Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Ulk1'

295982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ulk1

Ensembl Gene

ENSMUSG00000029512

Gene Name

unc-51 like kinase 1

Synonyms

Unc51.1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

110784488-110810097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110809134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 66 (I66N)

Ref Sequence

ENSEMBL: ENSMUSP00000143536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031490] [ENSMUST00000200299]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031490
AA Change: I66N

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

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: I66N

Domain	Start	End	E-Value	Type
S_TKc	16	278	3.6e-98	SMART
low complexity region	287	318	N/A	INTRINSIC
low complexity region	340	356	N/A	INTRINSIC
low complexity region	400	423	N/A	INTRINSIC
Blast:S_TKc	459	837	1e-131	BLAST
Pfam:DUF3543	838	1048	1.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200299
AA Change: I66N

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

SMART Domains

Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: I66N

Domain	Start	End	E-Value	Type
S_TKc	16	278	7.47e-96	SMART
low complexity region	287	318	N/A	INTRINSIC
low complexity region	340	356	N/A	INTRINSIC
low complexity region	400	423	N/A	INTRINSIC
Blast:S_TKc	459	843	1e-129	BLAST
Pfam:DUF3543	844	1054	1.4e-29	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Null homozygotes have blood defects including an increase in mean corpuscular volume and the presence of red blood cells that contain mitochondria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	Het

Other mutations in Ulk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ulk1	APN	5	110787872	missense	probably damaging	1.00
IGL00916:Ulk1	APN	5	110793011	missense	probably damaging	1.00
IGL00951:Ulk1	APN	5	110792404	missense	possibly damaging	0.85
IGL02404:Ulk1	APN	5	110796234	splice site	probably null
IGL02415:Ulk1	APN	5	110787621	missense	probably damaging	1.00
IGL02696:Ulk1	APN	5	110793052	missense	probably damaging	1.00
R0086:Ulk1	UTSW	5	110787707	splice site	probably benign
R0092:Ulk1	UTSW	5	110796327	missense	probably null	1.00
R0158:Ulk1	UTSW	5	110788944	splice site	probably benign
R0387:Ulk1	UTSW	5	110788797	missense	possibly damaging	0.91
R0453:Ulk1	UTSW	5	110791085	missense	probably damaging	1.00
R0837:Ulk1	UTSW	5	110789545	splice site	probably benign
R1244:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R1245:Ulk1	UTSW	5	110789340	critical splice donor site	probably null
R1268:Ulk1	UTSW	5	110790277	missense	probably damaging	1.00
R1342:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R1586:Ulk1	UTSW	5	110789516	missense	probably damaging	1.00
R1590:Ulk1	UTSW	5	110795766	missense	probably damaging	1.00
R1816:Ulk1	UTSW	5	110787831	missense	probably damaging	1.00
R1837:Ulk1	UTSW	5	110789381	missense	probably damaging	1.00
R1924:Ulk1	UTSW	5	110791070	missense	probably damaging	0.97
R1992:Ulk1	UTSW	5	110787151	missense	probably damaging	1.00
R2126:Ulk1	UTSW	5	110792436	missense	probably benign	0.27
R2276:Ulk1	UTSW	5	110788162	missense	probably benign	0.00
R2310:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2311:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2312:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2760:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2762:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2763:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2764:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R2859:Ulk1	UTSW	5	110794629	missense	probably damaging	1.00
R2932:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R3760:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R3761:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R3762:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R3763:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R4334:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R4419:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R4471:Ulk1	UTSW	5	110789357	missense	probably benign	0.03
R4615:Ulk1	UTSW	5	110789046	missense	probably damaging	1.00
R4776:Ulk1	UTSW	5	110788947	critical splice donor site	probably null
R4820:Ulk1	UTSW	5	110792130	missense	probably benign
R4912:Ulk1	UTSW	5	110787589	missense	probably damaging	1.00
R6299:Ulk1	UTSW	5	110791097	missense	possibly damaging	0.78
R6754:Ulk1	UTSW	5	110790393	missense	possibly damaging	0.91
R7233:Ulk1	UTSW	5	110809042	missense	probably damaging	1.00
R7724:Ulk1	UTSW	5	110792404	missense	probably benign	0.44
R7751:Ulk1	UTSW	5	110809212	missense	probably damaging	1.00
R7823:Ulk1	UTSW	5	110798914	missense	probably damaging	1.00
R8379:Ulk1	UTSW	5	110787665	missense	probably damaging	1.00
R8489:Ulk1	UTSW	5	110799136	nonsense	probably null
R8880:Ulk1	UTSW	5	110786422	missense	probably damaging	1.00
R9214:Ulk1	UTSW	5	110788797	missense	possibly damaging	0.82
X0025:Ulk1	UTSW	5	110792129	missense	probably benign	0.00

Posted On

2015-04-16