Mutagenetix > Incidental Mutation

Incidental Mutation 'R6530:Adck5'

522295

Institutional Source

Beutler Lab

Gene Symbol

Adck5

Ensembl Gene

ENSMUSG00000022550

Gene Name

aarF domain containing kinase 5

Synonyms

MMRRC Submission

044656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76460559-76480012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76478047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 224 (D224E)

Ref Sequence

ENSEMBL: ENSMUSP00000125055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000162503] [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000230157] [ENSMUST00000231042]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071898

SMART Domains

Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022

Domain	Start	End	E-Value	Type
Pfam:MMS1_N	92	684	7.2e-42	PFAM
low complexity region	902	910	N/A	INTRINSIC
Pfam:CPSF_A	1071	1407	4.9e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160410

Predicted Effect

probably benign
Transcript: ENSMUST00000162503
AA Change: D224E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: D224E

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC
Pfam:ABC1	188	304	2.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160784
AA Change: D224E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: D224E

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC
Pfam:ABC1	188	304	9.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229982

Predicted Effect

probably benign
Transcript: ENSMUST00000161612

SMART Domains

Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161732

SMART Domains

Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229798

Predicted Effect

probably benign
Transcript: ENSMUST00000230157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230822

Predicted Effect

probably benign
Transcript: ENSMUST00000231042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231037

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,746,039 (GRCm39)	L74P	possibly damaging	Het
Adamtsl4	T	C	3: 95,588,364 (GRCm39)	T575A	probably benign	Het
Asic4	A	G	1: 75,448,979 (GRCm39)	N376S	probably damaging	Het
Atl3	T	A	19: 7,499,499 (GRCm39)	D254E	probably benign	Het
Cacnb2	G	T	2: 14,979,978 (GRCm39)	A274S	probably damaging	Het
Car2	T	C	3: 14,961,791 (GRCm39)	V159A	probably benign	Het
Ccdc138	G	C	10: 58,380,790 (GRCm39)	G474R	probably damaging	Het
Coq7	T	C	7: 118,124,558 (GRCm39)	T203A	probably benign	Het
Dnah12	T	C	14: 26,456,865 (GRCm39)	I877T	probably damaging	Het
Dnah7a	C	T	1: 53,542,856 (GRCm39)	R2438H	probably benign	Het
Efhc1	T	A	1: 21,031,366 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,190 (GRCm39)	R459C	probably damaging	Het
Fer1l4	A	G	2: 155,889,785 (GRCm39)		probably null	Het
Gm5114	G	A	7: 39,057,514 (GRCm39)	P702S	probably damaging	Het
Inpp5f	T	A	7: 128,265,802 (GRCm39)	Y182*	probably null	Het
Irf6	C	T	1: 192,839,657 (GRCm39)	T44M	probably damaging	Het
Loxhd1	A	G	18: 77,499,847 (GRCm39)	N87S	probably benign	Het
Mtrf1	A	T	14: 79,640,331 (GRCm39)	Q162L	possibly damaging	Het
Myoz3	G	T	18: 60,712,592 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nkd2	C	T	13: 73,970,809 (GRCm39)	G258R	probably null	Het
Or8k27	A	C	2: 86,275,826 (GRCm39)	S167A	probably benign	Het
Parg	T	C	14: 31,931,156 (GRCm39)	S176P	probably damaging	Het
Prdm2	A	C	4: 142,860,617 (GRCm39)	V891G	probably benign	Het
Rasl10a	T	A	11: 5,008,367 (GRCm39)	I21N	probably damaging	Het
Reg4	T	C	3: 98,132,148 (GRCm39)	V20A	probably benign	Het
Shprh	T	A	10: 11,070,011 (GRCm39)	S1462R	probably benign	Het
Spmip1	G	A	6: 29,471,950 (GRCm39)		probably null	Het
Sult1e1	T	C	5: 87,724,147 (GRCm39)	E270G	probably benign	Het
Trpm7	A	C	2: 126,654,631 (GRCm39)	F1436V	probably damaging	Het
Ttc33	A	G	15: 5,241,603 (GRCm39)		probably null	Het
Ucp2	A	T	7: 100,147,430 (GRCm39)	E161D	probably benign	Het
Vmn2r79	T	C	7: 86,651,252 (GRCm39)	F217S	possibly damaging	Het
Wdr93	G	A	7: 79,405,741 (GRCm39)	A207T	probably damaging	Het
Zbed6	A	G	1: 133,586,939 (GRCm39)	S133P	probably damaging	Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		probably null	Het

Other mutations in Adck5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Adck5	APN	15	76,473,300 (GRCm39)	missense	possibly damaging	0.59
IGL01366:Adck5	APN	15	76,479,816 (GRCm39)	makesense	probably null
IGL01534:Adck5	APN	15	76,478,926 (GRCm39)	missense	probably damaging	1.00
IGL02066:Adck5	APN	15	76,479,406 (GRCm39)	missense	probably damaging	0.96
IGL02615:Adck5	APN	15	76,473,367 (GRCm39)	missense	possibly damaging	0.69
IGL02746:Adck5	APN	15	76,473,354 (GRCm39)	missense	probably benign	0.26
R0865:Adck5	UTSW	15	76,479,843 (GRCm39)	missense	probably damaging	0.98
R0946:Adck5	UTSW	15	76,477,486 (GRCm39)	missense	possibly damaging	0.82
R3714:Adck5	UTSW	15	76,478,138 (GRCm39)	missense	probably damaging	1.00
R3945:Adck5	UTSW	15	76,479,400 (GRCm39)	missense	probably damaging	1.00
R4373:Adck5	UTSW	15	76,478,535 (GRCm39)	unclassified	probably benign
R4377:Adck5	UTSW	15	76,478,535 (GRCm39)	unclassified	probably benign
R5343:Adck5	UTSW	15	76,479,780 (GRCm39)	missense	probably damaging	0.98
R5372:Adck5	UTSW	15	76,478,707 (GRCm39)	unclassified	probably benign
R5890:Adck5	UTSW	15	76,477,785 (GRCm39)	missense	probably damaging	1.00
R6151:Adck5	UTSW	15	76,478,887 (GRCm39)	missense	possibly damaging	0.81
R6277:Adck5	UTSW	15	76,477,463 (GRCm39)	missense	possibly damaging	0.58
R7163:Adck5	UTSW	15	76,478,016 (GRCm39)	missense	probably damaging	1.00
R7427:Adck5	UTSW	15	76,478,585 (GRCm39)	missense	possibly damaging	0.78
R7447:Adck5	UTSW	15	76,479,396 (GRCm39)	missense	possibly damaging	0.93
R7685:Adck5	UTSW	15	76,479,588 (GRCm39)	nonsense	probably null
R7745:Adck5	UTSW	15	76,478,748 (GRCm39)	missense	probably benign	0.36
R8912:Adck5	UTSW	15	76,477,435 (GRCm39)	missense	probably damaging	1.00
R9133:Adck5	UTSW	15	76,460,612 (GRCm39)	start gained	probably benign
R9664:Adck5	UTSW	15	76,478,383 (GRCm39)	missense	probably damaging	1.00
X0013:Adck5	UTSW	15	76,479,542 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGAGTACATCCAGACGCTGC -3'
(R):5'- GATCGGTCAGGTCCAGGTTTAG -3'

Sequencing Primer
(F):5'- GTAAGCGGGGCTACTTCAG -3'
(R):5'- CAGGTCCAGGTTTAGCATTTAC -3'

Posted On

2018-06-06