Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Aatk'

233056

Institutional Source

Beutler Lab

Gene Symbol

Aatk

Ensembl Gene

ENSMUSG00000025375

Gene Name

apoptosis-associated tyrosine kinase

Synonyms

AATYK1

MMRRC Submission

040119-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119898139-119937993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119900562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1195 (T1195A)

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

probably benign
Transcript: ENSMUST00000064307
AA Change: T1252A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: T1252A

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

probably benign
Transcript: ENSMUST00000103019
AA Change: T1195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: T1195A

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: ENSMUST00000103020
AA Change: T1195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: T1195A

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: ENSMUST00000132575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150730

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,283,930 (GRCm39)	N2547K	probably benign	Het
Abca16	A	C	7: 120,139,868 (GRCm39)	E1510A	probably damaging	Het
Adam5	A	G	8: 25,234,161 (GRCm39)		probably benign	Het
Akna	G	A	4: 63,313,397 (GRCm39)	P242L	probably benign	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,767,361 (GRCm39)	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Ark2n	T	C	18: 77,762,168 (GRCm39)	D48G	possibly damaging	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Atxn1l	C	T	8: 110,459,240 (GRCm39)	A341T	probably benign	Het
Birc7	C	A	2: 180,572,642 (GRCm39)	Q138K	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Chad	C	T	11: 94,459,052 (GRCm39)	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534 (GRCm39)		probably null	Het
Dnah17	C	T	11: 118,010,628 (GRCm39)	C230Y	probably benign	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Dusp11	T	C	6: 85,935,651 (GRCm39)	D74G	probably damaging	Het
Duxf4	T	C	10: 58,072,073 (GRCm39)	D47G	possibly damaging	Het
Eif3m	T	C	2: 104,837,141 (GRCm39)	T61A	probably damaging	Het
Esyt1	T	A	10: 128,357,973 (GRCm39)	D212V	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
F13a1	A	T	13: 37,172,831 (GRCm39)	I183N	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,503,423 (GRCm39)	N68K	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm1527	T	C	3: 28,972,098 (GRCm39)	L405P	probably benign	Het
Heatr6	T	A	11: 83,648,281 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,835,576 (GRCm39)		probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,194,120 (GRCm39)	R60Q	probably benign	Het
Katnal2	T	C	18: 77,067,787 (GRCm39)	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,480,701 (GRCm39)	L755F	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
Kifc3	A	G	8: 95,835,341 (GRCm39)	Y178H	probably damaging	Het
Krit1	A	T	5: 3,872,108 (GRCm39)	R378*	probably null	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lama3	C	A	18: 12,535,906 (GRCm39)	T204N	possibly damaging	Het
Lama5	A	G	2: 179,828,678 (GRCm39)	C2090R	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mipep	T	C	14: 61,024,829 (GRCm39)	V90A	probably damaging	Het
Myo3a	A	T	2: 22,250,342 (GRCm39)	I70F	probably damaging	Het
Napa	A	G	7: 15,848,134 (GRCm39)	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,451,489 (GRCm39)	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,409,288 (GRCm39)	V13E	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nptx2	G	C	5: 144,492,216 (GRCm39)	G331A	probably damaging	Het
Or2q1	A	G	6: 42,794,431 (GRCm39)	T9A	possibly damaging	Het
Or4c122	T	C	2: 89,079,874 (GRCm39)	I55V	probably damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Or7g34	T	C	9: 19,478,618 (GRCm39)	T18A	probably benign	Het
Parp14	T	C	16: 35,678,904 (GRCm39)	T355A	probably benign	Het
Pcdh12	T	C	18: 38,417,039 (GRCm39)	T29A	probably damaging	Het
Pced1b	T	A	15: 97,282,505 (GRCm39)	C181*	probably null	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,537,737 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,597,972 (GRCm39)	K178N	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,337,982 (GRCm39)	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rassf9	A	G	10: 102,380,806 (GRCm39)	T63A	probably benign	Het
Rdh11	G	T	12: 79,222,996 (GRCm39)	Q292K	probably benign	Het
Rere	C	A	4: 150,697,018 (GRCm39)		probably benign	Het
Rgs18	G	T	1: 144,629,629 (GRCm39)	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,318,839 (GRCm39)	N1099S	probably benign	Het
Ros1	T	C	10: 52,004,651 (GRCm39)	I969V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rrp12	C	T	19: 41,879,533 (GRCm39)	V174I	probably benign	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sbk3	A	G	7: 4,970,415 (GRCm39)	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sec23ip	G	A	7: 128,364,185 (GRCm39)	V488I	probably benign	Het
Serpine3	T	C	14: 62,910,459 (GRCm39)	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,331,896 (GRCm39)	T512A	possibly damaging	Het
Slc49a4	T	C	16: 35,518,309 (GRCm39)	D468G	probably benign	Het
Smpd4	T	C	16: 17,444,729 (GRCm39)	Y118H	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,241,534 (GRCm39)	V120I	probably benign	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Utp20	T	C	10: 88,621,865 (GRCm39)	D1136G	probably benign	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Yars1	T	G	4: 129,101,716 (GRCm39)		probably null	Het
Zfp472	A	G	17: 33,196,988 (GRCm39)	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	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
IGL01758:Aatk	APN	11	119,901,645 (GRCm39)	missense	possibly damaging	0.86
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
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

Predicted Primers

PCR Primer
(F):5'- GAATCCAGACCTTCCGTGACAG -3'
(R):5'- ATCTACGCAGCCTGCTGAAG -3'

Sequencing Primer
(F):5'- AGACCTTCCGTGACAGTGATGTC -3'
(R):5'- TGCTGAAGATGCCCAGC -3'

Posted On

2014-09-18