Mutagenetix > Incidental Mutation

Incidental Mutation 'R2859:Ulk1'

252635

Institutional Source

Beutler Lab

Gene Symbol

Ulk1

Ensembl Gene

ENSMUSG00000029512

Gene Name

unc-51 like kinase 1

Synonyms

Unc51.1

MMRRC Submission

040449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110784488-110810097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110794629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 255 (L255P)

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: L255P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: L255P

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

noncoding transcript
Transcript: ENSMUST00000196440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200099

Predicted Effect

probably damaging
Transcript: ENSMUST00000200299
AA Change: L255P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: L255P

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

0.9390

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,281,314	Y1301C	possibly damaging	Het
Amfr	A	T	8: 94,005,214	N11K	probably damaging	Het
C87977	A	G	4: 144,209,622	S23P	probably benign	Het
Cadm3	A	G	1: 173,346,545	S34P	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh23	C	T	10: 60,382,653		probably null	Het
Ceacam1	T	A	7: 25,474,017	I249F	probably damaging	Het
Cuzd1	C	T	7: 131,316,134	V246M	probably damaging	Het
Ehd2	A	T	7: 15,964,129	V61E	probably damaging	Het
Fam71b	T	C	11: 46,405,212	I137T	probably damaging	Het
Fibin	C	T	2: 110,362,197	R200H	probably damaging	Het
Fmo9	A	C	1: 166,673,667	F237C	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Iqgap3	C	A	3: 88,107,596	S873*	probably null	Het
Ism2	T	C	12: 87,299,663	M15V	unknown	Het
Itk	T	G	11: 46,344,835		probably benign	Het
Mastl	C	A	2: 23,139,967	C249F	probably damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Mrgprb4	T	A	7: 48,198,336	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,288,925	Y258H	probably damaging	Het
Ntmt1	A	G	2: 30,822,365	H140R	probably damaging	Het
Olfr139	C	T	11: 74,044,827	G149D	possibly damaging	Het
Olfr311	T	A	11: 58,841,882	V256E	probably benign	Het
Olfr340	T	C	2: 36,453,130	S182P	probably benign	Het
Olfr401	T	C	11: 74,121,982	I231T	probably damaging	Het
Parm1	A	G	5: 91,594,306	T178A	possibly damaging	Het
Patl1	T	C	19: 11,923,831	F282L	probably damaging	Het
Phospho2	T	C	2: 69,795,851	V117A	possibly damaging	Het
Ppp4r3a	T	C	12: 101,042,647		probably null	Het
Rbm17	A	G	2: 11,590,704	F230S	possibly damaging	Het
Robo3	C	A	9: 37,428,104	G196*	probably null	Het
Samhd1	A	G	2: 157,106,229		probably null	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Thbs4	A	G	13: 92,790,708	F91S	probably benign	Het
Trim34b	A	T	7: 104,336,232	N358I	probably benign	Het
Vmn2r104	T	A	17: 20,048,193	I5F	possibly damaging	Het
Vrk2	C	A	11: 26,483,324	S286I	possibly damaging	Het
Zswim3	T	C	2: 164,820,389	L263P	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGGGAGGAATACAACCCAC -3'
(R):5'- TTGCTACCTCAACAGGCCAG -3'

Sequencing Primer
(F):5'- CTTGGGAGGAATACAACCCACTGTAG -3'
(R):5'- AGCAGCCCTCAGGATTTGC -3'

Posted On

2014-12-04