Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Ulk4'

685846

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 #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120955351-121277197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121188228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 728 (I728T)

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: I728T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: I728T

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 benign
Transcript: ENSMUST00000171061
AA Change: I728T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: I728T

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: I728T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: I728T

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,269,662	L649P	possibly damaging	Het
9530053A07Rik	A	G	7: 28,155,451	E1834G	probably damaging	Het
Aco2	A	G	15: 81,914,656	N746S	probably benign	Het
Ahnak2	T	C	12: 112,773,736	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,139,620	N1272K	possibly damaging	Het
Apc	G	T	18: 34,221,021		probably benign	Het
Arap1	A	G	7: 101,404,333	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,183,738	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,177,728	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,272,889	A671V	probably benign	Het
Bahcc1	T	C	11: 120,282,222	S1557P	probably benign	Het
Brca2	C	A	5: 150,541,754	T1661K	probably benign	Het
Casq1	T	A	1: 172,210,497	S356C	probably damaging	Het
Catsperg1	T	C	7: 29,206,641	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,913,064	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,322,259	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,986,158	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,736,970	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,687,396		probably null	Het
Dcaf8	T	C	1: 172,179,963	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,821,465	S997N	probably benign	Het
Dennd4c	A	C	4: 86,836,429	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,259,650	H632P	possibly damaging	Het
Dhx16	C	A	17: 35,882,598	R278S	probably benign	Het
Dsel	A	T	1: 111,860,779	Y675*	probably null	Het
Dsp	T	C	13: 38,192,724	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,620,757	N495I	possibly damaging	Het
Focad	T	A	4: 88,357,526	M1124K	unknown	Het
Foxi3	A	G	6: 70,960,831	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,905		probably benign	Het
Fsip2	C	A	2: 82,976,554	D1072E	probably benign	Het
Fsip2	T	G	2: 82,986,731	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,602,305	P363R	probably damaging	Het
Gm49383	A	C	12: 69,196,651	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,788,413	S104C	probably damaging	Het
Kat6a	A	G	8: 22,940,071	N1814S	unknown	Het
Kif18a	T	A	2: 109,293,069	H229Q	probably damaging	Het
Klk1b4	C	T	7: 44,209,674	R39C	probably benign	Het
Lgr6	T	C	1: 135,003,510	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,317,258	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,633	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,899,188	M1T	probably null	Het
Ms4a14	T	C	19: 11,301,507	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,289,959	D2179N	probably damaging	Het
Nfix	G	A	8: 84,721,776	T366M	possibly damaging	Het
Olfr1099	T	A	2: 86,958,691	I256F	probably benign	Het
Olfr504	A	G	7: 108,565,675	L40P	possibly damaging	Het
Olfr533	A	T	7: 140,465,970		probably benign	Het
Olfr913	T	C	9: 38,594,827	V202A	probably damaging	Het
Pear1	T	C	3: 87,751,172	Q964R	probably benign	Het
Pgk2	T	G	17: 40,207,796	E247A	probably benign	Het
Ppfia2	C	T	10: 106,927,805	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,350,623	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,118,683	H167Q	probably damaging	Het
Scel	A	T	14: 103,585,139	R396S	probably benign	Het
Siae	T	C	9: 37,646,343	V482A	possibly damaging	Het
Skint2	A	G	4: 112,625,829	M144V	probably benign	Het
Slc23a3	A	G	1: 75,132,630	F219L	probably benign	Het
Slc4a4	G	T	5: 89,132,386	A348S	probably damaging	Het
Spin1	G	T	13: 51,127,974		probably null	Het
Tab2	G	A	10: 7,919,156	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,050	T4M	probably benign	Het
Tet2	T	A	3: 133,467,188	D1771V	probably damaging	Het
Tmprss15	T	C	16: 79,075,803	T172A	probably benign	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Txnrd3	A	G	6: 89,654,109	Y129C	probably damaging	Het
Vmn1r44	G	A	6: 89,894,015	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,698,829	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,949,683	T423A	probably benign	Het
Zfp619	T	C	7: 39,537,822	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,592,155	Y664N	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
R8841:Ulk4	UTSW	9	121204738	missense	probably damaging	1.00
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'- ACTATTTCTCCTCGTTACCAGGAG -3'
(R):5'- GAAAGATCTGTGCTCCTGCTC -3'

Sequencing Primer
(F):5'- CTCGTTACCAGGAGACAGCAG -3'
(R):5'- TGCTCTCACAGGCCCTG -3'

Posted On

2021-10-11