Mutagenetix > Incidental Mutation

Incidental Mutation 'R4502:Ulk3'

331862

Institutional Source

Beutler Lab

Gene Symbol

Ulk3

Ensembl Gene

ENSMUSG00000032308

Gene Name

unc-51-like kinase 3

Synonyms

1200015E14Rik

MMRRC Submission

041754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57496735-57503516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57500512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 307 (Y307C)

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: Y307C

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

SMART Domains

Protein: ENSMUSP00000059947
Gene: ENSMUSG00000032308
AA Change: Y307C

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

noncoding transcript
Transcript: ENSMUST00000213212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215146

Predicted Effect

probably benign
Transcript: ENSMUST00000215748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217100

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,369,962 (GRCm39)	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,775 (GRCm39)	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,407,246 (GRCm39)	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 106,292,430 (GRCm39)	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,236,192 (GRCm39)	S104C	probably damaging	Het
Cand1	T	C	10: 119,052,572 (GRCm39)	T185A	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Chodl	A	G	16: 78,728,332 (GRCm39)	S26G	possibly damaging	Het
Cic	C	T	7: 24,987,892 (GRCm39)	P620S	probably damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Dpyd	G	T	3: 118,591,186 (GRCm39)	G225C	probably damaging	Het
Dst	G	A	1: 34,286,772 (GRCm39)	V5560M	probably damaging	Het
Eea1	G	A	10: 95,875,427 (GRCm39)	E1233K	probably benign	Het
Fryl	T	C	5: 73,245,740 (GRCm39)	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
Hc	T	C	2: 34,896,264 (GRCm39)	D1173G	probably benign	Het
Htr2a	T	A	14: 74,879,428 (GRCm39)	M19K	probably benign	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Kcnt2	G	T	1: 140,435,485 (GRCm39)	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klhl1	A	G	14: 96,755,282 (GRCm39)	S158P	probably benign	Het
Ldb2	T	C	5: 44,826,749 (GRCm39)	D62G	probably damaging	Het
Ldhb	T	C	6: 142,436,183 (GRCm39)	K329E	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Or2p2	A	T	13: 21,256,916 (GRCm39)	I185N	probably damaging	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pi4kb	T	A	3: 94,903,918 (GRCm39)	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,435,750 (GRCm39)	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,085,339 (GRCm39)	R428I	probably benign	Het
Rbbp8nl	G	T	2: 179,920,989 (GRCm39)	T465N	possibly damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,835,211 (GRCm39)	K154R	probably benign	Het
Sil1	T	C	18: 35,450,928 (GRCm39)	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,067,964 (GRCm39)	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,556,154 (GRCm39)	N264S	probably benign	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Tdrd5	T	A	1: 156,128,334 (GRCm39)	M141L	probably benign	Het
Tdrd9	T	C	12: 111,960,259 (GRCm39)	C182R	probably damaging	Het
Thap4	T	C	1: 93,678,709 (GRCm39)		probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tnks1bp1	C	T	2: 84,892,991 (GRCm39)	R973*	probably null	Het
Usp25	T	C	16: 76,912,284 (GRCm39)	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,764 (GRCm39)	T39S	probably benign	Het
Vps33b	G	A	7: 79,937,655 (GRCm39)	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,219,363 (GRCm39)	S130P	probably damaging	Het
Zfp236	T	C	18: 82,655,079 (GRCm39)	E730G	probably benign	Het
Zfp689	C	A	7: 127,047,925 (GRCm39)	V36L	probably benign	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly damaging	Het

Other mutations in Ulk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0023:Ulk3	UTSW	9	57,497,639 (GRCm39)	nonsense	probably null
R0164:Ulk3	UTSW	9	57,497,969 (GRCm39)	missense	probably damaging	1.00
R0164:Ulk3	UTSW	9	57,497,969 (GRCm39)	missense	probably damaging	1.00
R0334:Ulk3	UTSW	9	57,501,510 (GRCm39)	unclassified	probably benign
R0391:Ulk3	UTSW	9	57,502,115 (GRCm39)	missense	probably benign
R1635:Ulk3	UTSW	9	57,500,443 (GRCm39)	critical splice acceptor site	probably null
R2696:Ulk3	UTSW	9	57,497,724 (GRCm39)	missense	possibly damaging	0.63
R3689:Ulk3	UTSW	9	57,501,077 (GRCm39)	missense	probably benign	0.44
R4151:Ulk3	UTSW	9	57,499,650 (GRCm39)	missense	possibly damaging	0.64
R4586:Ulk3	UTSW	9	57,501,593 (GRCm39)	missense	possibly damaging	0.81
R4746:Ulk3	UTSW	9	57,500,201 (GRCm39)	missense	probably benign
R5034:Ulk3	UTSW	9	57,501,047 (GRCm39)	missense	possibly damaging	0.88
R5288:Ulk3	UTSW	9	57,498,023 (GRCm39)	missense	possibly damaging	0.81
R5385:Ulk3	UTSW	9	57,498,023 (GRCm39)	missense	possibly damaging	0.81
R5386:Ulk3	UTSW	9	57,498,023 (GRCm39)	missense	possibly damaging	0.81
R7480:Ulk3	UTSW	9	57,498,523 (GRCm39)	nonsense	probably null
R7581:Ulk3	UTSW	9	57,499,325 (GRCm39)	missense	probably damaging	1.00
R8848:Ulk3	UTSW	9	57,496,890 (GRCm39)	missense	probably benign
R8976:Ulk3	UTSW	9	57,502,220 (GRCm39)	unclassified	probably benign
R9002:Ulk3	UTSW	9	57,500,542 (GRCm39)	missense	probably damaging	1.00
Z1177:Ulk3	UTSW	9	57,496,828 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTAGAGCAGGTTGCCACAG -3'
(R):5'- GTCTGCAGAAGGTGAAGGGTTC -3'

Sequencing Primer
(F):5'- CACAGGGCACAGGGGTGG -3'
(R):5'- GATGCTGTCCTGAAAGCCTAC -3'

Posted On

2015-07-21