Mutagenetix > Incidental Mutation

Incidental Mutation 'R2764:Ulk1'

254192

Institutional Source

Beutler Lab

Gene Symbol

Ulk1

Ensembl Gene

ENSMUSG00000029512

Gene Name

unc-51 like kinase 1

Synonyms

Unc51.1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2764 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110932354-110957963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110937223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 691 (R691Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143536 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031490
AA Change: R685Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: R685Q

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

probably benign
Transcript: ENSMUST00000200299
AA Change: R691Q

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: R691Q

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

noncoding transcript
Transcript: ENSMUST00000199568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199717

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,324,791 (GRCm39)	D554E	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Bcl2	C	T	1: 106,640,166 (GRCm39)	E149K	probably damaging	Het
Clcn4	G	T	7: 7,299,798 (GRCm39)	D10E	possibly damaging	Het
Efr3a	T	A	15: 65,721,619 (GRCm39)	F387L	possibly damaging	Het
Gm9923	C	A	10: 72,145,460 (GRCm39)	H104N	probably benign	Het
Hmcn2	C	T	2: 31,278,310 (GRCm39)	P1671S	probably damaging	Het
Htr1d	G	A	4: 136,170,376 (GRCm39)	A202T	possibly damaging	Het
Ighv9-3	T	A	12: 114,104,490 (GRCm39)	Q58L	probably damaging	Het
Kat6a	A	G	8: 23,422,194 (GRCm39)	K835E	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Mrps30	A	G	13: 118,521,124 (GRCm39)	Y272H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sipa1l2	T	C	8: 126,219,113 (GRCm39)	M75V	probably damaging	Het
Ttn	T	A	2: 76,621,439 (GRCm39)	Y13921F	probably benign	Het
Vac14	T	C	8: 111,437,087 (GRCm39)	F600S	probably damaging	Het

Other mutations in Ulk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ulk1	APN	5	110,935,738 (GRCm39)	missense	probably damaging	1.00
IGL00916:Ulk1	APN	5	110,940,877 (GRCm39)	missense	probably damaging	1.00
IGL00951:Ulk1	APN	5	110,940,270 (GRCm39)	missense	possibly damaging	0.85
IGL02404:Ulk1	APN	5	110,944,100 (GRCm39)	splice site	probably null
IGL02415:Ulk1	APN	5	110,935,487 (GRCm39)	missense	probably damaging	1.00
IGL02500:Ulk1	APN	5	110,957,000 (GRCm39)	missense	probably damaging	1.00
IGL02696:Ulk1	APN	5	110,940,918 (GRCm39)	missense	probably damaging	1.00
R0086:Ulk1	UTSW	5	110,935,573 (GRCm39)	splice site	probably benign
R0092:Ulk1	UTSW	5	110,944,193 (GRCm39)	missense	probably null	1.00
R0158:Ulk1	UTSW	5	110,936,810 (GRCm39)	splice site	probably benign
R0387:Ulk1	UTSW	5	110,936,663 (GRCm39)	missense	possibly damaging	0.91
R0453:Ulk1	UTSW	5	110,938,951 (GRCm39)	missense	probably damaging	1.00
R0837:Ulk1	UTSW	5	110,937,411 (GRCm39)	splice site	probably benign
R1244:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R1245:Ulk1	UTSW	5	110,937,206 (GRCm39)	critical splice donor site	probably null
R1268:Ulk1	UTSW	5	110,938,143 (GRCm39)	missense	probably damaging	1.00
R1342:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R1586:Ulk1	UTSW	5	110,937,382 (GRCm39)	missense	probably damaging	1.00
R1590:Ulk1	UTSW	5	110,943,632 (GRCm39)	missense	probably damaging	1.00
R1816:Ulk1	UTSW	5	110,935,697 (GRCm39)	missense	probably damaging	1.00
R1837:Ulk1	UTSW	5	110,937,247 (GRCm39)	missense	probably damaging	1.00
R1924:Ulk1	UTSW	5	110,938,936 (GRCm39)	missense	probably damaging	0.97
R1992:Ulk1	UTSW	5	110,935,017 (GRCm39)	missense	probably damaging	1.00
R2126:Ulk1	UTSW	5	110,940,302 (GRCm39)	missense	probably benign	0.27
R2276:Ulk1	UTSW	5	110,936,028 (GRCm39)	missense	probably benign	0.00
R2310:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R2311:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R2312:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R2760:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R2762:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R2763:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R2859:Ulk1	UTSW	5	110,942,495 (GRCm39)	missense	probably damaging	1.00
R2932:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R3760:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R3761:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R3762:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R3763:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R4334:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R4419:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R4471:Ulk1	UTSW	5	110,937,223 (GRCm39)	missense	probably benign	0.03
R4615:Ulk1	UTSW	5	110,936,912 (GRCm39)	missense	probably damaging	1.00
R4776:Ulk1	UTSW	5	110,936,813 (GRCm39)	critical splice donor site	probably null
R4820:Ulk1	UTSW	5	110,939,996 (GRCm39)	missense	probably benign
R4912:Ulk1	UTSW	5	110,935,455 (GRCm39)	missense	probably damaging	1.00
R6299:Ulk1	UTSW	5	110,938,963 (GRCm39)	missense	possibly damaging	0.78
R6754:Ulk1	UTSW	5	110,938,259 (GRCm39)	missense	possibly damaging	0.91
R7233:Ulk1	UTSW	5	110,956,908 (GRCm39)	missense	probably damaging	1.00
R7724:Ulk1	UTSW	5	110,940,270 (GRCm39)	missense	probably benign	0.44
R7751:Ulk1	UTSW	5	110,957,078 (GRCm39)	missense	probably damaging	1.00
R7823:Ulk1	UTSW	5	110,946,780 (GRCm39)	missense	probably damaging	1.00
R8379:Ulk1	UTSW	5	110,935,531 (GRCm39)	missense	probably damaging	1.00
R8489:Ulk1	UTSW	5	110,947,002 (GRCm39)	nonsense	probably null
R8880:Ulk1	UTSW	5	110,934,288 (GRCm39)	missense	probably damaging	1.00
R9214:Ulk1	UTSW	5	110,936,663 (GRCm39)	missense	possibly damaging	0.82
X0025:Ulk1	UTSW	5	110,939,995 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCCAGGCATAACTAGACTC -3'
(R):5'- GGGACTTTCTCAGTGCTGTC -3'

Sequencing Primer
(F):5'- GGCATAACTAGACTCAGCTTCAGTC -3'
(R):5'- TTTCCCTCCTAGGCCGGG -3'

Posted On

2014-12-04