Mutagenetix > Incidental Mutation

Incidental Mutation 'R6668:Ulk4'

527072

Institutional Source

Beutler Lab

Gene Symbol

Ulk4

Ensembl Gene

ENSMUSG00000040936

Gene Name

unc-51-like kinase 4

Synonyms

4932415A06Rik

MMRRC Submission

044788-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R6668 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120793520-121115225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121017408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 690 (V690E)

Ref Sequence

ENSEMBL: ENSMUSP00000131342 (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: V690E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057960
Gene: ENSMUSG00000040936
AA Change: V690E

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

noncoding transcript
Transcript: ENSMUST00000164969

Predicted Effect

probably benign
Transcript: ENSMUST00000170237

Predicted Effect

probably damaging
Transcript: ENSMUST00000171061
AA Change: V690E

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

SMART Domains

Protein: ENSMUSP00000129214
Gene: ENSMUSG00000040936
AA Change: V690E

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: V690E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131342
Gene: ENSMUSG00000040936
AA Change: V690E

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,486,868 (GRCm39)		probably benign	Het
Adam26b	A	T	8: 43,973,727 (GRCm39)	V425D	possibly damaging	Het
Ahctf1	A	G	1: 179,579,972 (GRCm39)	S2077P	probably benign	Het
Amacr	A	G	15: 10,983,468 (GRCm39)	T93A	probably benign	Het
Arsb	T	A	13: 93,930,728 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,692,677 (GRCm39)	R354Q	probably damaging	Het
Chia1	C	T	3: 106,038,264 (GRCm39)	L387F	probably damaging	Het
Cyp24a1	A	T	2: 170,327,805 (GRCm39)		probably null	Het
Dennd4a	G	A	9: 64,794,247 (GRCm39)	G689S	probably damaging	Het
Elovl4	G	A	9: 83,688,039 (GRCm39)	A18V	probably benign	Het
Fam135a	A	T	1: 24,067,929 (GRCm39)	V80E	probably damaging	Het
Fmo2	T	A	1: 162,704,617 (GRCm39)	T430S	probably benign	Het
Fpgs	T	C	2: 32,577,618 (GRCm39)	I213V	probably benign	Het
Gm10134	A	T	2: 28,396,263 (GRCm39)	R53*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ift172	T	C	5: 31,412,683 (GRCm39)	N1524S	probably benign	Het
Kif1b	G	A	4: 149,297,864 (GRCm39)	S1104F	probably benign	Het
Map3k21	T	C	8: 126,652,852 (GRCm39)	V326A	possibly damaging	Het
Mlst8	A	G	17: 24,696,453 (GRCm39)		probably null	Het
Muc16	A	T	9: 18,551,681 (GRCm39)	S4871T	probably benign	Het
Myo1d	A	G	11: 80,474,701 (GRCm39)		probably benign	Het
Ndufa3	A	G	7: 3,622,465 (GRCm39)	Y41C	probably damaging	Het
Nfkbid	T	A	7: 30,123,866 (GRCm39)	L142Q	probably benign	Het
Or8b38	T	A	9: 37,973,066 (GRCm39)	M150K	possibly damaging	Het
Peg10	T	A	6: 4,754,502 (GRCm39)	D94E	probably benign	Het
Phactr3	A	T	2: 177,974,657 (GRCm39)	I492F	probably damaging	Het
Plxna2	T	C	1: 194,492,396 (GRCm39)	V1751A	possibly damaging	Het
Prss16	T	C	13: 22,190,918 (GRCm39)	E238G	probably null	Het
Rad51ap2	T	C	12: 11,507,647 (GRCm39)	V523A	probably benign	Het
Rbm33	T	A	5: 28,547,498 (GRCm39)	S223T	probably benign	Het
Ryk	T	A	9: 102,746,475 (GRCm39)	F137I	possibly damaging	Het
Sars2	G	A	7: 28,446,429 (GRCm39)	E194K	probably benign	Het
Spata2l	T	C	8: 123,960,167 (GRCm39)	D374G	probably damaging	Het
Tenm2	A	G	11: 35,937,592 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,192,652 (GRCm39)	K1097E	probably damaging	Het
Usp34	A	G	11: 23,410,659 (GRCm39)	N2703S	probably damaging	Het
Zfp273	C	G	13: 67,973,243 (GRCm39)	L124V	probably damaging	Het
Zfp608	A	G	18: 55,031,091 (GRCm39)	S950P	probably damaging	Het
Zfp994	A	T	17: 22,420,081 (GRCm39)	H289Q	probably damaging	Het

Other mutations in Ulk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Ulk4	APN	9	120,997,358 (GRCm39)	missense	possibly damaging	0.48
IGL01345:Ulk4	APN	9	121,037,228 (GRCm39)	missense	possibly damaging	0.48
IGL01432:Ulk4	APN	9	121,095,367 (GRCm39)	missense	probably damaging	1.00
IGL01807:Ulk4	APN	9	121,084,251 (GRCm39)	missense	probably damaging	1.00
IGL02139:Ulk4	APN	9	120,970,897 (GRCm39)	splice site	probably null
IGL02266:Ulk4	APN	9	120,910,766 (GRCm39)	missense	probably benign	0.10
IGL02511:Ulk4	APN	9	121,017,420 (GRCm39)	missense	probably damaging	1.00
IGL02546:Ulk4	APN	9	120,981,373 (GRCm39)	nonsense	probably null
IGL02687:Ulk4	APN	9	121,021,728 (GRCm39)	missense	possibly damaging	0.89
IGL03220:Ulk4	APN	9	120,974,402 (GRCm39)	missense	probably damaging	1.00
3-1:Ulk4	UTSW	9	121,084,237 (GRCm39)	missense	probably benign	0.02
R0031:Ulk4	UTSW	9	121,102,048 (GRCm39)	missense	probably damaging	1.00
R0433:Ulk4	UTSW	9	120,873,885 (GRCm39)	missense	probably benign	0.27
R0513:Ulk4	UTSW	9	120,981,391 (GRCm39)	missense	probably benign	0.13
R0524:Ulk4	UTSW	9	121,081,717 (GRCm39)	critical splice donor site	probably null
R1268:Ulk4	UTSW	9	121,086,140 (GRCm39)	splice site	probably benign
R1439:Ulk4	UTSW	9	121,095,324 (GRCm39)	missense	possibly damaging	0.58
R1470:Ulk4	UTSW	9	120,910,722 (GRCm39)	missense	probably benign	0.00
R1470:Ulk4	UTSW	9	120,910,722 (GRCm39)	missense	probably benign	0.00
R1531:Ulk4	UTSW	9	120,873,841 (GRCm39)	missense	probably damaging	0.97
R1595:Ulk4	UTSW	9	120,873,904 (GRCm39)	missense	probably damaging	0.96
R1620:Ulk4	UTSW	9	121,033,871 (GRCm39)	missense	possibly damaging	0.81
R1835:Ulk4	UTSW	9	120,997,250 (GRCm39)	missense	probably null	1.00
R1966:Ulk4	UTSW	9	121,086,182 (GRCm39)	missense	probably benign
R2129:Ulk4	UTSW	9	120,981,248 (GRCm39)	missense	probably benign	0.03
R2329:Ulk4	UTSW	9	121,101,953 (GRCm39)	missense	probably damaging	1.00
R2877:Ulk4	UTSW	9	121,089,105 (GRCm39)	missense	probably benign	0.11
R2878:Ulk4	UTSW	9	121,089,105 (GRCm39)	missense	probably benign	0.11
R3734:Ulk4	UTSW	9	121,091,055 (GRCm39)	missense	probably benign	0.21
R3769:Ulk4	UTSW	9	121,092,766 (GRCm39)	missense	probably benign	0.00
R4005:Ulk4	UTSW	9	120,997,265 (GRCm39)	missense	possibly damaging	0.94
R4024:Ulk4	UTSW	9	120,873,915 (GRCm39)	missense	possibly damaging	0.86
R4321:Ulk4	UTSW	9	120,903,062 (GRCm39)	missense	probably benign	0.00
R4461:Ulk4	UTSW	9	120,985,950 (GRCm39)	missense	possibly damaging	0.83
R4537:Ulk4	UTSW	9	121,092,704 (GRCm39)	nonsense	probably null
R4542:Ulk4	UTSW	9	121,092,704 (GRCm39)	nonsense	probably null
R4572:Ulk4	UTSW	9	121,021,830 (GRCm39)	missense	probably damaging	1.00
R4647:Ulk4	UTSW	9	120,970,918 (GRCm39)	missense	probably benign	0.15
R4712:Ulk4	UTSW	9	121,073,436 (GRCm39)	missense	probably benign	0.23
R4730:Ulk4	UTSW	9	121,092,791 (GRCm39)	missense	probably benign	0.05
R4731:Ulk4	UTSW	9	121,092,704 (GRCm39)	nonsense	probably null
R4732:Ulk4	UTSW	9	121,092,704 (GRCm39)	nonsense	probably null
R4733:Ulk4	UTSW	9	121,092,704 (GRCm39)	nonsense	probably null
R4737:Ulk4	UTSW	9	120,902,938 (GRCm39)	nonsense	probably null
R4781:Ulk4	UTSW	9	120,932,642 (GRCm39)	missense	probably benign	0.00
R4860:Ulk4	UTSW	9	121,079,968 (GRCm39)	missense	possibly damaging	0.68
R4926:Ulk4	UTSW	9	121,087,798 (GRCm39)	missense	probably benign	0.00
R4990:Ulk4	UTSW	9	121,021,852 (GRCm39)	missense	probably benign	0.01
R6056:Ulk4	UTSW	9	121,102,021 (GRCm39)	missense	probably damaging	1.00
R6448:Ulk4	UTSW	9	120,932,696 (GRCm39)	missense	probably damaging	0.99
R6546:Ulk4	UTSW	9	120,970,960 (GRCm39)	missense	probably damaging	1.00
R6915:Ulk4	UTSW	9	121,087,886 (GRCm39)	missense	probably benign
R6929:Ulk4	UTSW	9	120,903,081 (GRCm39)	missense	probably benign	0.02
R7069:Ulk4	UTSW	9	121,095,583 (GRCm39)	missense	probably benign	0.25
R7069:Ulk4	UTSW	9	121,087,876 (GRCm39)	missense	probably benign	0.01
R7293:Ulk4	UTSW	9	121,084,190 (GRCm39)	missense	probably damaging	1.00
R7299:Ulk4	UTSW	9	120,974,125 (GRCm39)	missense	probably benign	0.32
R7301:Ulk4	UTSW	9	120,974,125 (GRCm39)	missense	probably benign	0.32
R7337:Ulk4	UTSW	9	121,077,993 (GRCm39)	missense	probably benign	0.44
R7395:Ulk4	UTSW	9	121,084,178 (GRCm39)	missense	probably benign
R7423:Ulk4	UTSW	9	120,932,687 (GRCm39)	missense	possibly damaging	0.48
R7545:Ulk4	UTSW	9	120,970,904 (GRCm39)	missense	probably benign	0.00
R7753:Ulk4	UTSW	9	121,095,578 (GRCm39)	critical splice donor site	probably null
R7790:Ulk4	UTSW	9	121,092,734 (GRCm39)	missense	possibly damaging	0.70
R7791:Ulk4	UTSW	9	121,092,734 (GRCm39)	missense	possibly damaging	0.70
R7793:Ulk4	UTSW	9	121,092,734 (GRCm39)	missense	possibly damaging	0.70
R7834:Ulk4	UTSW	9	121,092,734 (GRCm39)	missense	possibly damaging	0.70
R7836:Ulk4	UTSW	9	120,873,885 (GRCm39)	missense	possibly damaging	0.72
R7960:Ulk4	UTSW	9	121,102,022 (GRCm39)	missense	probably damaging	1.00
R8087:Ulk4	UTSW	9	121,095,317 (GRCm39)	missense	probably damaging	0.99
R8203:Ulk4	UTSW	9	120,997,274 (GRCm39)	missense	probably damaging	0.96
R8246:Ulk4	UTSW	9	120,985,941 (GRCm39)	makesense	probably null
R8430:Ulk4	UTSW	9	121,086,144 (GRCm39)	critical splice donor site	probably null
R8841:Ulk4	UTSW	9	121,033,804 (GRCm39)	missense	probably damaging	1.00
R9014:Ulk4	UTSW	9	121,017,294 (GRCm39)	missense	probably benign	0.00
R9092:Ulk4	UTSW	9	120,903,003 (GRCm39)	missense
R9126:Ulk4	UTSW	9	121,090,988 (GRCm39)	missense	probably damaging	0.99
R9176:Ulk4	UTSW	9	120,974,128 (GRCm39)	missense	probably benign
R9235:Ulk4	UTSW	9	120,981,217 (GRCm39)	missense	probably benign	0.13
R9713:Ulk4	UTSW	9	120,873,862 (GRCm39)	nonsense	probably null
X0024:Ulk4	UTSW	9	121,021,819 (GRCm39)	missense	probably damaging	1.00
X0066:Ulk4	UTSW	9	121,091,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGGCATCCTATGTAGCATGC -3'
(R):5'- TTGAGCAGAGACCTGAGGTG -3'

Sequencing Primer
(F):5'- TATGTAGCATGCACCACTCCAGG -3'
(R):5'- CAGAGACCTGAGGTGTGTGTG -3'

Posted On

2018-07-23