 38,780,696	E2280V	probably damaging	Het
Prrxl1	T	A	14: 32,628,888	L227Q	probably damaging	Het
Ryr1	T	C	7: 29,104,832	I538V	probably benign	Het
Scaf11	A	G	15: 96,419,061	L874P	possibly damaging	Het
Scpep1	G	T	11: 88,933,521	D307E	possibly damaging	Het
Sept4	A	G	11: 87,589,239	E327G	probably damaging	Het
Skint2	T	G	4: 112,616,554	V11G	possibly damaging	Het
Slc26a4	T	C	12: 31,544,483	N289D	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slx4	T	C	16: 3,986,982	E656G	probably benign	Het
Socs5	T	C	17: 87,134,363	S244P	probably benign	Het
Stt3b	A	C	9: 115,276,819	L196R	probably damaging	Het
Syne2	T	A	12: 75,929,103		probably null	Het
Tab2	T	A	10: 7,920,424	N24I	probably damaging	Het
Taf4b	T	C	18: 14,813,274	S385P	probably damaging	Het
Tg	T	C	15: 66,849,604	Y2720H	probably damaging	Het
Tjap1	C	T	17: 46,258,690	G448E	probably benign	Het
Tll1	A	T	8: 64,025,237	C827*	probably null	Het
Tlr11	T	A	14: 50,361,925	I456K	probably benign	Het
Tmem209	T	C	6: 30,497,855	D305G	probably damaging	Het
Tmem82	A	T	4: 141,617,724		probably null	Het
Tnfrsf14	A	G	4: 154,923,293	V207A	probably benign	Het
Tnks	A	T	8: 34,861,540	N625K	probably benign	Het
Tomm20	G	A	8: 126,939,950	P58S	possibly damaging	Het
Ttc9b	A	G	7: 27,654,336	D137G	probably benign	Het
Usp9y	T	A	Y: 1,444,573	D122V	probably damaging	Het
Vps41	C	A	13: 18,842,268	T512K	possibly damaging	Het
Wdr49	T	A	3: 75,275,028	N698I	probably benign	Het
Zfp568	G	A	7: 30,022,725	C365Y	probably damaging	Het
Zfp663	A	T	2: 165,352,533	C589S	probably damaging	Het
Zfp971	A	G	2: 178,033,499	K297R	probably damaging	Het
Zkscan16	G	T	4: 58,951,843	E173*	probably null	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	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
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'- TTCTGAGCCGTGACAGAACAAG -3'

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

Posted On

2019-11-26