Mutagenetix > Incidental Mutation

Incidental Mutation 'R8092:Adck1'

629950

Institutional Source

Beutler Lab

Gene Symbol

Adck1

Ensembl Gene

ENSMUSG00000021044

Gene Name

aarF domain containing kinase 1

Synonyms

2610005A10Rik

MMRRC Submission

Accession Numbers

Genbank: NM_028105; MGI:1919363

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88360554-88461724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88461061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 483 (S483P)

Ref Sequence

ENSEMBL: ENSMUSP00000098724 (fasta)

Gene Model

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

AlphaFold

Q9D0L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101165
AA Change: S483P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: S483P

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: S483P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: S483P

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

possibly damaging
Transcript: ENSMUST00000222695
AA Change: S483P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agr3	T	A	12: 35,947,594		probably null	Het
Anxa4	T	C	6: 86,741,891	D282G	probably damaging	Het
Aplp2	A	C	9: 31,163,344		probably null	Het
Arfgef2	G	A	2: 166,859,834	V714M	probably damaging	Het
Cep295	A	T	9: 15,332,982	F1393I	probably benign	Het
Cfap206	G	A	4: 34,728,897	P3S	possibly damaging	Het
Chd5	T	A	4: 152,378,804	D1410E	probably damaging	Het
Chd8	T	C	14: 52,217,727	Y1101C	probably damaging	Het
Chtf8	A	G	8: 106,886,306	V121A	possibly damaging	Het
Diexf	G	A	1: 193,120,363	L349F	probably benign	Het
Dnajc3	A	T	14: 118,970,582		probably null	Het
Dpys	C	T	15: 39,846,614	D140N	probably benign	Het
Dsg1c	A	G	18: 20,281,972	Y642C	probably damaging	Het
Eif2ak4	G	A	2: 118,442,032	V901I	probably damaging	Het
Gm45861	T	C	8: 27,567,795	M1127T	unknown	Het
Gnpnat1	A	G	14: 45,380,931		probably null	Het
Hsd3b6	T	A	3: 98,806,140	D281V	possibly damaging	Het
Kng2	T	A	16: 22,987,922	Q509L	probably benign	Het
Lipo2	A	T	19: 33,749,480	D52E	probably benign	Het
Ly6g6c	A	G	17: 35,068,891	Y27C	probably damaging	Het
Mcc	G	A	18: 44,759,232	T105I	probably benign	Het
Mettl11b	A	G	1: 163,717,250	Y55H	probably damaging	Het
Neurl4	A	G	11: 69,911,065	K1279E	probably benign	Het
Ntn4	A	C	10: 93,741,056	K529Q	probably damaging	Het
Olfr1308	C	A	2: 111,960,307	M255I	probably benign	Het
P2ry14	C	T	3: 59,115,446	V198M	probably damaging	Het
Pclo	T	A	5: 14,677,546	D2139E	unknown	Het
Plxnb1	T	A	9: 109,100,505	V143E	probably damaging	Het
Prune2	G	T	19: 17,119,993	D954Y	probably damaging	Het
Qrsl1	G	A	10: 43,884,753	P278L	probably damaging	Het
Rnf17	C	T	14: 56,487,022	R1108C	probably benign	Het
Sipa1l2	T	C	8: 125,419,168	S1716G	probably benign	Het
Slfn4	A	T	11: 83,189,005	H507L	probably benign	Het
Snx18	T	C	13: 113,617,149	E416G	probably damaging	Het
Srp9	T	C	1: 182,131,436	V81A	probably benign	Het
Tex101	G	A	7: 24,670,353	T62M	probably damaging	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Zbtb42	G	T	12: 112,679,841	C150F	probably damaging	Het

Other mutations in Adck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Adck1	APN	12	88368422	missense	probably benign	0.00
IGL00822:Adck1	APN	12	88455516	missense	probably damaging	0.99
IGL01370:Adck1	APN	12	88456733	splice site	probably benign
IGL01480:Adck1	APN	12	88456865	nonsense	probably null
IGL01994:Adck1	APN	12	88431156	missense	possibly damaging	0.50
IGL02089:Adck1	APN	12	88446710	missense	probably damaging	0.96
IGL03058:Adck1	APN	12	88459130	missense	probably benign
IGL03196:Adck1	APN	12	88431115	missense	probably damaging	1.00
IGL03307:Adck1	APN	12	88459053	missense	possibly damaging	0.94
full-figured	UTSW	12	88441117	missense	possibly damaging	0.63
0152:Adck1	UTSW	12	88431151	missense	probably benign	0.03
R0107:Adck1	UTSW	12	88446656	missense	possibly damaging	0.62
R0164:Adck1	UTSW	12	88455510	missense	probably damaging	0.99
R0164:Adck1	UTSW	12	88455510	missense	probably damaging	0.99
R0179:Adck1	UTSW	12	88459172	missense	possibly damaging	0.91
R0505:Adck1	UTSW	12	88371691	splice site	probably benign
R0561:Adck1	UTSW	12	88368434	missense	possibly damaging	0.49
R0831:Adck1	UTSW	12	88368348	start codon destroyed	probably null	1.00
R1005:Adck1	UTSW	12	88402102	missense	probably damaging	0.98
R1524:Adck1	UTSW	12	88402084	missense	probably damaging	1.00
R2016:Adck1	UTSW	12	88461092	missense	probably damaging	1.00
R4438:Adck1	UTSW	12	88431150	nonsense	probably null
R4745:Adck1	UTSW	12	88402179	splice site	probably null
R4827:Adck1	UTSW	12	88446719	missense	probably benign	0.06
R4859:Adck1	UTSW	12	88441095	missense	probably benign	0.02
R4885:Adck1	UTSW	12	88441095	missense	probably benign	0.02
R4921:Adck1	UTSW	12	88441138	missense	probably benign	0.10
R5383:Adck1	UTSW	12	88455603	missense	probably benign	0.04
R5958:Adck1	UTSW	12	88459052	missense	probably benign	0.33
R6028:Adck1	UTSW	12	88402132	missense	probably benign
R6199:Adck1	UTSW	12	88441117	missense	possibly damaging	0.63
R6317:Adck1	UTSW	12	88402151	missense	probably damaging	1.00
R6616:Adck1	UTSW	12	88461188	missense	unknown
R6715:Adck1	UTSW	12	88459080	missense	probably damaging	1.00
R6915:Adck1	UTSW	12	88455620	missense	probably damaging	1.00
R7295:Adck1	UTSW	12	88431045	missense	probably damaging	1.00
R7387:Adck1	UTSW	12	88461052	missense	probably benign
R7520:Adck1	UTSW	12	88459205	critical splice donor site	probably null
R7562:Adck1	UTSW	12	88368433	missense	possibly damaging	0.77
R7745:Adck1	UTSW	12	88456800	missense	probably benign
R7759:Adck1	UTSW	12	88402117	missense	possibly damaging	0.65
R8336:Adck1	UTSW	12	88368479	missense	probably damaging	1.00
R9145:Adck1	UTSW	12	88368423	missense	probably benign	0.00
R9443:Adck1	UTSW	12	88371780	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTGAGTCACTCTGGCACC -3'
(R):5'- ATGAGGGTGCCATGGATGAC -3'

Sequencing Primer
(F):5'- ACCCAGTGGTCTCCAGGATC -3'
(R):5'- TGGATGACCACTCTGGGAC -3'

Posted On

2020-06-30