Mutagenetix > Incidental Mutation

Incidental Mutation 'R6299:Ulk1'

508960

Institutional Source

Beutler Lab

Gene Symbol

Ulk1

Ensembl Gene

ENSMUSG00000029512

Gene Name

unc-51 like kinase 1

Synonyms

Unc51.1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110784488-110810097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110791097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 492 (K492E)

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

possibly damaging
Transcript: ENSMUST00000031490
AA Change: K492E

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: K492E

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

possibly damaging
Transcript: ENSMUST00000200299
AA Change: K492E

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: K492E

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

0.0722

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	G	A	6: 118,418,515	R24W	probably damaging	Het
C130050O18Rik	A	T	5: 139,414,371	S60C	probably damaging	Het
Cabcoco1	A	G	10: 68,436,890	Y222H	probably damaging	Het
Cc2d1b	T	C	4: 108,628,138	V559A	probably benign	Het
Cgrrf1	T	A	14: 46,840,190	N46K	probably damaging	Het
Clca3a1	T	C	3: 144,758,514	D114G	probably damaging	Het
Clcnkb	T	A	4: 141,410,723	L279F	probably damaging	Het
Cr2	T	C	1: 195,168,646	T151A	probably damaging	Het
Creb3l3	C	T	10: 81,088,613	E236K	probably damaging	Het
Dcstamp	T	A	15: 39,755,203	V336D	probably damaging	Het
Dopey1	T	G	9: 86,504,212	F379V	probably damaging	Het
Esf1	T	C	2: 140,123,634	K714R	possibly damaging	Het
Exoc3l4	A	T	12: 111,422,079	M1L	possibly damaging	Het
Extl3	T	C	14: 65,076,672	R354G	probably benign	Het
Fastkd3	T	C	13: 68,587,736	L535P	probably damaging	Het
Gab2	A	G	7: 97,081,859	T12A	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Golga4	T	A	9: 118,557,370	S1187T	probably benign	Het
Haus3	A	G	5: 34,167,796	V173A	probably benign	Het
Herc2	T	A	7: 56,135,055	Y1416N	possibly damaging	Het
Hspg2	A	G	4: 137,544,705	Y2566C	probably damaging	Het
Inpp5f	A	T	7: 128,636,160	T34S	possibly damaging	Het
Iqck	G	A	7: 118,876,262	G70S	unknown	Het
Jade1	T	C	3: 41,613,725	F743L	probably damaging	Het
Kif5a	T	C	10: 127,233,821	K845R	probably damaging	Het
Klhl30	A	G	1: 91,357,914		probably null	Het
Map2k1	T	C	9: 64,214,490	D67G	possibly damaging	Het
Mcm9	A	C	10: 53,537,681	C434W	probably damaging	Het
Muc4	T	G	16: 32,752,035	S638A	possibly damaging	Het
Nectin3	A	G	16: 46,463,982	V113A	probably damaging	Het
Nfya	T	C	17: 48,392,910		probably benign	Het
Nup155	G	T	15: 8,128,438	A460S	possibly damaging	Het
Nup210	T	C	6: 91,074,288	E371G	possibly damaging	Het
Olfm3	T	C	3: 115,120,983	S228P	probably damaging	Het
Olfr659	C	A	7: 104,670,868	D55E	probably benign	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Plin1	A	C	7: 79,721,476	V500G	probably benign	Het
Ppfia1	A	C	7: 144,510,312	M513R	probably benign	Het
Ppp1cb	T	A	5: 32,483,454	C27*	probably null	Het
Prss22	T	A	17: 23,996,434	I123F	probably damaging	Het
Rbm24	G	T	13: 46,419,073	V15L	probably damaging	Het
Reln	T	C	5: 22,286,944	T97A	possibly damaging	Het
Sipa1l2	T	C	8: 125,453,464	T1065A	possibly damaging	Het
Sipa1l3	A	C	7: 29,366,549		probably null	Het
Snrnp200	T	A	2: 127,222,161	Y689*	probably null	Het
Srcap	T	C	7: 127,530,454		probably benign	Het
Sv2a	T	C	3: 96,188,249		probably null	Het
Tcf12	A	T	9: 71,858,929	V474D	probably damaging	Het
Tpcn2	A	T	7: 145,262,243	S403T	probably damaging	Het
Trim65	C	A	11: 116,126,551	A362S	probably benign	Het
Trmt1	T	A	8: 84,697,290	C36*	probably null	Het
Trpm8	T	A	1: 88,354,479	L699Q	probably damaging	Het
Ube2m	A	C	7: 13,035,870	I116R	probably damaging	Het
Usp40	T	A	1: 87,997,927	K193N	probably damaging	Het
Vmn1r3	A	G	4: 3,185,098	S70P	possibly damaging	Het
Vmn2r2	T	A	3: 64,116,653	K836*	probably null	Het
Vmn2r75	T	A	7: 86,165,274	H337L	probably benign	Het
Wars	G	A	12: 108,861,383	T437M	probably benign	Het
Zdhhc5	T	C	2: 84,690,481	T451A	probably benign	Het
Zfp788	T	G	7: 41,648,541	H180Q	possibly damaging	Het
Zkscan7	A	G	9: 122,888,717	E59G	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
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
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'- GGTTCCCACTGGTAGGAAAAGG -3'
(R):5'- GTTTCATGTAAACTGCAGAAGGC -3'

Sequencing Primer
(F):5'- GGTGGCTAGATCAGACCACAGC -3'
(R):5'- CAACTTCTGTTAGTGATGGAAGTGAC -3'

Posted On

2018-04-02