Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01366:Adck5'

75929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adck5

Ensembl Gene

ENSMUSG00000022550

Gene Name

aarF domain containing kinase 5

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01366

Quality Score

Status

Chromosome

Chromosomal Location

76460559-76480012 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to C at 76479816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 568 (*568C)

Ref Sequence

ENSEMBL: ENSMUSP00000124666 (fasta)

Gene Model

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

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: ENSMUST00000160410

Predicted Effect

probably null
Transcript: ENSMUST00000160784
AA Change: *568C

SMART Domains

Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: *568C

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: ENSMUST00000162503
AA Change: E572A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: E572A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161311

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: ENSMUST00000229007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229437

Predicted Effect

probably benign
Transcript: ENSMUST00000229287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229269

Predicted Effect

probably benign
Transcript: ENSMUST00000231042

Predicted Effect

probably benign
Transcript: ENSMUST00000230157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229982

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,868,937 (GRCm39)		probably benign	Het
Adamts2	T	C	11: 50,687,295 (GRCm39)	Y1041H	probably damaging	Het
AK157302	T	A	13: 21,679,471 (GRCm39)		probably benign	Het
Bmpr2	G	T	1: 59,852,836 (GRCm39)	G56W	probably damaging	Het
Capn11	A	C	17: 45,964,126 (GRCm39)	I146S	probably damaging	Het
Ccdc162	A	T	10: 41,456,302 (GRCm39)	D1613E	possibly damaging	Het
Ccdc167	T	C	17: 29,924,286 (GRCm39)	E50G	probably damaging	Het
Col5a2	G	T	1: 45,431,048 (GRCm39)	P864Q	possibly damaging	Het
Col7a1	C	T	9: 108,806,187 (GRCm39)		probably benign	Het
Crebbp	T	A	16: 3,944,370 (GRCm39)	H556L	probably damaging	Het
Dcpp1	T	A	17: 24,101,710 (GRCm39)	I153N	possibly damaging	Het
Dgke	C	T	11: 88,946,212 (GRCm39)	R196H	probably benign	Het
Efr3a	T	A	15: 65,722,999 (GRCm39)	I459K	probably benign	Het
Espl1	T	A	15: 102,228,271 (GRCm39)	C1682S	probably benign	Het
Exosc3	C	T	4: 45,317,747 (GRCm39)	R185H	probably damaging	Het
Fgd6	T	C	10: 93,879,338 (GRCm39)	V64A	possibly damaging	Het
Fhip2b	G	A	14: 70,822,813 (GRCm39)	R688C	probably damaging	Het
Gata3	A	G	2: 9,882,276 (GRCm39)	L42P	probably damaging	Het
Ggta1	C	A	2: 35,292,462 (GRCm39)	E282*	probably null	Het
Ghr	T	C	15: 3,349,669 (GRCm39)	D503G	probably damaging	Het
Gls	C	T	1: 52,207,558 (GRCm39)	G602D	probably damaging	Het
Gm2058	A	G	7: 39,238,658 (GRCm39)		noncoding transcript	Het
Grb7	T	C	11: 98,343,100 (GRCm39)		probably benign	Het
Ifngr1	A	T	10: 19,485,348 (GRCm39)	H449L	probably damaging	Het
Ighg2b	T	G	12: 113,270,656 (GRCm39)	D158A	possibly damaging	Het
Nphs2	T	C	1: 156,138,605 (GRCm39)	V83A	probably benign	Het
Parp6	T	A	9: 59,543,996 (GRCm39)	M390K	possibly damaging	Het
Pask	T	C	1: 93,238,574 (GRCm39)	K1304E	probably benign	Het
Scai	A	G	2: 38,996,973 (GRCm39)	S274P	probably benign	Het
Sik2	A	G	9: 50,818,763 (GRCm39)	S404P	probably damaging	Het
Slc7a8	A	T	14: 55,018,645 (GRCm39)	I47N	probably damaging	Het
Tas2r113	A	T	6: 132,870,760 (GRCm39)	I263F	probably benign	Het
Tdrd1	T	A	19: 56,843,734 (GRCm39)	D737E	probably benign	Het
Trio	T	C	15: 27,732,954 (GRCm39)	T2976A	possibly damaging	Het
Ttc28	T	C	5: 111,233,037 (GRCm39)		probably null	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	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
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
R6530:Adck5	UTSW	15	76,478,047 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-10-07