Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02544:Dapk1'

297739

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dapk1

Ensembl Gene

ENSMUSG00000021559

Gene Name

death associated protein kinase 1

Synonyms

DAP-Kinase, D13Ucla1, 2810425C21Rik, 2310039H24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02544

Quality Score

Status

Chromosome

Chromosomal Location

60749761-60911005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 60899031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 834 (S834A)

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: S834A

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

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: S834A

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: S834A

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

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: S834A

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: ENSMUST00000225952

Predicted Effect

probably benign
Transcript: ENSMUST00000226059
AA Change: S834A

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

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	C	5: 77,049,961 (GRCm39)	S12A	probably benign	Het
Abcb5	A	T	12: 118,870,003 (GRCm39)		probably benign	Het
Acap3	G	A	4: 155,976,867 (GRCm39)	E6K	possibly damaging	Het
Ano3	A	T	2: 110,488,594 (GRCm39)	I946K	possibly damaging	Het
Arid1a	A	G	4: 133,409,059 (GRCm39)	V1816A	unknown	Het
Cacna1c	C	T	6: 118,728,440 (GRCm39)	G335R	probably damaging	Het
Ccnh	C	A	13: 85,350,460 (GRCm39)	Y118*	probably null	Het
Cep76	C	T	18: 67,768,020 (GRCm39)		probably benign	Het
Cyp2c65	T	C	19: 39,079,082 (GRCm39)	V387A	probably damaging	Het
Ddx39a	T	C	8: 84,449,402 (GRCm39)	S367P	probably benign	Het
Dicer1	A	G	12: 104,681,091 (GRCm39)	I474T	probably damaging	Het
Dnah10	G	A	5: 124,876,069 (GRCm39)	R2579H	probably benign	Het
Dnajc16	T	C	4: 141,491,958 (GRCm39)	N622D	probably damaging	Het
Eif3c	G	T	7: 126,146,784 (GRCm39)	S799*	probably null	Het
Fbxo9	A	G	9: 77,994,541 (GRCm39)	Y259H	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,473 (GRCm39)	H160L	probably benign	Het
Galc	A	T	12: 98,197,701 (GRCm39)	V336D	probably benign	Het
Matcap1	C	T	8: 106,010,092 (GRCm39)	V286M	probably benign	Het
Mfrp	T	C	9: 44,014,091 (GRCm39)	L153P	probably damaging	Het
Mtx1	C	A	3: 89,117,703 (GRCm39)	W30L	probably damaging	Het
Mysm1	A	T	4: 94,840,543 (GRCm39)	D624E	probably damaging	Het
Naa16	A	G	14: 79,573,260 (GRCm39)	F837L	probably damaging	Het
Or10ag56	C	T	2: 87,139,471 (GRCm39)	R113C	possibly damaging	Het
Or1j17	A	G	2: 36,578,848 (GRCm39)	Y278C	probably damaging	Het
Or2ag1	T	C	7: 106,313,742 (GRCm39)	I49V	probably benign	Het
Or5h25	A	T	16: 58,930,507 (GRCm39)	H155Q	probably damaging	Het
Pde4d	G	T	13: 109,877,057 (GRCm39)	D137Y	probably damaging	Het
Pik3r1	G	T	13: 101,823,784 (GRCm39)	R534S	probably damaging	Het
Pira12	T	A	7: 3,900,185 (GRCm39)	Y139F	probably damaging	Het
Plekha5	A	C	6: 140,535,454 (GRCm39)	E239A	possibly damaging	Het
Psap	G	T	10: 60,136,405 (GRCm39)		probably benign	Het
Rap2b	T	C	3: 61,272,560 (GRCm39)	F28S	probably damaging	Het
Rfc5	A	T	5: 117,524,931 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,815,024 (GRCm39)	D175N	probably benign	Het
Sbno1	T	G	5: 124,542,046 (GRCm39)	I370L	probably damaging	Het
Slc17a6	T	A	7: 51,315,903 (GRCm39)	C390*	probably null	Het
Srsf7	A	T	17: 80,511,620 (GRCm39)		probably benign	Het
Tbc1d10c	C	T	19: 4,237,959 (GRCm39)	D272N	probably benign	Het
Tll2	A	G	19: 41,124,404 (GRCm39)	F204L	probably damaging	Het
Tmc1	T	A	19: 20,884,327 (GRCm39)	T38S	probably benign	Het
Tmem184b	A	T	15: 79,250,007 (GRCm39)	I256K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trip11	G	A	12: 101,859,780 (GRCm39)	R365W	probably damaging	Het
Ubr4	C	T	4: 139,142,429 (GRCm39)	P1339S	probably damaging	Het
Vmn2r83	T	A	10: 79,317,293 (GRCm39)		probably benign	Het

Other mutations in Dapk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dapk1	APN	13	60,908,854 (GRCm39)	missense	probably benign	0.23
IGL00500:Dapk1	APN	13	60,908,618 (GRCm39)	missense	probably damaging	0.96
IGL00801:Dapk1	APN	13	60,909,062 (GRCm39)	missense	probably benign	0.00
IGL00903:Dapk1	APN	13	60,909,211 (GRCm39)	missense	probably damaging	0.99
IGL01468:Dapk1	APN	13	60,908,612 (GRCm39)	missense	probably benign
IGL01535:Dapk1	APN	13	60,878,845 (GRCm39)	splice site	probably benign
IGL01755:Dapk1	APN	13	60,908,990 (GRCm39)	missense	possibly damaging	0.63
IGL01755:Dapk1	APN	13	60,908,989 (GRCm39)	missense	probably damaging	0.97
IGL01862:Dapk1	APN	13	60,874,424 (GRCm39)	missense	probably benign	0.39
IGL01985:Dapk1	APN	13	60,884,074 (GRCm39)	missense	probably damaging	1.00
IGL02124:Dapk1	APN	13	60,878,696 (GRCm39)	missense	probably benign
IGL02376:Dapk1	APN	13	60,844,208 (GRCm39)	missense	probably benign	0.00
IGL02449:Dapk1	APN	13	60,867,584 (GRCm39)	splice site	probably benign
IGL02490:Dapk1	APN	13	60,897,148 (GRCm39)	missense	probably damaging	1.00
IGL02503:Dapk1	APN	13	60,909,621 (GRCm39)	nonsense	probably null
IGL02516:Dapk1	APN	13	60,844,161 (GRCm39)	missense	probably damaging	1.00
IGL02604:Dapk1	APN	13	60,896,134 (GRCm39)	missense	probably benign
IGL03035:Dapk1	APN	13	60,864,587 (GRCm39)	missense	probably damaging	0.99
H8562:Dapk1	UTSW	13	60,909,126 (GRCm39)	missense	probably damaging	0.98
P0026:Dapk1	UTSW	13	60,865,963 (GRCm39)	splice site	probably benign
R0116:Dapk1	UTSW	13	60,908,914 (GRCm39)	missense	probably benign
R0165:Dapk1	UTSW	13	60,909,407 (GRCm39)	missense	probably benign	0.39
R0357:Dapk1	UTSW	13	60,877,372 (GRCm39)	nonsense	probably null
R0446:Dapk1	UTSW	13	60,873,101 (GRCm39)	splice site	probably null
R0502:Dapk1	UTSW	13	60,878,662 (GRCm39)	splice site	probably null
R0503:Dapk1	UTSW	13	60,878,662 (GRCm39)	splice site	probably null
R0597:Dapk1	UTSW	13	60,909,198 (GRCm39)	missense	probably benign	0.40
R0614:Dapk1	UTSW	13	60,865,946 (GRCm39)	missense	probably damaging	1.00
R0751:Dapk1	UTSW	13	60,844,112 (GRCm39)	missense	probably damaging	1.00
R0930:Dapk1	UTSW	13	60,905,262 (GRCm39)	missense	probably benign	0.14
R1023:Dapk1	UTSW	13	60,878,799 (GRCm39)	missense	probably damaging	1.00
R1033:Dapk1	UTSW	13	60,869,679 (GRCm39)	critical splice donor site	probably null
R1101:Dapk1	UTSW	13	60,864,599 (GRCm39)	missense	probably damaging	1.00
R1184:Dapk1	UTSW	13	60,844,112 (GRCm39)	missense	probably damaging	1.00
R1430:Dapk1	UTSW	13	60,901,957 (GRCm39)	missense	probably benign	0.28
R1630:Dapk1	UTSW	13	60,877,345 (GRCm39)	missense	probably damaging	0.99
R1681:Dapk1	UTSW	13	60,866,278 (GRCm39)	critical splice donor site	probably null
R1799:Dapk1	UTSW	13	60,867,468 (GRCm39)	missense	probably damaging	1.00
R2012:Dapk1	UTSW	13	60,869,671 (GRCm39)	missense	probably damaging	1.00
R2068:Dapk1	UTSW	13	60,899,022 (GRCm39)	missense	probably damaging	1.00
R2131:Dapk1	UTSW	13	60,909,481 (GRCm39)	missense	possibly damaging	0.80
R2131:Dapk1	UTSW	13	60,877,345 (GRCm39)	missense	possibly damaging	0.91
R2154:Dapk1	UTSW	13	60,877,317 (GRCm39)	missense	probably benign	0.36
R2288:Dapk1	UTSW	13	60,909,563 (GRCm39)	missense	probably damaging	1.00
R2312:Dapk1	UTSW	13	60,905,167 (GRCm39)	missense	probably damaging	0.99
R2362:Dapk1	UTSW	13	60,878,745 (GRCm39)	missense	probably damaging	0.98
R2400:Dapk1	UTSW	13	60,900,030 (GRCm39)	missense	probably benign	0.34
R2909:Dapk1	UTSW	13	60,864,631 (GRCm39)	critical splice donor site	probably null
R2926:Dapk1	UTSW	13	60,867,564 (GRCm39)	missense	possibly damaging	0.58
R3741:Dapk1	UTSW	13	60,896,014 (GRCm39)	missense	probably benign	0.09
R3810:Dapk1	UTSW	13	60,908,503 (GRCm39)	missense	probably damaging	0.98
R4374:Dapk1	UTSW	13	60,867,498 (GRCm39)	missense	probably benign	0.01
R4375:Dapk1	UTSW	13	60,909,403 (GRCm39)	missense	probably benign
R4377:Dapk1	UTSW	13	60,867,498 (GRCm39)	missense	probably benign	0.01
R4490:Dapk1	UTSW	13	60,865,942 (GRCm39)	missense	probably benign	0.26
R4576:Dapk1	UTSW	13	60,869,636 (GRCm39)	missense	probably benign	0.13
R4599:Dapk1	UTSW	13	60,865,861 (GRCm39)	missense	probably benign	0.22
R4682:Dapk1	UTSW	13	60,898,961 (GRCm39)	missense	probably benign	0.41
R4717:Dapk1	UTSW	13	60,874,476 (GRCm39)	critical splice donor site	probably null
R4775:Dapk1	UTSW	13	60,897,156 (GRCm39)	missense	probably benign	0.02
R4790:Dapk1	UTSW	13	60,870,919 (GRCm39)	frame shift	probably null
R4897:Dapk1	UTSW	13	60,909,600 (GRCm39)	missense	probably benign	0.01
R4931:Dapk1	UTSW	13	60,908,774 (GRCm39)	missense	probably benign	0.04
R5113:Dapk1	UTSW	13	60,869,592 (GRCm39)	missense	probably benign	0.01
R5503:Dapk1	UTSW	13	60,873,126 (GRCm39)	missense	probably benign	0.15
R5948:Dapk1	UTSW	13	60,877,209 (GRCm39)	missense	probably damaging	0.97
R6012:Dapk1	UTSW	13	60,909,476 (GRCm39)	missense	probably benign	0.00
R6035:Dapk1	UTSW	13	60,909,013 (GRCm39)	missense	possibly damaging	0.46
R6035:Dapk1	UTSW	13	60,909,013 (GRCm39)	missense	possibly damaging	0.46
R6268:Dapk1	UTSW	13	60,909,580 (GRCm39)	missense	possibly damaging	0.91
R6330:Dapk1	UTSW	13	60,909,140 (GRCm39)	missense	probably benign	0.01
R6331:Dapk1	UTSW	13	60,877,256 (GRCm39)	nonsense	probably null
R6553:Dapk1	UTSW	13	60,908,975 (GRCm39)	missense	probably damaging	0.99
R6598:Dapk1	UTSW	13	60,909,161 (GRCm39)	missense	probably benign	0.03
R6602:Dapk1	UTSW	13	60,897,018 (GRCm39)	missense	probably benign	0.20
R6640:Dapk1	UTSW	13	60,864,628 (GRCm39)	missense	probably damaging	0.99
R6684:Dapk1	UTSW	13	60,908,708 (GRCm39)	missense	probably damaging	1.00
R6747:Dapk1	UTSW	13	60,873,154 (GRCm39)	missense	probably benign	0.22
R6799:Dapk1	UTSW	13	60,900,049 (GRCm39)	missense	probably benign
R6809:Dapk1	UTSW	13	60,899,103 (GRCm39)	missense	probably benign	0.00
R6915:Dapk1	UTSW	13	60,844,256 (GRCm39)	missense	probably damaging	1.00
R6949:Dapk1	UTSW	13	60,884,138 (GRCm39)	missense	probably benign	0.11
R6979:Dapk1	UTSW	13	60,896,095 (GRCm39)	missense	probably damaging	1.00
R7161:Dapk1	UTSW	13	60,844,209 (GRCm39)	missense	possibly damaging	0.89
R7171:Dapk1	UTSW	13	60,909,599 (GRCm39)	missense	probably damaging	0.97
R7199:Dapk1	UTSW	13	60,902,024 (GRCm39)	missense	probably benign	0.02
R7203:Dapk1	UTSW	13	60,844,149 (GRCm39)	missense	possibly damaging	0.90
R7404:Dapk1	UTSW	13	60,867,455 (GRCm39)	missense	probably benign	0.00
R7448:Dapk1	UTSW	13	60,898,990 (GRCm39)	missense	probably damaging	1.00
R7480:Dapk1	UTSW	13	60,905,311 (GRCm39)	missense	probably benign	0.18
R7532:Dapk1	UTSW	13	60,878,700 (GRCm39)	missense	probably damaging	1.00
R7574:Dapk1	UTSW	13	60,908,987 (GRCm39)	missense	probably damaging	1.00
R7711:Dapk1	UTSW	13	60,909,365 (GRCm39)	missense	probably damaging	1.00
R7753:Dapk1	UTSW	13	60,899,007 (GRCm39)	missense	possibly damaging	0.58
R7804:Dapk1	UTSW	13	60,873,153 (GRCm39)	missense	probably benign	0.41
R7822:Dapk1	UTSW	13	60,873,715 (GRCm39)	missense	probably benign	0.05
R7973:Dapk1	UTSW	13	60,909,377 (GRCm39)	missense	probably damaging	1.00
R8103:Dapk1	UTSW	13	60,897,009 (GRCm39)	missense	probably damaging	0.98
R8121:Dapk1	UTSW	13	60,909,212 (GRCm39)	missense	probably damaging	0.99
R8245:Dapk1	UTSW	13	60,878,710 (GRCm39)	missense	probably benign
R8401:Dapk1	UTSW	13	60,870,904 (GRCm39)	missense	probably benign	0.01
R8419:Dapk1	UTSW	13	60,887,911 (GRCm39)	missense	probably benign	0.00
R8926:Dapk1	UTSW	13	60,908,734 (GRCm39)	missense	probably damaging	0.98
R9063:Dapk1	UTSW	13	60,866,264 (GRCm39)	missense	probably benign	0.06
R9131:Dapk1	UTSW	13	60,909,208 (GRCm39)	missense	probably damaging	1.00
R9176:Dapk1	UTSW	13	60,866,262 (GRCm39)	missense	probably damaging	1.00
R9301:Dapk1	UTSW	13	60,866,125 (GRCm39)	missense	possibly damaging	0.92
R9407:Dapk1	UTSW	13	60,898,991 (GRCm39)	nonsense	probably null
R9491:Dapk1	UTSW	13	60,877,369 (GRCm39)	missense	probably benign	0.44
R9510:Dapk1	UTSW	13	60,910,203 (GRCm39)	missense	unknown
R9624:Dapk1	UTSW	13	60,895,937 (GRCm39)	missense	probably benign	0.31
R9726:Dapk1	UTSW	13	60,898,948 (GRCm39)	missense	probably benign	0.25
R9794:Dapk1	UTSW	13	60,909,082 (GRCm39)	missense	probably damaging	0.98
Z1176:Dapk1	UTSW	13	60,908,618 (GRCm39)	frame shift	probably null

Posted On

2015-04-16