Mutagenetix > Incidental Mutation

Incidental Mutation 'R4419:Ulk1'

326992

Institutional Source

Beutler Lab

Gene Symbol

Ulk1

Ensembl Gene

ENSMUSG00000029512

Gene Name

unc-51 like kinase 1

Synonyms

Unc51.1

MMRRC Submission

041140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110784488-110810097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110789357 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000199568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200099

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	G	A	17: 24,158,678	P126L	probably benign	Het
Arfip2	T	C	7: 105,639,063	T44A	probably damaging	Het
B4galt1	A	G	4: 40,853,537	V90A	probably benign	Het
Bad	C	A	19: 6,950,685	A115E	probably benign	Het
Bicc1	A	G	10: 70,946,974	L521P	possibly damaging	Het
Caskin1	T	C	17: 24,504,709	S824P	probably damaging	Het
Cblb	T	A	16: 52,047,258	D76E	possibly damaging	Het
Celsr3	G	T	9: 108,843,244	A2572S	possibly damaging	Het
Csmd3	T	C	15: 47,704,311	Q2152R	probably damaging	Het
D2hgdh	T	A	1: 93,829,813	V150E	probably damaging	Het
Ddn	C	A	15: 98,805,611	W600L	probably benign	Het
Dicer1	A	T	12: 104,705,114	Y966N	probably damaging	Het
Dsp	T	A	13: 38,195,132	I1352N	probably damaging	Het
Duox1	G	A	2: 122,327,126	A578T	probably benign	Het
Dysf	T	C	6: 84,207,242		probably null	Het
Elmo2	T	C	2: 165,311,755		probably null	Het
Heg1	A	T	16: 33,727,435	E864V	probably benign	Het
Hoxb9	T	C	11: 96,271,981	V147A	probably benign	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Ky	G	A	9: 102,542,710	V639I	probably damaging	Het
Med16	G	A	10: 79,898,382	A566V	probably benign	Het
Mettl17	G	T	14: 51,887,272	G167C	possibly damaging	Het
Mgat4b	T	C	11: 50,232,986	F318L	probably damaging	Het
Mug2	C	A	6: 122,079,630	A1178D	probably damaging	Het
Myo3b	A	G	2: 70,096,362	D51G	probably damaging	Het
Naip2	T	C	13: 100,160,625	N968D	probably benign	Het
Nbea	T	C	3: 56,009,600	H820R	probably damaging	Het
Nqo1	C	T	8: 107,392,117		probably null	Het
Olfr1328	A	T	4: 118,934,389	I153N	possibly damaging	Het
Olfr780	T	C	10: 129,321,815	F64S	possibly damaging	Het
Olfr916	C	T	9: 38,658,069	V108I	probably benign	Het
Ppargc1a	T	C	5: 51,494,702	D218G	probably damaging	Het
Rras	A	G	7: 45,020,579	D145G	probably damaging	Het
Scn3a	C	A	2: 65,466,960	G1452C	probably damaging	Het
Slc22a2	C	A	17: 12,612,586	S421*	probably null	Het
Slc39a10	A	G	1: 46,810,066	F797L	probably benign	Het
Spta1	T	A	1: 174,247,424	Y2405*	probably null	Het
Ss18	A	G	18: 14,633,605	Y359H	unknown	Het
St14	C	T	9: 31,096,928	C537Y	probably damaging	Het
Tmem252	T	A	19: 24,677,546	Y96N	probably damaging	Het
Trafd1	T	C	5: 121,373,333	D474G	probably benign	Het
Trmt1l	A	G	1: 151,440,808	I20M	probably damaging	Het
Vmn1r43	A	G	6: 89,869,647	S286P	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
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
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'- TCAGGCCAGGCATAACTAGAC -3'
(R):5'- GGGACTTTCTCAGTGCTGTC -3'

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

Posted On

2015-07-07