Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01758:Aatk'

153464

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aatk

Ensembl Gene

ENSMUSG00000025375

Gene Name

apoptosis-associated tyrosine kinase

Synonyms

AATYK1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

119898139-119937993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119901645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 860 (D860G)

Ref Sequence

ENSEMBL: ENSMUSP00000099309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026436] [ENSMUST00000064307] [ENSMUST00000103019] [ENSMUST00000103020] [ENSMUST00000106233]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026436

SMART Domains

Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372

Domain	Start	End	E-Value	Type
Pfam:IMD	17	237	6e-101	PFAM
PDB:4JS0\|B	261	292	2e-13	PDB
low complexity region	321	335	N/A	INTRINSIC
SH3	378	437	9.77e-11	SMART
low complexity region	459	471	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064307
AA Change: D917G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: D917G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	30	49	N/A	INTRINSIC
Pfam:Pkinase_Tyr	135	405	3.9e-63	PFAM
Pfam:Pkinase	136	404	2.6e-33	PFAM
low complexity region	425	457	N/A	INTRINSIC
low complexity region	502	514	N/A	INTRINSIC
low complexity region	615	624	N/A	INTRINSIC
low complexity region	647	666	N/A	INTRINSIC
low complexity region	684	695	N/A	INTRINSIC
low complexity region	808	819	N/A	INTRINSIC
low complexity region	913	927	N/A	INTRINSIC
low complexity region	934	943	N/A	INTRINSIC
low complexity region	985	1004	N/A	INTRINSIC
low complexity region	1063	1082	N/A	INTRINSIC
low complexity region	1085	1096	N/A	INTRINSIC
low complexity region	1160	1174	N/A	INTRINSIC
low complexity region	1179	1204	N/A	INTRINSIC
low complexity region	1319	1333	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083666

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103019
AA Change: D860G

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: D860G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	78	347	3e-36	PFAM
Pfam:Pkinase_Tyr	78	348	1.9e-62	PFAM
low complexity region	368	400	N/A	INTRINSIC
low complexity region	445	457	N/A	INTRINSIC
low complexity region	558	567	N/A	INTRINSIC
low complexity region	590	609	N/A	INTRINSIC
low complexity region	627	638	N/A	INTRINSIC
low complexity region	751	762	N/A	INTRINSIC
low complexity region	856	870	N/A	INTRINSIC
low complexity region	877	886	N/A	INTRINSIC
low complexity region	928	947	N/A	INTRINSIC
low complexity region	1006	1025	N/A	INTRINSIC
low complexity region	1028	1039	N/A	INTRINSIC
low complexity region	1103	1117	N/A	INTRINSIC
low complexity region	1122	1147	N/A	INTRINSIC
low complexity region	1262	1276	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103020
AA Change: D860G

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: D860G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	78	347	3e-36	PFAM
Pfam:Pkinase_Tyr	78	348	1.9e-62	PFAM
low complexity region	368	400	N/A	INTRINSIC
low complexity region	445	457	N/A	INTRINSIC
low complexity region	558	567	N/A	INTRINSIC
low complexity region	590	609	N/A	INTRINSIC
low complexity region	627	638	N/A	INTRINSIC
low complexity region	751	762	N/A	INTRINSIC
low complexity region	856	870	N/A	INTRINSIC
low complexity region	877	886	N/A	INTRINSIC
low complexity region	928	947	N/A	INTRINSIC
low complexity region	1006	1025	N/A	INTRINSIC
low complexity region	1028	1039	N/A	INTRINSIC
low complexity region	1103	1117	N/A	INTRINSIC
low complexity region	1122	1147	N/A	INTRINSIC
low complexity region	1262	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106233

SMART Domains

Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372

Domain	Start	End	E-Value	Type
Pfam:IMD	17	237	1.6e-98	PFAM
PDB:4JS0\|B	261	292	8e-14	PDB
low complexity region	321	335	N/A	INTRINSIC
SH3	378	437	9.77e-11	SMART
low complexity region	459	471	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198674

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	C	4: 152,302,250 (GRCm39)	C121R	probably damaging	Het
Adam19	A	T	11: 46,003,751 (GRCm39)	H193L	probably benign	Het
AI661453	T	A	17: 47,777,548 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,983,953 (GRCm39)		probably benign	Het
Brd4	T	C	17: 32,431,803 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,586,048 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,269 (GRCm39)	Q713R	probably benign	Het
Cfap52	A	T	11: 67,844,406 (GRCm39)	L103Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,265,846 (GRCm39)	T475S	probably damaging	Het
Dync2i1	G	A	12: 116,182,418 (GRCm39)	P728L	possibly damaging	Het
Fat2	A	T	11: 55,187,035 (GRCm39)	D1270E	probably damaging	Het
Hfm1	T	C	5: 107,052,659 (GRCm39)	K275E	probably damaging	Het
Ift172	T	C	5: 31,438,058 (GRCm39)	D426G	probably benign	Het
Mrc1	T	C	2: 14,243,059 (GRCm39)	S62P	probably damaging	Het
Or13f5	G	T	4: 52,825,468 (GRCm39)	E24*	probably null	Het
Or8b50	T	A	9: 38,518,589 (GRCm39)	I276K	probably damaging	Het
Ptgs2	A	T	1: 149,977,740 (GRCm39)		probably null	Het
Rxfp1	T	A	3: 79,559,523 (GRCm39)	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,187,418 (GRCm39)		probably benign	Het
Serpinb13	T	G	1: 106,928,484 (GRCm39)	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,361,824 (GRCm39)	S80R	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Stat1	A	G	1: 52,176,080 (GRCm39)	E195G	probably damaging	Het
Tbx5	T	A	5: 119,983,023 (GRCm39)		probably benign	Het
Tmem165	A	G	5: 76,352,010 (GRCm39)	T164A	probably damaging	Het
Trim66	A	T	7: 109,085,252 (GRCm39)		probably null	Het
Trip10	T	A	17: 57,568,409 (GRCm39)	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,372,275 (GRCm39)	C28*	probably null	Het
Zbtb8a	C	T	4: 129,251,640 (GRCm39)	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,956,508 (GRCm39)	F1705S	probably damaging	Het

Other mutations in Aatk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Aatk	APN	11	119,901,012 (GRCm39)	missense	probably benign	0.02
IGL00953:Aatk	APN	11	119,902,047 (GRCm39)	missense	probably benign	0.00
IGL01019:Aatk	APN	11	119,903,101 (GRCm39)	missense	probably benign
IGL02377:Aatk	APN	11	119,937,689 (GRCm39)	utr 5 prime	probably benign
IGL02902:Aatk	APN	11	119,902,603 (GRCm39)	missense	probably benign	0.00
IGL03067:Aatk	APN	11	119,900,909 (GRCm39)	missense	probably benign	0.00
IGL03116:Aatk	APN	11	119,907,577 (GRCm39)	missense	probably benign	0.14
IGL03279:Aatk	APN	11	119,904,504 (GRCm39)	missense	probably damaging	1.00
IGL03405:Aatk	APN	11	119,907,229 (GRCm39)	missense	probably benign	0.02
PIT4366001:Aatk	UTSW	11	119,901,786 (GRCm39)	missense	possibly damaging	0.55
PIT4802001:Aatk	UTSW	11	119,902,172 (GRCm39)	missense	probably benign
R0101:Aatk	UTSW	11	119,901,739 (GRCm39)	missense	probably benign	0.19
R0497:Aatk	UTSW	11	119,909,606 (GRCm39)	missense	probably damaging	0.99
R0535:Aatk	UTSW	11	119,901,019 (GRCm39)	missense	probably benign	0.00
R0638:Aatk	UTSW	11	119,900,748 (GRCm39)	missense	probably damaging	1.00
R0939:Aatk	UTSW	11	119,902,969 (GRCm39)	missense	probably damaging	0.99
R1475:Aatk	UTSW	11	119,901,714 (GRCm39)	missense	probably damaging	0.96
R1840:Aatk	UTSW	11	119,904,558 (GRCm39)	missense	probably damaging	1.00
R1865:Aatk	UTSW	11	119,901,048 (GRCm39)	missense	probably benign	0.00
R1982:Aatk	UTSW	11	119,904,340 (GRCm39)	missense	probably damaging	1.00
R2027:Aatk	UTSW	11	119,900,143 (GRCm39)	missense	probably damaging	1.00
R2115:Aatk	UTSW	11	119,900,562 (GRCm39)	missense	probably benign
R2220:Aatk	UTSW	11	119,903,003 (GRCm39)	missense	probably damaging	1.00
R2264:Aatk	UTSW	11	119,901,100 (GRCm39)	missense	probably damaging	1.00
R2504:Aatk	UTSW	11	119,909,681 (GRCm39)	missense	probably benign	0.00
R3872:Aatk	UTSW	11	119,901,045 (GRCm39)	missense	possibly damaging	0.71
R4551:Aatk	UTSW	11	119,902,395 (GRCm39)	missense	probably benign	0.03
R4657:Aatk	UTSW	11	119,904,304 (GRCm39)	missense	possibly damaging	0.69
R4744:Aatk	UTSW	11	119,906,948 (GRCm39)	missense	possibly damaging	0.64
R4924:Aatk	UTSW	11	119,902,351 (GRCm39)	missense	probably damaging	1.00
R5063:Aatk	UTSW	11	119,901,315 (GRCm39)	missense	probably benign	0.07
R5223:Aatk	UTSW	11	119,904,278 (GRCm39)	missense	possibly damaging	0.95
R5243:Aatk	UTSW	11	119,907,594 (GRCm39)	missense	probably damaging	1.00
R5376:Aatk	UTSW	11	119,902,860 (GRCm39)	missense	probably damaging	0.98
R5442:Aatk	UTSW	11	119,909,594 (GRCm39)	missense	probably benign	0.02
R5550:Aatk	UTSW	11	119,900,129 (GRCm39)	missense	probably benign	0.42
R5678:Aatk	UTSW	11	119,900,980 (GRCm39)	missense	probably benign	0.00
R5932:Aatk	UTSW	11	119,912,359 (GRCm39)	missense	probably damaging	1.00
R6026:Aatk	UTSW	11	119,903,190 (GRCm39)	missense	possibly damaging	0.65
R6129:Aatk	UTSW	11	119,912,359 (GRCm39)	missense	probably damaging	1.00
R6409:Aatk	UTSW	11	119,902,558 (GRCm39)	missense	probably benign	0.01
R6477:Aatk	UTSW	11	119,909,696 (GRCm39)	missense	probably benign	0.00
R6478:Aatk	UTSW	11	119,901,817 (GRCm39)	missense	probably benign	0.00
R6749:Aatk	UTSW	11	119,901,600 (GRCm39)	missense	possibly damaging	0.58
R6753:Aatk	UTSW	11	119,900,977 (GRCm39)	missense	probably benign
R6787:Aatk	UTSW	11	119,901,508 (GRCm39)	missense	probably damaging	1.00
R6852:Aatk	UTSW	11	119,901,294 (GRCm39)	missense	probably benign	0.10
R7114:Aatk	UTSW	11	119,900,445 (GRCm39)	missense	probably benign
R7557:Aatk	UTSW	11	119,900,256 (GRCm39)	missense	possibly damaging	0.73
R7818:Aatk	UTSW	11	119,912,281 (GRCm39)	missense	probably benign
R7954:Aatk	UTSW	11	119,903,169 (GRCm39)	missense	possibly damaging	0.51
R8176:Aatk	UTSW	11	119,907,241 (GRCm39)	missense	probably damaging	0.99
R8420:Aatk	UTSW	11	119,937,746 (GRCm39)	missense	unknown
R8963:Aatk	UTSW	11	119,902,963 (GRCm39)	missense	probably damaging	1.00
R9090:Aatk	UTSW	11	119,901,940 (GRCm39)	missense	probably damaging	0.98
R9167:Aatk	UTSW	11	119,901,952 (GRCm39)	missense	possibly damaging	0.90
R9271:Aatk	UTSW	11	119,901,940 (GRCm39)	missense	probably damaging	0.98
R9357:Aatk	UTSW	11	119,901,696 (GRCm39)	missense	probably benign	0.01
R9373:Aatk	UTSW	11	119,906,343 (GRCm39)	missense	possibly damaging	0.95
R9420:Aatk	UTSW	11	119,912,277 (GRCm39)	missense	probably benign	0.01
R9423:Aatk	UTSW	11	119,901,520 (GRCm39)	missense	probably damaging	1.00
R9476:Aatk	UTSW	11	119,901,094 (GRCm39)	missense	probably benign	0.01
R9510:Aatk	UTSW	11	119,901,094 (GRCm39)	missense	probably benign	0.01
R9519:Aatk	UTSW	11	119,912,309 (GRCm39)	start gained	probably benign
R9605:Aatk	UTSW	11	119,902,209 (GRCm39)	missense	possibly damaging	0.88
R9649:Aatk	UTSW	11	119,901,733 (GRCm39)	missense	probably damaging	1.00
R9766:Aatk	UTSW	11	119,902,565 (GRCm39)	missense	probably benign	0.00
X0064:Aatk	UTSW	11	119,902,002 (GRCm39)	splice site	probably null

Posted On

2014-02-04