Mutagenetix > Incidental Mutations

Incidental Mutation 'R1033:Dapk1'

95324

Institutional Source

Beutler Lab

Gene Symbol

Dapk1

Ensembl Gene

ENSMUSG00000021559

Gene Name

death associated protein kinase 1

Synonyms

DAP-Kinase, 2310039H24Rik, D13Ucla1, 2810425C21Rik

MMRRC Submission

039132-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60601947-60763191 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 60721865 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044083] [ENSMUST00000044083] [ENSMUST00000077453] [ENSMUST00000077453] [ENSMUST00000226059]

Predicted Effect

probably null
Transcript: ENSMUST00000044083

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559

Domain	Start	End	E-Value	Type
S_TKc	13	275	6.35e-99	SMART
low complexity region	295	306	N/A	INTRINSIC
ANK	378	407	5.09e-2	SMART
ANK	411	440	6.61e-1	SMART
ANK	444	473	7.64e-6	SMART
ANK	477	506	2.13e-4	SMART
ANK	510	539	1.31e-4	SMART
ANK	543	572	7.83e-3	SMART
ANK	576	605	8.52e-4	SMART
ANK	609	638	1.85e-4	SMART
ANK	642	671	7.29e2	SMART
low complexity region	711	725	N/A	INTRINSIC
DEATH	1299	1396	2.65e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000044083

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559

Domain	Start	End	E-Value	Type
S_TKc	13	275	6.35e-99	SMART
low complexity region	295	306	N/A	INTRINSIC
ANK	378	407	5.09e-2	SMART
ANK	411	440	6.61e-1	SMART
ANK	444	473	7.64e-6	SMART
ANK	477	506	2.13e-4	SMART
ANK	510	539	1.31e-4	SMART
ANK	543	572	7.83e-3	SMART
ANK	576	605	8.52e-4	SMART
ANK	609	638	1.85e-4	SMART
ANK	642	671	7.29e2	SMART
low complexity region	711	725	N/A	INTRINSIC
DEATH	1299	1396	2.65e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000077453

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559

Domain	Start	End	E-Value	Type
S_TKc	13	275	6.35e-99	SMART
low complexity region	295	306	N/A	INTRINSIC
ANK	378	407	5.09e-2	SMART
ANK	411	440	6.61e-1	SMART
ANK	444	473	7.64e-6	SMART
ANK	477	506	2.13e-4	SMART
ANK	510	539	1.31e-4	SMART
ANK	543	572	7.83e-3	SMART
ANK	576	605	8.52e-4	SMART
ANK	609	638	1.85e-4	SMART
ANK	642	671	7.29e2	SMART
low complexity region	711	725	N/A	INTRINSIC
Pfam:COR	984	1176	4.2e-10	PFAM
DEATH	1299	1396	2.65e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000077453

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559

Domain	Start	End	E-Value	Type
S_TKc	13	275	6.35e-99	SMART
low complexity region	295	306	N/A	INTRINSIC
ANK	378	407	5.09e-2	SMART
ANK	411	440	6.61e-1	SMART
ANK	444	473	7.64e-6	SMART
ANK	477	506	2.13e-4	SMART
ANK	510	539	1.31e-4	SMART
ANK	543	572	7.83e-3	SMART
ANK	576	605	8.52e-4	SMART
ANK	609	638	1.85e-4	SMART
ANK	642	671	7.29e2	SMART
low complexity region	711	725	N/A	INTRINSIC
Pfam:COR	984	1176	4.2e-10	PFAM
DEATH	1299	1396	2.65e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224340

Predicted Effect

probably benign
Transcript: ENSMUST00000224789

Predicted Effect

probably null
Transcript: ENSMUST00000226059

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased sensitivity to ER stress-induced cell death and reduced tunicamycin-induced kidney damage. Mice homozygous for a gene trapped allele show decreased infarct size and neuronal death with improved neurological scores after ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,385	P1238L	probably benign	Het
Aasdh	G	A	5: 76,876,283	T174M	probably damaging	Het
Akap6	A	C	12: 53,069,222	D1036A	probably damaging	Het
Alg6	T	C	4: 99,762,033	S497P	probably benign	Het
Arhgap10	T	A	8: 77,257,347	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,828,555	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,793,888		probably null	Het
Card14	T	A	11: 119,338,370	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,596,880	R32*	probably null	Het
Cdh7	A	T	1: 110,085,053	D372V	probably damaging	Het
Cfap54	A	T	10: 92,839,449	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,951	V100F	probably damaging	Het
Exoc4	G	A	6: 33,265,987	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236	C97S	probably damaging	Het
Frem3	A	T	8: 80,695,157	H2062L	probably benign	Het
Frk	T	C	10: 34,608,458	C476R	probably damaging	Het
Gm10471	T	C	5: 26,089,127	K18E	probably benign	Het
Gm10542	A	G	18: 44,204,601	T49A	probably benign	Het
Gm128	A	G	3: 95,240,011	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,751,710	M298I	probably benign	Het
Gxylt1	T	C	15: 93,245,077	E369G	probably benign	Het
Hpse2	A	G	19: 42,913,199	V368A	probably benign	Het
Ice1	A	T	13: 70,606,594	S458T	probably damaging	Het
Itgb7	T	A	15: 102,223,554	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,518,670	V72A	possibly damaging	Het
Magel2	A	G	7: 62,380,050	M901V	unknown	Het
Mgam	A	T	6: 40,680,624	Y971F	probably benign	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mpp6	T	C	6: 50,183,736	Y326H	probably damaging	Het
Mug1	A	T	6: 121,880,551	D1078V	probably damaging	Het
Myom2	G	A	8: 15,108,934	R870H	probably benign	Het
Nek8	A	T	11: 78,171,285	L71Q	probably null	Het
Nox4	T	A	7: 87,374,413	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054	P73S	probably damaging	Het
Nup205	C	T	6: 35,227,442	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,393,233	F207L	probably damaging	Het
Olfr1043	A	G	2: 86,162,850	I33T	possibly damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Olfr410	A	C	11: 74,334,636	N198K	possibly damaging	Het
Olfr59	A	C	11: 74,288,666	T7P	probably damaging	Het
Prkdc	T	C	16: 15,767,951	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,456,251	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,742,705	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535	S1333P	probably benign	Het
Rpl7	A	G	1: 16,102,504	I197T	probably benign	Het
Sar1a	C	A	10: 61,685,616	Q81K	probably damaging	Het
Shank1	A	T	7: 44,356,796	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,104,889	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,335,801	Q436*	probably null	Het
Szt2	C	T	4: 118,387,106	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,208,212	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,395,890	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,354,221	D419G	possibly damaging	Het

Other mutations in Dapk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dapk1	APN	13	60761040	missense	probably benign	0.23
IGL00500:Dapk1	APN	13	60760804	missense	probably damaging	0.96
IGL00801:Dapk1	APN	13	60761248	missense	probably benign	0.00
IGL00903:Dapk1	APN	13	60761397	missense	probably damaging	0.99
IGL01468:Dapk1	APN	13	60760798	missense	probably benign
IGL01535:Dapk1	APN	13	60731031	splice site	probably benign
IGL01755:Dapk1	APN	13	60761175	missense	probably damaging	0.97
IGL01755:Dapk1	APN	13	60761176	missense	possibly damaging	0.63
IGL01862:Dapk1	APN	13	60726610	missense	probably benign	0.39
IGL01985:Dapk1	APN	13	60736260	missense	probably damaging	1.00
IGL02124:Dapk1	APN	13	60730882	missense	probably benign
IGL02376:Dapk1	APN	13	60696394	missense	probably benign	0.00
IGL02449:Dapk1	APN	13	60719770	splice site	probably benign
IGL02490:Dapk1	APN	13	60749334	missense	probably damaging	1.00
IGL02503:Dapk1	APN	13	60761807	nonsense	probably null
IGL02516:Dapk1	APN	13	60696347	missense	probably damaging	1.00
IGL02544:Dapk1	APN	13	60751217	missense	probably benign
IGL02604:Dapk1	APN	13	60748320	missense	probably benign
IGL03035:Dapk1	APN	13	60716773	missense	probably damaging	0.99
H8562:Dapk1	UTSW	13	60761312	missense	probably damaging	0.98
P0026:Dapk1	UTSW	13	60718149	splice site	probably benign
R0116:Dapk1	UTSW	13	60761100	missense	probably benign
R0165:Dapk1	UTSW	13	60761593	missense	probably benign	0.39
R0357:Dapk1	UTSW	13	60729558	nonsense	probably null
R0446:Dapk1	UTSW	13	60725287	splice site	probably null
R0502:Dapk1	UTSW	13	60730848	splice site	probably null
R0503:Dapk1	UTSW	13	60730848	splice site	probably null
R0597:Dapk1	UTSW	13	60761384	missense	probably benign	0.40
R0614:Dapk1	UTSW	13	60718132	missense	probably damaging	1.00
R0751:Dapk1	UTSW	13	60696298	missense	probably damaging	1.00
R0930:Dapk1	UTSW	13	60757448	missense	probably benign	0.14
R1023:Dapk1	UTSW	13	60730985	missense	probably damaging	1.00
R1101:Dapk1	UTSW	13	60716785	missense	probably damaging	1.00
R1184:Dapk1	UTSW	13	60696298	missense	probably damaging	1.00
R1430:Dapk1	UTSW	13	60754143	missense	probably benign	0.28
R1630:Dapk1	UTSW	13	60729531	missense	probably damaging	0.99
R1681:Dapk1	UTSW	13	60718464	critical splice donor site	probably null
R1799:Dapk1	UTSW	13	60719654	missense	probably damaging	1.00
R2012:Dapk1	UTSW	13	60721857	missense	probably damaging	1.00
R2068:Dapk1	UTSW	13	60751208	missense	probably damaging	1.00
R2131:Dapk1	UTSW	13	60729531	missense	possibly damaging	0.91
R2131:Dapk1	UTSW	13	60761667	missense	possibly damaging	0.80
R2154:Dapk1	UTSW	13	60729503	missense	probably benign	0.36
R2288:Dapk1	UTSW	13	60761749	missense	probably damaging	1.00
R2312:Dapk1	UTSW	13	60757353	missense	probably damaging	0.99
R2362:Dapk1	UTSW	13	60730931	missense	probably damaging	0.98
R2400:Dapk1	UTSW	13	60752216	missense	probably benign	0.34
R2909:Dapk1	UTSW	13	60716817	critical splice donor site	probably null
R2926:Dapk1	UTSW	13	60719750	missense	possibly damaging	0.58
R3741:Dapk1	UTSW	13	60748200	missense	probably benign	0.09
R3810:Dapk1	UTSW	13	60760689	missense	probably damaging	0.98
R4374:Dapk1	UTSW	13	60719684	missense	probably benign	0.01
R4375:Dapk1	UTSW	13	60761589	missense	probably benign
R4377:Dapk1	UTSW	13	60719684	missense	probably benign	0.01
R4490:Dapk1	UTSW	13	60718128	missense	probably benign	0.26
R4576:Dapk1	UTSW	13	60721822	missense	probably benign	0.13
R4599:Dapk1	UTSW	13	60718047	missense	probably benign	0.22
R4682:Dapk1	UTSW	13	60751147	missense	probably benign	0.41
R4717:Dapk1	UTSW	13	60726662	critical splice donor site	probably null
R4775:Dapk1	UTSW	13	60749342	missense	probably benign	0.02
R4790:Dapk1	UTSW	13	60723105	frame shift	probably null
R4897:Dapk1	UTSW	13	60761786	missense	probably benign	0.01
R4931:Dapk1	UTSW	13	60760960	missense	probably benign	0.04
R5113:Dapk1	UTSW	13	60721778	missense	probably benign	0.01
R5503:Dapk1	UTSW	13	60725312	missense	probably benign	0.15
R5948:Dapk1	UTSW	13	60729395	missense	probably damaging	0.97
R6012:Dapk1	UTSW	13	60761662	missense	probably benign	0.00
R6035:Dapk1	UTSW	13	60761199	missense	possibly damaging	0.46
R6035:Dapk1	UTSW	13	60761199	missense	possibly damaging	0.46
R6268:Dapk1	UTSW	13	60761766	missense	possibly damaging	0.91
R6330:Dapk1	UTSW	13	60761326	missense	probably benign	0.01
R6331:Dapk1	UTSW	13	60729442	nonsense	probably null
R6553:Dapk1	UTSW	13	60761161	missense	probably damaging	0.99
R6598:Dapk1	UTSW	13	60761347	missense	probably benign	0.03
R6602:Dapk1	UTSW	13	60749204	missense	probably benign	0.20
R6640:Dapk1	UTSW	13	60716814	missense	probably damaging	0.99
R6684:Dapk1	UTSW	13	60760894	missense	probably damaging	1.00
R6747:Dapk1	UTSW	13	60725340	missense	probably benign	0.22
R6799:Dapk1	UTSW	13	60752235	missense	probably benign
R6809:Dapk1	UTSW	13	60751289	missense	probably benign	0.00
R6915:Dapk1	UTSW	13	60696442	missense	probably damaging	1.00
R6949:Dapk1	UTSW	13	60736324	missense	probably benign	0.11
R6979:Dapk1	UTSW	13	60748281	missense	probably damaging	1.00
R7161:Dapk1	UTSW	13	60696395	missense	possibly damaging	0.89
R7171:Dapk1	UTSW	13	60761785	missense	probably damaging	0.97
R7199:Dapk1	UTSW	13	60754210	missense	probably benign	0.02
R7203:Dapk1	UTSW	13	60696335	missense	possibly damaging	0.90
R7404:Dapk1	UTSW	13	60719641	missense	probably benign	0.00
R7448:Dapk1	UTSW	13	60751176	missense	probably damaging	1.00
R7480:Dapk1	UTSW	13	60757497	missense	probably benign	0.18
R7532:Dapk1	UTSW	13	60730886	missense	probably damaging	1.00
R7574:Dapk1	UTSW	13	60761173	missense	probably damaging	1.00
R7711:Dapk1	UTSW	13	60761551	missense	probably damaging	1.00
R7753:Dapk1	UTSW	13	60751193	missense	possibly damaging	0.58
R7804:Dapk1	UTSW	13	60725339	missense	probably benign	0.41
R7822:Dapk1	UTSW	13	60725901	missense	probably benign	0.05
R7973:Dapk1	UTSW	13	60761563	missense	probably damaging	1.00
R8103:Dapk1	UTSW	13	60749195	missense	probably damaging	0.98
R8121:Dapk1	UTSW	13	60761398	missense	probably damaging	0.99
R8245:Dapk1	UTSW	13	60730896	missense	probably benign
R8401:Dapk1	UTSW	13	60723090	missense	probably benign	0.01
R8419:Dapk1	UTSW	13	60740097	missense	probably benign	0.00
Z1176:Dapk1	UTSW	13	60760804	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGAGTGTGTAAGCCTTTCAGAGT -3'
(R):5'- ACAGGGAAGCCGCCATAGTGTA -3'

Sequencing Primer
(F):5'- GTGTAAGCCTTTCAGAGTGATAAG -3'
(R):5'- CTCAAGGAGCAAGGCAGATTTTTC -3'

Posted On

2014-01-05