Mutagenetix > Incidental Mutation

Incidental Mutation 'R0107:Adck1'

33341

Institutional Source

Beutler Lab

Gene Symbol

Adck1

Ensembl Gene

ENSMUSG00000021044

Gene Name

aarF domain containing kinase 1

Synonyms

2610005A10Rik

MMRRC Submission

038393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0107 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

88327324-88428494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88413426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 253 (W253R)

Ref Sequence

ENSEMBL: ENSMUSP00000152821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101165] [ENSMUST00000166940] [ENSMUST00000222695]

AlphaFold

Q9D0L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101165
AA Change: W253R

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: W253R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
Pfam:ABC1	136	252	1.7e-42	PFAM
Pfam:Pkinase	150	348	1.3e-5	PFAM
low complexity region	498	508	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166940
AA Change: W253R

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: W253R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
Pfam:ABC1	136	252	2.2e-42	PFAM
Pfam:Pkinase	150	357	6.2e-6	PFAM
low complexity region	498	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222124

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222695
AA Change: W253R

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223538

Meta Mutation Damage Score

0.8624

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.6%

Validation Efficiency

99% (71/72)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,737 (GRCm39)	L397I	possibly damaging	Het
Abca1	A	G	4: 53,080,834 (GRCm39)	V825A	probably benign	Het
Adamts7	T	C	9: 90,062,773 (GRCm39)	I409T	possibly damaging	Het
Afg3l2	A	G	18: 67,564,836 (GRCm39)	F213L	probably damaging	Het
Ankle2	T	C	5: 110,400,893 (GRCm39)	V743A	probably benign	Het
Ankrd34c	C	T	9: 89,611,537 (GRCm39)	R268H	probably benign	Het
Arb2a	A	G	13: 78,050,933 (GRCm39)	D145G	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc7b	T	G	8: 129,904,678 (GRCm39)		probably benign	Het
Cd320	A	T	17: 34,067,059 (GRCm39)	M169L	probably benign	Het
Chn1	A	G	2: 73,445,028 (GRCm39)	Y338H	probably damaging	Het
Chuk	T	A	19: 44,085,358 (GRCm39)	S263C	probably damaging	Het
Dennd4b	C	A	3: 90,180,043 (GRCm39)	P663T	possibly damaging	Het
Dnajc24	T	G	2: 105,832,259 (GRCm39)		probably benign	Het
Fbn2	A	G	18: 58,189,275 (GRCm39)	V1617A	probably benign	Het
Fermt2	T	C	14: 45,702,279 (GRCm39)	N502D	probably damaging	Het
Frrs1	A	T	3: 116,690,365 (GRCm39)	I3F	probably damaging	Het
Fut1	C	A	7: 45,268,270 (GRCm39)	Q20K	possibly damaging	Het
Gbf1	T	C	19: 46,273,267 (GRCm39)	V1709A	probably benign	Het
Gfra3	G	T	18: 34,844,359 (GRCm39)	H60Q	probably benign	Het
Gm10750	T	A	2: 148,857,973 (GRCm39)	M93L	unknown	Het
Hmcn1	T	A	1: 150,462,766 (GRCm39)	I5124L	probably benign	Het
Hps3	A	C	3: 20,084,960 (GRCm39)	L76R	probably damaging	Het
Ifrd1	T	A	12: 40,264,080 (GRCm39)	Q105L	probably damaging	Het
Irs2	A	T	8: 11,054,691 (GRCm39)	V1247E	probably damaging	Het
Itgal	T	C	7: 126,927,731 (GRCm39)		probably benign	Het
Ivns1abp	A	T	1: 151,237,321 (GRCm39)	N495I	probably damaging	Het
Kank1	T	A	19: 25,407,730 (GRCm39)		probably benign	Het
Mroh8	T	C	2: 157,067,388 (GRCm39)	Q657R	probably benign	Het
Mthfd1l	T	C	10: 3,991,838 (GRCm39)	Y597H	probably benign	Het
Myom1	G	A	17: 71,384,360 (GRCm39)	V692I	probably damaging	Het
Or13a17	A	T	7: 140,271,258 (GRCm39)	M147L	probably benign	Het
Or1j18	T	G	2: 36,624,730 (GRCm39)	Y132*	probably null	Het
Or7g20	A	G	9: 18,946,629 (GRCm39)	D70G	probably damaging	Het
Palmd	A	T	3: 116,717,725 (GRCm39)	H257Q	probably damaging	Het
Pcnx2	A	T	8: 126,480,325 (GRCm39)	V1994D	probably benign	Het
Phkb	G	A	8: 86,743,560 (GRCm39)	G553S	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Ptprn	A	T	1: 75,232,356 (GRCm39)	L453M	probably damaging	Het
Ptprz1	T	A	6: 23,000,569 (GRCm39)	D886E	probably damaging	Het
Rcn1	T	A	2: 105,225,126 (GRCm39)	I110F	possibly damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Slc6a19	A	G	13: 73,832,176 (GRCm39)	Y467H	possibly damaging	Het
Slc9c1	T	A	16: 45,395,783 (GRCm39)	D611E	probably benign	Het
Slitrk6	T	C	14: 110,989,395 (GRCm39)	E104G	possibly damaging	Het
Spag17	A	T	3: 99,958,103 (GRCm39)	K920N	possibly damaging	Het
St3gal5	A	G	6: 72,119,133 (GRCm39)	S82G	probably benign	Het
Tlk1	T	C	2: 70,544,333 (GRCm39)	*767W	probably null	Het
Tln2	A	G	9: 67,277,988 (GRCm39)	V342A	probably damaging	Het
Tmem104	T	A	11: 115,093,006 (GRCm39)	M132K	probably damaging	Het
Tmem184c	A	G	8: 78,323,702 (GRCm39)	S387P	possibly damaging	Het
Tmtc1	A	G	6: 148,327,411 (GRCm39)	V34A	possibly damaging	Het
Trim46	A	G	3: 89,143,640 (GRCm39)	F596S	probably damaging	Het
Unc79	T	A	12: 103,100,784 (GRCm39)	D1870E	possibly damaging	Het
Utp20	T	C	10: 88,614,253 (GRCm39)	T1234A	probably benign	Het
Vmn1r31	T	A	6: 58,449,728 (GRCm39)	T46S	probably benign	Het
Vps13a	A	T	19: 16,669,188 (GRCm39)	L1341Q	probably benign	Het
Wdr72	A	T	9: 74,117,715 (GRCm39)	D821V	probably damaging	Het
Zfhx4	T	C	3: 5,464,042 (GRCm39)	L1400P	probably damaging	Het
Zfp217	T	A	2: 169,956,794 (GRCm39)	K735*	probably null	Het
Zfp235	A	G	7: 23,836,541 (GRCm39)	Q29R	probably damaging	Het
Zfp628	A	G	7: 4,923,167 (GRCm39)	Y463C	probably damaging	Het
Zkscan4	A	G	13: 21,668,751 (GRCm39)	T401A	possibly damaging	Het

Other mutations in Adck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Adck1	APN	12	88,335,192 (GRCm39)	missense	probably benign	0.00
IGL00822:Adck1	APN	12	88,422,286 (GRCm39)	missense	probably damaging	0.99
IGL01370:Adck1	APN	12	88,423,503 (GRCm39)	splice site	probably benign
IGL01480:Adck1	APN	12	88,423,635 (GRCm39)	nonsense	probably null
IGL01994:Adck1	APN	12	88,397,926 (GRCm39)	missense	possibly damaging	0.50
IGL02089:Adck1	APN	12	88,413,480 (GRCm39)	missense	probably damaging	0.96
IGL03058:Adck1	APN	12	88,425,900 (GRCm39)	missense	probably benign
IGL03196:Adck1	APN	12	88,397,885 (GRCm39)	missense	probably damaging	1.00
IGL03307:Adck1	APN	12	88,425,823 (GRCm39)	missense	possibly damaging	0.94
full-figured	UTSW	12	88,407,887 (GRCm39)	missense	possibly damaging	0.63
0152:Adck1	UTSW	12	88,397,921 (GRCm39)	missense	probably benign	0.03
R0164:Adck1	UTSW	12	88,422,280 (GRCm39)	missense	probably damaging	0.99
R0164:Adck1	UTSW	12	88,422,280 (GRCm39)	missense	probably damaging	0.99
R0179:Adck1	UTSW	12	88,425,942 (GRCm39)	missense	possibly damaging	0.91
R0505:Adck1	UTSW	12	88,338,461 (GRCm39)	splice site	probably benign
R0561:Adck1	UTSW	12	88,335,204 (GRCm39)	missense	possibly damaging	0.49
R0831:Adck1	UTSW	12	88,335,118 (GRCm39)	start codon destroyed	probably null	1.00
R1005:Adck1	UTSW	12	88,368,872 (GRCm39)	missense	probably damaging	0.98
R1524:Adck1	UTSW	12	88,368,854 (GRCm39)	missense	probably damaging	1.00
R2016:Adck1	UTSW	12	88,427,862 (GRCm39)	missense	probably damaging	1.00
R4438:Adck1	UTSW	12	88,397,920 (GRCm39)	nonsense	probably null
R4745:Adck1	UTSW	12	88,368,949 (GRCm39)	splice site	probably null
R4827:Adck1	UTSW	12	88,413,489 (GRCm39)	missense	probably benign	0.06
R4859:Adck1	UTSW	12	88,407,865 (GRCm39)	missense	probably benign	0.02
R4885:Adck1	UTSW	12	88,407,865 (GRCm39)	missense	probably benign	0.02
R4921:Adck1	UTSW	12	88,407,908 (GRCm39)	missense	probably benign	0.10
R5383:Adck1	UTSW	12	88,422,373 (GRCm39)	missense	probably benign	0.04
R5958:Adck1	UTSW	12	88,425,822 (GRCm39)	missense	probably benign	0.33
R6028:Adck1	UTSW	12	88,368,902 (GRCm39)	missense	probably benign
R6199:Adck1	UTSW	12	88,407,887 (GRCm39)	missense	possibly damaging	0.63
R6317:Adck1	UTSW	12	88,368,921 (GRCm39)	missense	probably damaging	1.00
R6616:Adck1	UTSW	12	88,427,958 (GRCm39)	missense	unknown
R6715:Adck1	UTSW	12	88,425,850 (GRCm39)	missense	probably damaging	1.00
R6915:Adck1	UTSW	12	88,422,390 (GRCm39)	missense	probably damaging	1.00
R7295:Adck1	UTSW	12	88,397,815 (GRCm39)	missense	probably damaging	1.00
R7387:Adck1	UTSW	12	88,427,822 (GRCm39)	missense	probably benign
R7520:Adck1	UTSW	12	88,425,975 (GRCm39)	critical splice donor site	probably null
R7562:Adck1	UTSW	12	88,335,203 (GRCm39)	missense	possibly damaging	0.77
R7745:Adck1	UTSW	12	88,423,570 (GRCm39)	missense	probably benign
R7759:Adck1	UTSW	12	88,368,887 (GRCm39)	missense	possibly damaging	0.65
R8092:Adck1	UTSW	12	88,427,831 (GRCm39)	missense	possibly damaging	0.68
R8336:Adck1	UTSW	12	88,335,249 (GRCm39)	missense	probably damaging	1.00
R9145:Adck1	UTSW	12	88,335,193 (GRCm39)	missense	probably benign	0.00
R9443:Adck1	UTSW	12	88,338,550 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGCTTGCTCCCACGTTTGTAAAG -3'
(R):5'- AAGTGTCCTTGTCCGTGTTGCC -3'

Sequencing Primer
(F):5'- CCCACGTTTGTAAAGGACTTG -3'
(R):5'- GACCTCTCCCTGATAGATGCATAG -3'

Posted On

2013-05-09