Mutagenetix > Incidental Mutation

Incidental Mutation 'R7581:Ulk3'

586756

Institutional Source

Beutler Lab

Gene Symbol

Ulk3

Ensembl Gene

ENSMUSG00000032308

Gene Name

unc-51-like kinase 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7581 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57589452-57596233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57592042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 173 (L173P)

Ref Sequence

ENSEMBL: ENSMUSP00000059947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000053230] [ENSMUST00000215748]

AlphaFold

Q3U3Q1

Predicted Effect

probably benign
Transcript: ENSMUST00000045791

SMART Domains

Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188

Domain	Start	End	E-Value	Type
low complexity region	69	83	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
Pfam:SCAMP	117	293	2.6e-68	PFAM
low complexity region	309	328	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000053230
AA Change: L173P

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

SMART Domains

Protein: ENSMUSP00000059947
Gene: ENSMUSG00000032308
AA Change: L173P

Domain	Start	End	E-Value	Type
S_TKc	14	270	4.74e-98	SMART
MIT	277	354	1.1e-10	SMART
MIT	372	450	2.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215748

Meta Mutation Damage Score

0.9524

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	G	A	5: 109,690,788		probably benign	Het
Adamts9	A	C	6: 92,937,338	D196E	probably benign	Het
Adnp	A	T	2: 168,183,466	D636E	probably damaging	Het
Afdn	T	C	17: 13,849,238	V723A	probably damaging	Het
Arid1a	A	T	4: 133,680,351	F1897I	unknown	Het
Atp6v0b	T	C	4: 117,885,286	M137V	probably benign	Het
Bicd1	T	A	6: 149,519,004	I784N	probably damaging	Het
Cckbr	A	G	7: 105,433,786	T119A	probably benign	Het
Creb5	T	C	6: 53,681,237	L184P	probably damaging	Het
Cyp2a22	T	G	7: 26,938,148	K141Q	possibly damaging	Het
D16Ertd472e	T	C	16: 78,546,557	T219A	possibly damaging	Het
Ep400	A	T	5: 110,756,025	L236Q	unknown	Het
Exph5	A	G	9: 53,372,557	S313G	possibly damaging	Het
Gm10024	T	C	10: 77,711,563	V36A	unknown	Het
Gm5493	A	G	17: 22,747,274	E44G	probably damaging	Het
Gtdc1	A	T	2: 44,790,005		probably null	Het
Invs	T	C	4: 48,421,909	V847A	probably benign	Het
Kif18b	C	A	11: 102,914,722	Q236H	probably damaging	Het
Kntc1	A	G	5: 123,816,755	T2079A	probably benign	Het
Large2	A	G	2: 92,370,193	S89P	probably damaging	Het
Maml3	A	C	3: 51,856,768	D258E	probably benign	Het
Mdga2	A	T	12: 66,506,255	M868K	probably damaging	Het
Mtss1l	A	G	8: 110,726,213	E30G	possibly damaging	Het
Muc16	T	C	9: 18,645,614	I3128V	unknown	Het
Mug2	C	T	6: 122,063,711	T740I	probably damaging	Het
Noc2l	T	C	4: 156,245,449	V612A	probably benign	Het
Olfr420	G	A	1: 174,158,771		probably null	Het
Olfr979	A	T	9: 40,000,422	D268E	probably damaging	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pcdhga1	A	T	18: 37,662,177	N78I	probably damaging	Het
Pdgfd	A	G	9: 6,293,894	Y156C	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452		probably benign	Het
Pi4ka	C	T	16: 17,301,060	V1307I		Het
Pip5k1c	A	G	10: 81,308,960	N212D	probably damaging	Het
Plekha1	A	G	7: 130,910,865	T264A	probably benign	Het
Polr2b	A	G	5: 77,326,704	R463G	probably damaging	Het
Psd2	T	G	18: 35,979,997	D248E	probably benign	Het
Rag1	G	T	2: 101,643,304	Q498K	possibly damaging	Het
Ryr3	A	G	2: 112,753,027	I2853T	probably damaging	Het
Selenow	G	T	7: 15,922,382		probably null	Het
Sned1	C	T	1: 93,256,545	S165F	probably benign	Het
Spata31d1a	A	G	13: 59,704,139		probably null	Het
Taar4	C	A	10: 23,961,154	H221N	probably damaging	Het
Tgm6	A	T	2: 130,141,285	R265W	probably damaging	Het
Trpm1	A	T	7: 64,204,555	Q275L	probably benign	Het
Urah	A	T	7: 140,835,627	T3S	probably benign	Het
Vmn1r149	A	T	7: 22,437,904	V109D	probably damaging	Het
Xpc	A	T	6: 91,498,017		probably benign	Het
Zglp1	T	A	9: 21,062,708	K227N	probably damaging	Het

Other mutations in Ulk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0023:Ulk3	UTSW	9	57590356	nonsense	probably null
R0164:Ulk3	UTSW	9	57590686	missense	probably damaging	1.00
R0164:Ulk3	UTSW	9	57590686	missense	probably damaging	1.00
R0334:Ulk3	UTSW	9	57594227	unclassified	probably benign
R0391:Ulk3	UTSW	9	57594832	missense	probably benign
R1635:Ulk3	UTSW	9	57593160	critical splice acceptor site	probably null
R2696:Ulk3	UTSW	9	57590441	missense	possibly damaging	0.63
R3689:Ulk3	UTSW	9	57593794	missense	probably benign	0.44
R4151:Ulk3	UTSW	9	57592367	missense	possibly damaging	0.64
R4502:Ulk3	UTSW	9	57593229	missense	probably damaging	1.00
R4586:Ulk3	UTSW	9	57594310	missense	possibly damaging	0.81
R4746:Ulk3	UTSW	9	57592918	missense	probably benign
R5034:Ulk3	UTSW	9	57593764	missense	possibly damaging	0.88
R5288:Ulk3	UTSW	9	57590740	missense	possibly damaging	0.81
R5385:Ulk3	UTSW	9	57590740	missense	possibly damaging	0.81
R5386:Ulk3	UTSW	9	57590740	missense	possibly damaging	0.81
R7480:Ulk3	UTSW	9	57591240	nonsense	probably null
R8848:Ulk3	UTSW	9	57589607	missense	probably benign
R8976:Ulk3	UTSW	9	57594937	unclassified	probably benign
R9002:Ulk3	UTSW	9	57593259	missense	probably damaging	1.00
Z1177:Ulk3	UTSW	9	57589545	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGCCATGCAGAGGGTTTC -3'
(R):5'- TCTCATCTGAACCCAGGAGAGG -3'

Sequencing Primer
(F):5'- CCCCAGGGATATAGGAGTATTGCAC -3'
(R):5'- AACCCAGGAGAGGCCCAG -3'

Posted On

2019-10-24