Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Ulk1'

430166

Institutional Source

Beutler Lab

Gene Symbol

Ulk1

Ensembl Gene

ENSMUSG00000029512

Gene Name

unc-51 like kinase 1

Synonyms

Unc51.1

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110784488-110810097 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 110788947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031490] [ENSMUST00000031490] [ENSMUST00000196094] [ENSMUST00000198561] [ENSMUST00000200299] [ENSMUST00000200299]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031490

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512

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 null
Transcript: ENSMUST00000031490

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512

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 benign
Transcript: ENSMUST00000196094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198470

Predicted Effect

probably benign
Transcript: ENSMUST00000198561

SMART Domains

Protein: ENSMUSP00000143308
Gene: ENSMUSG00000029512

Domain	Start	End	E-Value	Type
Blast:S_TKc	1	75	5e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200099

Predicted Effect

probably null
Transcript: ENSMUST00000200299

SMART Domains

Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512

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

Predicted Effect

probably null
Transcript: ENSMUST00000200299

SMART Domains

Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512

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

Meta Mutation Damage Score

0.9483

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,535	Y683*	probably null	Het
2610028H24Rik	A	T	10: 76,457,512	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,579,724	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,736,873	I373T	probably benign	Het
A830010M20Rik	C	A	5: 107,510,451	A1117E	probably damaging	Het
Amotl1	G	A	9: 14,593,373	Q217*	probably null	Het
Ankrd28	A	T	14: 31,732,054	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,901,546		probably benign	Het
Arfgef3	A	T	10: 18,654,247	S245T	probably benign	Het
Arntl	A	T	7: 113,285,037	K94I	probably damaging	Het
Atp1b2	A	T	11: 69,601,561	D224E	probably damaging	Het
Boc	G	A	16: 44,487,721	R924W	probably damaging	Het
Car14	C	T	3: 95,898,873	G292D	probably benign	Het
Cenpb	T	C	2: 131,178,183		probably benign	Het
Ces1b	A	T	8: 93,063,030	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,972,694	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 100,006,541		probably benign	Het
Cic	T	G	7: 25,282,883	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,442,892	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,692,446	D1779V	probably damaging	Het
Dock9	G	T	14: 121,610,097	H1016N	possibly damaging	Het
Dxo	T	C	17: 34,838,998	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,500,233	F78I	probably damaging	Het
Eri2	A	G	7: 119,784,946		probably benign	Het
Fam208b	A	G	13: 3,570,391	F2170S	probably damaging	Het
Fbxw7	T	G	3: 84,925,689	L13V	possibly damaging	Het
Fgf7	T	A	2: 126,035,783	C23*	probably null	Het
Fubp1	T	A	3: 152,222,068		probably null	Het
Gm2663	A	T	6: 40,995,953	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,548,096	Q140*	probably null	Het
Gnptab	G	A	10: 88,436,528	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,822,878	W544*	probably null	Het
Gucy2c	C	T	6: 136,722,514	E586K	probably damaging	Het
Hc	T	A	2: 35,039,734	E232V	probably benign	Het
Ifi207	T	A	1: 173,730,056	D372V	unknown	Het
Igkv8-28	A	T	6: 70,144,118	V15E	probably benign	Het
Il1rap	A	G	16: 26,692,799	S198G	possibly damaging	Het
Lct	A	G	1: 128,300,387	I1123T	probably damaging	Het
Lhcgr	T	C	17: 88,742,697	E467G	probably damaging	Het
Macf1	C	T	4: 123,476,015	R86K	probably benign	Het
Maml3	T	A	3: 51,856,532	Q337L	probably benign	Het
March10	T	A	11: 105,390,037	D474V	probably benign	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mast1	A	G	8: 84,937,193		probably null	Het
Med12l	T	C	3: 59,233,212	I868T	probably damaging	Het
Msrb1	T	C	17: 24,740,173	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,066,126	L342P	probably benign	Het
Nrxn3	T	A	12: 90,331,956	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,934,713	D248V	probably damaging	Het
Oaz3	T	C	3: 94,434,998	Q117R	probably benign	Het
Olfr1311	A	G	2: 112,020,931	Y308H	probably benign	Het
Olfr444	A	G	6: 42,955,521	I8V	probably benign	Het
Olfr589	A	G	7: 103,155,414	L111P	probably benign	Het
Osbpl3	A	C	6: 50,300,973	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,685,871		probably benign	Het
Pard6b	A	G	2: 168,098,788	T232A	probably damaging	Het
Paxip1	A	T	5: 27,765,206	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,523,818	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932		probably benign	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sel1l	T	A	12: 91,813,893	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,940,314	L105Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,335,722	K227E	probably benign	Het
Slc25a34	A	T	4: 141,623,588	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,397,049	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,098,824	D731V	probably null	Het
Sox6	T	G	7: 115,541,670	K483N	probably damaging	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,792,351	D882E	probably benign	Het
Syne4	T	C	7: 30,316,833		probably benign	Het
Tec	T	C	5: 72,768,776	Y289C	probably benign	Het
Tmem102	A	T	11: 69,804,802	Y115N	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trav17	T	A	14: 53,806,640	M1K	probably null	Het
Trdn	T	A	10: 33,399,082		probably null	Het
Trp53	A	T	11: 69,586,921	I8F	probably benign	Het
Ttn	T	A	2: 76,754,662	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,632,838		probably null	Het
Upp1	T	C	11: 9,135,976	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,388,661	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,597,508	G449D	probably damaging	Het
Vps37b	T	C	5: 124,006,612	K165E	probably damaging	Het
Vwf	A	T	6: 125,566,305	I185F	possibly damaging	Het
Wasf2	A	G	4: 133,185,004	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,973,589	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,254,884	S57P	probably benign	Het
Zxdc	A	G	6: 90,370,518	H287R	probably damaging	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
IGL02500:Ulk1	APN	5	110809134	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
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

Predicted Primers

PCR Primer
(F):5'- ACATTCTGGTACGGGTACTCTG -3'
(R):5'- TTGTGTGCAGGAATAGGGCC -3'

Sequencing Primer
(F):5'- TGGGGTGGCACCACTGG -3'
(R):5'- AATAGGGCCCCAGCTGTCTG -3'

Posted On

2016-09-07