Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Ulk4'

674429

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 #

R8841 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121204738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 612 (C612R)

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 damaging
Transcript: ENSMUST00000051479
AA Change: C612R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: C612R

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 damaging
Transcript: ENSMUST00000171061
AA Change: C612R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: C612R

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 damaging
Transcript: ENSMUST00000171923
AA Change: C612R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: C612R

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,143,925		probably benign	Het
Chaf1b	C	T	16: 93,905,020	T510I	probably benign	Het
Chrd	T	A	16: 20,735,737		probably benign	Het
Dennd2d	A	G	3: 106,486,264	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,691,713	R303S	probably benign	Het
Emsy	A	G	7: 98,615,561	I543T	possibly damaging	Het
Fam198b	A	G	3: 79,887,119	E298G	probably benign	Het
Fbxw2	G	A	2: 34,822,832		probably benign	Het
Fndc1	A	G	17: 7,773,349	V505A	unknown	Het
Foxf1	T	C	8: 121,085,180	V261A	probably damaging	Het
Fyb	T	C	15: 6,652,491	V773A	probably damaging	Het
Glp2r	G	T	11: 67,762,729	P77T	probably damaging	Het
Gpam	C	A	19: 55,078,518	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,307,674	N135K	probably damaging	Het
Hsph1	T	A	5: 149,627,324	R437W	probably damaging	Het
Kif1c	G	A	11: 70,724,833	V588I	probably benign	Het
Klhdc4	T	A	8: 121,796,641	E554V	possibly damaging	Het
Krt33a	A	G	11: 100,014,135	S182P	probably damaging	Het
Lad1	A	G	1: 135,827,232	D82G	probably benign	Het
Lin7a	A	G	10: 107,382,663	R145G	possibly damaging	Het
Lmna	A	G	3: 88,484,613		probably null	Het
Lrrc8b	T	C	5: 105,480,322	V178A	probably benign	Het
Lrwd1	T	C	5: 136,123,183	R647G	possibly damaging	Het
Mapt	A	G	11: 104,310,377	E153G	probably damaging	Het
Mefv	C	T	16: 3,710,978	C563Y	probably benign	Het
Myo7b	T	C	18: 31,964,437	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,156,258	T148M	probably damaging	Het
Nomo1	T	A	7: 46,058,487	S573T	probably benign	Het
Ntrk3	G	T	7: 78,356,093	R507S	probably damaging	Het
Olfr1396	A	C	11: 49,113,111	I205S	probably benign	Het
Olfr678	T	A	7: 105,070,272	N268K	possibly damaging	Het
Olfr727	T	A	14: 50,127,209	F211I	probably damaging	Het
Olfr764-ps1	A	G	10: 129,034,173	V223A	probably benign	Het
Olfr859	A	T	9: 19,808,589	R90S	probably benign	Het
Olfr935	A	G	9: 38,994,583	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,646	I126V	probably benign	Het
Phactr4	A	G	4: 132,365,573		probably null	Het
Pign	T	C	1: 105,557,909		probably benign	Het
Plekhn1	A	G	4: 156,232,198	L342P	probably damaging	Het
Pomk	G	A	8: 25,986,379	A49V	probably benign	Het
Prss50	A	G	9: 110,858,412	D141G	probably benign	Het
Ralgps1	A	C	2: 33,155,317	F406L	probably benign	Het
Rexo5	G	A	7: 119,848,788	S752N	probably benign	Het
Rin3	A	T	12: 102,369,278	I483L	probably benign	Het
Scn1a	T	A	2: 66,326,122	D481V	probably benign	Het
Scnn1a	T	C	6: 125,343,245	I554T	probably damaging	Het
Shc2	A	G	10: 79,622,316	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,273,281	S200F	probably damaging	Het
Slc25a38	A	G	9: 120,120,779	D208G	probably damaging	Het
Smok3c	C	A	5: 138,065,275	D341E	probably damaging	Het
Tfcp2	A	G	15: 100,513,108	I373T	probably damaging	Het
Tnpo3	T	A	6: 29,589,183	D56V	probably damaging	Het
Trrap	T	A	5: 144,844,211	Y3261N	probably damaging	Het
Ttll12	A	T	15: 83,581,792		probably benign	Het
Ush1g	G	T	11: 115,319,181	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,063,037	N331S		Het
Vmn2r4	T	C	3: 64,406,637	I308V	probably damaging	Het
Vwa8	T	A	14: 78,947,262	V400E	probably benign	Het
Washc2	A	G	6: 116,258,955	D1129G	probably benign	Het
Washc5	G	T	15: 59,335,122	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,704,112	L7F	probably benign	Het
Xpo4	T	C	14: 57,597,956	K636R	probably damaging	Het
Zan	T	A	5: 137,456,674	T1367S	unknown	Het
Zfp691	A	T	4: 119,170,664	S124T	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	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
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'- AGGCCACACTGTTCACATTTC -3'
(R):5'- CGAGACCTGGAAAGCTTCAG -3'

Sequencing Primer
(F):5'- TTCCCAACATCTTTTAAACCAGGCG -3'
(R):5'- ACCTGGAAAGCTTCAGATGTTGTC -3'

Posted On

2021-07-15