Mutagenetix > Incidental Mutation

Incidental Mutation 'R1865:Aatk'

208651

Institutional Source

Beutler Lab

Gene Symbol

Aatk

Ensembl Gene

ENSMUSG00000025375

Gene Name

apoptosis-associated tyrosine kinase

Synonyms

AATYK1

MMRRC Submission

039888-MU

Accession Numbers

Essential gene?

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

Stock #

R1865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119898139-119937993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119901048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1059 (T1059M)

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: T1116M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
AA Change: T1116M

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

probably benign
Transcript: ENSMUST00000103019
AA Change: T1059M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
AA Change: T1059M

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: T1059M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
AA Change: T1059M

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: ENSMUST00000142959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136386

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,797,094 (GRCm39)		noncoding transcript	Het
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Aqp9	A	C	9: 71,019,658 (GRCm39)	N267K	probably benign	Het
Arap2	A	G	5: 62,855,606 (GRCm39)	V610A	probably damaging	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Atn1	T	C	6: 124,722,259 (GRCm39)		probably benign	Het
Bcl7a	A	T	5: 123,494,032 (GRCm39)	D68V	probably damaging	Het
Cbl	A	C	9: 44,075,462 (GRCm39)	C394W	probably damaging	Het
Ccdc18	T	A	5: 108,341,668 (GRCm39)	D854E	probably benign	Het
Ccdc93	A	T	1: 121,426,956 (GRCm39)	E580V	probably damaging	Het
Cd180	T	A	13: 102,842,517 (GRCm39)	M521K	probably benign	Het
Cd300ld2	T	G	11: 114,903,444 (GRCm39)		probably benign	Het
Cdh10	T	C	15: 18,899,690 (GRCm39)	F6L	probably benign	Het
Cep78	A	G	19: 15,933,368 (GRCm39)	S737P	probably damaging	Het
Ces1f	G	T	8: 94,000,893 (GRCm39)		probably benign	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Col20a1	T	C	2: 180,657,606 (GRCm39)	L1250P	possibly damaging	Het
Crispld2	G	A	8: 120,737,306 (GRCm39)	G19E	probably benign	Het
Ctbp2	C	T	7: 132,592,283 (GRCm39)	A849T	probably benign	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cul4a	A	G	8: 13,192,589 (GRCm39)	T617A	possibly damaging	Het
Cyp2c68	G	T	19: 39,722,733 (GRCm39)	R272S	probably benign	Het
Cystm1	A	G	18: 36,499,729 (GRCm39)	Y48C	unknown	Het
Dach1	T	A	14: 98,077,645 (GRCm39)	R579S	possibly damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Dnah10	A	C	5: 124,909,590 (GRCm39)		probably null	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Eif4g1	A	G	16: 20,497,398 (GRCm39)	T202A	probably damaging	Het
Ephb4	A	T	5: 137,361,572 (GRCm39)	Q525L	possibly damaging	Het
F2	T	C	2: 91,465,539 (GRCm39)	D82G	probably benign	Het
Fam184b	G	T	5: 45,689,231 (GRCm39)	N868K	possibly damaging	Het
Fbxo25	A	G	8: 13,985,248 (GRCm39)	T314A	probably damaging	Het
Folh1	A	G	7: 86,375,114 (GRCm39)	M624T	possibly damaging	Het
Gabra5	G	A	7: 57,138,940 (GRCm39)	R71*	probably null	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Hmcn1	A	T	1: 150,479,563 (GRCm39)	C4634S	probably damaging	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Igfbp4	G	A	11: 98,932,512 (GRCm39)	G64R	probably damaging	Het
Itch	G	A	2: 155,010,666 (GRCm39)	V45I	probably damaging	Het
Itgb1	T	A	8: 129,446,938 (GRCm39)	F484L	probably benign	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Mast4	A	T	13: 102,930,625 (GRCm39)	V209D	probably damaging	Het
Matn3	T	A	12: 9,002,041 (GRCm39)	D84E	probably damaging	Het
Mcm7	T	A	5: 138,168,637 (GRCm39)	Q18L	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Megf11	A	G	9: 64,587,581 (GRCm39)	T460A	probably benign	Het
Mlh1	A	T	9: 111,086,092 (GRCm39)		probably benign	Het
Mylk	T	A	16: 34,732,600 (GRCm39)	S627T	probably benign	Het
Nat2	A	G	8: 67,954,204 (GRCm39)	M105V	possibly damaging	Het
Nav2	A	G	7: 49,197,943 (GRCm39)	T2A	possibly damaging	Het
Ndst3	A	T	3: 123,465,120 (GRCm39)	I284N	probably damaging	Het
Nfix	A	G	8: 85,498,904 (GRCm39)	V23A	possibly damaging	Het
Nr2f1	T	C	13: 78,338,045 (GRCm39)	Y200C	probably damaging	Het
Or14a258	T	C	7: 86,035,769 (GRCm39)	Y33C	probably damaging	Het
Or2g25	T	C	17: 37,970,754 (GRCm39)	I157V	possibly damaging	Het
Or6b13	G	A	7: 139,782,285 (GRCm39)	R133C	probably damaging	Het
Or8d1b	T	C	9: 38,887,200 (GRCm39)	V76A	probably benign	Het
Or8u8	T	G	2: 86,011,882 (GRCm39)	D191A	probably damaging	Het
Pcdhb21	T	C	18: 37,647,648 (GRCm39)	V259A	possibly damaging	Het
Phip	A	T	9: 82,827,845 (GRCm39)	V127E	probably damaging	Het
Pik3r5	A	G	11: 68,383,318 (GRCm39)	D379G	probably damaging	Het
Pkdrej	A	T	15: 85,704,525 (GRCm39)	C470*	probably null	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,943,508 (GRCm39)	V1248I	probably damaging	Het
Pou3f2	A	T	4: 22,486,917 (GRCm39)	C405*	probably null	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Rest	T	A	5: 77,428,745 (GRCm39)	V388E	probably damaging	Het
Rnft2	A	T	5: 118,370,540 (GRCm39)	W220R	probably damaging	Het
Rnpc3	A	T	3: 113,415,559 (GRCm39)	Y107*	probably null	Het
Senp8	G	A	9: 59,644,835 (GRCm39)	S94F	probably damaging	Het
Ski	A	G	4: 155,306,698 (GRCm39)	S94P	possibly damaging	Het
Skint8	A	G	4: 111,794,192 (GRCm39)	D194G	probably damaging	Het
Slc35c2	C	A	2: 165,120,303 (GRCm39)	R232L	probably benign	Het
Slc43a3	T	A	2: 84,777,245 (GRCm39)	V198D	possibly damaging	Het
Slc8b1	A	T	5: 120,667,717 (GRCm39)	N467I	probably damaging	Het
Srbd1	A	G	17: 86,422,732 (GRCm39)		probably benign	Het
Sstr3	T	C	15: 78,424,168 (GRCm39)	H193R	probably damaging	Het
Sv2c	A	C	13: 96,113,283 (GRCm39)	S555R	probably benign	Het
Tagln3	A	G	16: 45,532,013 (GRCm39)	V173A	possibly damaging	Het
Tctn2	C	A	5: 124,757,143 (GRCm39)		noncoding transcript	Het
Tfap2a	G	T	13: 40,881,884 (GRCm39)	H167Q	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem30c	A	G	16: 57,090,352 (GRCm39)		probably benign	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Tnxb	C	T	17: 34,922,431 (GRCm39)	Q2415*	probably null	Het
Ttyh1	T	C	7: 4,122,730 (GRCm39)	L26P	probably damaging	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Vdac3	A	T	8: 23,070,553 (GRCm39)	Y119*	probably null	Het
Vmn2r58	T	C	7: 41,486,682 (GRCm39)	I738V	possibly damaging	Het
Zfp704	A	G	3: 9,539,551 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,880,729 (GRCm39)	R352W	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
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

Predicted Primers

PCR Primer
(F):5'- TAGATTTCGGGCACTCTGGC -3'
(R):5'- CTTTTCCCAGGTCTGCAGTG -3'

Sequencing Primer
(F):5'- TAGCACCGGAGCTCCTCATC -3'
(R):5'- TCTGCAGTGTCCAGCGAG -3'

Posted On

2014-06-30