Mutagenetix > Incidental Mutation

Incidental Mutation 'R5550:Aatk'

435093

Institutional Source

Beutler Lab

Gene Symbol

Aatk

Ensembl Gene

ENSMUSG00000025375

Gene Name

apoptosis-associated tyrosine kinase

Synonyms

AATYK1

MMRRC Submission

043107-MU

Accession Numbers

Essential gene?

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

Stock #

R5550 (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 119900129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1295 (I1295M)

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: I1352M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: I1352M

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: I1295M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: I1295M

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: I1295M

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: I1295M

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,908,727 (GRCm39)		probably null	Het
Adig	A	T	2: 158,349,880 (GRCm39)		probably benign	Het
Atp5po	C	A	16: 91,727,292 (GRCm39)	V15F	probably damaging	Het
Bdh2	A	G	3: 134,994,074 (GRCm39)	K52R	probably benign	Het
Bud23	A	G	5: 135,092,744 (GRCm39)	V27A	probably benign	Het
Ces2b	A	G	8: 105,565,069 (GRCm39)	D551G	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Dio3	A	T	12: 110,246,560 (GRCm39)	T299S	probably benign	Het
Dnah1	T	A	14: 31,038,665 (GRCm39)	I139F	probably benign	Het
Dpy30	A	G	17: 74,622,920 (GRCm39)	Y21H	probably benign	Het
Gbp4	C	T	5: 105,269,911 (GRCm39)	V306M	probably damaging	Het
Gcat	G	A	15: 78,926,411 (GRCm39)	V94M	probably benign	Het
H2bc27	A	G	11: 58,840,146 (GRCm39)	*127W	probably null	Het
Henmt1	A	G	3: 108,861,184 (GRCm39)	Y69C	probably damaging	Het
Kank4	A	G	4: 98,659,678 (GRCm39)	F800S	probably benign	Het
Lrrc37a	T	A	11: 103,389,003 (GRCm39)	T2141S	unknown	Het
Map3k4	G	A	17: 12,462,445 (GRCm39)	R1143*	probably null	Het
Mdc1	A	G	17: 36,156,776 (GRCm39)	D61G	possibly damaging	Het
Nfkbid	T	A	7: 30,125,426 (GRCm39)	L303Q	probably damaging	Het
Or2ag15	T	C	7: 106,340,340 (GRCm39)	N267S	probably benign	Het
Or6c75	A	G	10: 129,337,652 (GRCm39)	N300D	probably damaging	Het
P2ry1	T	C	3: 60,911,232 (GRCm39)	C124R	probably damaging	Het
Sntg1	C	T	1: 8,695,008 (GRCm39)	C153Y	probably damaging	Het
Speg	A	T	1: 75,405,744 (GRCm39)	T2983S	probably damaging	Het
Tbc1d2	G	A	4: 46,646,138 (GRCm39)	P163S	probably benign	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tnks2	T	A	19: 36,839,746 (GRCm39)	V78E	probably damaging	Het
Trip12	A	G	1: 84,738,820 (GRCm39)	C709R	probably damaging	Het
Xpo5	T	A	17: 46,545,418 (GRCm39)	V828D	possibly 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
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
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'- GAACATAATGTCTGCCCAGAGG -3'
(R):5'- CGCCATATCATCTTAAGTGGGG -3'

Sequencing Primer
(F):5'- GTTAACAGGGCAATGTCC -3'
(R):5'- ACAGAAGTGACTTTCTGGTCCGAC -3'

Posted On

2016-10-24