Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Dapk1'

345467

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

041815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60601947-60763191 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60718047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 153 (P153S)

Ref Sequence

ENSEMBL: ENSMUSP00000153607 (fasta)

Gene Model

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

AlphaFold

Q80YE7

Predicted Effect

probably benign
Transcript: ENSMUST00000044083
AA Change: P153S

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: P153S

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 benign
Transcript: ENSMUST00000077453
AA Change: P153S

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: P153S

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 benign
Transcript: ENSMUST00000226059
AA Change: P153S

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	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
R1033:Dapk1	UTSW	13	60721865	critical splice donor site	probably null
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
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
R8926:Dapk1	UTSW	13	60760920	missense	probably damaging	0.98
R9063:Dapk1	UTSW	13	60718450	missense	probably benign	0.06
R9131:Dapk1	UTSW	13	60761394	missense	probably damaging	1.00
R9176:Dapk1	UTSW	13	60718448	missense	probably damaging	1.00
R9301:Dapk1	UTSW	13	60718311	missense	possibly damaging	0.92
R9407:Dapk1	UTSW	13	60751177	nonsense	probably null
R9491:Dapk1	UTSW	13	60729555	missense	probably benign	0.44
R9510:Dapk1	UTSW	13	60762389	missense	unknown
R9624:Dapk1	UTSW	13	60748123	missense	probably benign	0.31
R9726:Dapk1	UTSW	13	60751134	missense	probably benign	0.25
R9794:Dapk1	UTSW	13	60761268	missense	probably damaging	0.98
Z1176:Dapk1	UTSW	13	60760804	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAATTCTTGCCTCGGATCTGC -3'
(R):5'- TCTTAGAGCCAGGGAGATCCAG -3'

Sequencing Primer
(F):5'- CCCTGAGCCAAAATCCTGTTC -3'
(R):5'- CAGCCAGTGGACTGTGGATG -3'

Posted On

2015-09-25