Mutagenetix > Incidental Mutation

Incidental Mutation 'R2129:Ulk4'

227851

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

040132-MU

Accession Numbers

Genbank: NM_177589; MGI: 1921622

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R2129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121152182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 897 (I897F)

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: I897F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: I897F

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: I897F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: I897F

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375	K72*	probably null	Het
Abhd14a	A	T	9: 106,440,865	L125Q	probably null	Het
Abhd17b	T	A	19: 21,681,049		probably null	Het
Abo	G	A	2: 26,846,574	T61I	probably benign	Het
Adamts15	T	C	9: 30,904,503	T686A	probably benign	Het
Adgrv1	A	T	13: 81,557,080	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,476,128	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061	I17F	probably benign	Het
Aspm	T	C	1: 139,457,635	V339A	probably benign	Het
BC055324	T	C	1: 163,966,457	Y518C	probably damaging	Het
Bri3bp	T	A	5: 125,451,671	L48*	probably null	Het
Car7	T	A	8: 104,548,973	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142	Y399H	probably benign	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Chst10	A	G	1: 38,865,695	Y203H	probably benign	Het
Clca1	T	C	3: 145,016,765	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342	S190A	probably benign	Het
Crocc	G	A	4: 141,017,096	R1830C	probably damaging	Het
Cygb	A	G	11: 116,649,842	L106P	probably damaging	Het
Dab2	G	T	15: 6,336,383	E87*	probably null	Het
Dcst1	T	A	3: 89,357,545	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,905,974		probably null	Het
Depdc7	A	G	2: 104,728,173	S168P	probably benign	Het
Dicer1	G	A	12: 104,722,031	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,321	Q3484R	probably benign	Het
Dock2	T	C	11: 34,727,415	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289	S107P	possibly damaging	Het
Emb	T	C	13: 117,267,546	V278A	probably damaging	Het
Foxk1	C	A	5: 142,435,188	S189*	probably null	Het
Galm	T	C	17: 80,183,218	I268T	probably benign	Het
Gm5581	A	C	6: 131,168,284		noncoding transcript	Het
Gpr6	G	A	10: 41,071,172	S138L	possibly damaging	Het
Hesx1	C	A	14: 27,000,845	H42Q	possibly damaging	Het
Hsp90b1	T	C	10: 86,695,706	D421G	probably damaging	Het
Kctd19	T	C	8: 105,385,172	T31A	probably damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,877,975		probably benign	Het
Lin28a	T	A	4: 134,018,154	I43F	probably benign	Het
Lrriq1	G	A	10: 103,214,857	T678I	probably benign	Het
Macf1	A	G	4: 123,368,815		probably benign	Het
Madcam1	A	G	10: 79,665,572	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,824,822	D648G	probably damaging	Het
Megf8	T	C	7: 25,330,715	L425P	probably damaging	Het
Mospd4	A	G	18: 46,465,664		noncoding transcript	Het
Mybpc1	T	G	10: 88,551,452	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,799	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,831,078	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,333,699	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,327,588	A250E	possibly damaging	Het
Nipsnap1	C	A	11: 4,888,932	N119K	probably benign	Het
Npffr2	A	T	5: 89,568,065	I84F	probably damaging	Het
Olfr330	T	C	11: 58,529,611	D125G	probably damaging	Het
Olfr479	T	A	7: 108,055,904	N307K	probably benign	Het
Olfr748	A	G	14: 50,710,636	Y102C	probably damaging	Het
Pald1	A	G	10: 61,348,306		probably null	Het
Palld	T	C	8: 61,877,361	S161G	probably benign	Het
Paqr9	T	A	9: 95,561,069	F371I	probably benign	Het
Pear1	A	T	3: 87,758,359	C120*	probably null	Het
Pla2g4e	A	T	2: 120,182,811	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,512,091	Y61F	probably benign	Het
Polh	G	A	17: 46,188,088	Q234*	probably null	Het
Prkce	T	A	17: 86,496,035	M454K	possibly damaging	Het
Proser1	C	A	3: 53,477,945	T416K	probably benign	Het
Prr14l	G	T	5: 32,831,828		probably benign	Het
Rabgap1l	A	T	1: 160,738,957	D90E	probably benign	Het
Rp1l1	T	A	14: 64,028,966	V667D	possibly damaging	Het
Rpp40	A	T	13: 35,898,621	C256*	probably null	Het
Rps6ka5	A	G	12: 100,678,538	L51P	probably damaging	Het
Rtp2	C	T	16: 23,927,707	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,678,370		probably benign	Het
Slc10a6	A	G	5: 103,609,056	Y281H	probably benign	Het
Slc6a21	T	G	7: 45,282,773		probably null	Het
Slc9a3r1	A	T	11: 115,176,444	I174F	probably damaging	Het
Smo	A	G	6: 29,757,314	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,854,860	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tasp1	T	C	2: 140,048,244	K71E	possibly damaging	Het
Tg	A	G	15: 66,694,894	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,946,161		probably null	Het
Tmem63a	A	G	1: 180,965,540	N459D	probably benign	Het
Ube2k	A	G	5: 65,594,926	T151A	probably damaging	Het
Ubr1	T	C	2: 120,942,553	E402G	probably benign	Het
Usp30	A	G	5: 114,111,163	E176G	probably damaging	Het
Utp20	A	G	10: 88,814,055	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612	S142G	probably benign	Het
Wdr17	C	T	8: 54,632,381	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,591,493	K126E	possibly damaging	Het
Zeb1	A	T	18: 5,767,681	S731C	possibly 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
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'- TGGGATGAACACCTGTCAGC -3'
(R):5'- GGATTCAGACAAAATGCTACCTAC -3'

Sequencing Primer
(F):5'- TCAGCCCGACACACGTG -3'
(R):5'- GAACATAGACGGAGCCATA -3'

Posted On

2014-09-17