Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Dapk1'

583383

Institutional Source

Beutler Lab

Gene Symbol

Dapk1

Ensembl Gene

ENSMUSG00000021559

Gene Name

death associated protein kinase 1

Synonyms

DAP-Kinase, D13Ucla1, 2810425C21Rik, 2310039H24Rik

MMRRC Submission

045604-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60749761-60911005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60878700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 563 (L563P)

Ref Sequence

ENSEMBL: ENSMUSP00000076666 (fasta)

Gene Model

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

AlphaFold

Q80YE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044083
AA Change: L563P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: L563P

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 damaging
Transcript: ENSMUST00000077453
AA Change: L563P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: L563P

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 damaging
Transcript: ENSMUST00000226059
AA Change: L563P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,220,589 (GRCm39)	I174K	probably damaging	Het
Ano2	A	T	6: 125,940,667 (GRCm39)	I597F	probably damaging	Het
Ap1g1	T	C	8: 110,586,796 (GRCm39)	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,084,523 (GRCm39)	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,777,139 (GRCm39)	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,226,681 (GRCm39)	R355Q	probably benign	Het
Ccser1	T	A	6: 62,356,915 (GRCm39)	C784*	probably null	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Chd9	A	G	8: 91,721,193 (GRCm39)	I994V	unknown	Het
Cst13	T	G	2: 148,665,127 (GRCm39)	Y41D	probably benign	Het
Cyth2	C	T	7: 45,457,448 (GRCm39)	A342T	probably benign	Het
Dclk3	T	G	9: 111,296,596 (GRCm39)	S47A	probably benign	Het
Dync1h1	C	A	12: 110,618,011 (GRCm39)	N3183K	probably benign	Het
Enpp1	C	T	10: 24,551,885 (GRCm39)	V165M	probably benign	Het
Ephx3	T	C	17: 32,407,763 (GRCm39)	N173S	possibly damaging	Het
Erc1	T	A	6: 119,756,592 (GRCm39)	D388V	probably benign	Het
Esp34	T	G	17: 38,870,511 (GRCm39)	V135G	possibly damaging	Het
Gfy	G	A	7: 44,827,461 (GRCm39)	P212S	probably damaging	Het
Gm5239	C	T	18: 35,669,795 (GRCm39)	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,942,107 (GRCm39)	F113L	probably benign	Het
Hectd1	T	A	12: 51,837,233 (GRCm39)	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,469,721 (GRCm39)	S431R	probably damaging	Het
Impg2	G	A	16: 56,087,543 (GRCm39)	A1121T	probably damaging	Het
Irx1	A	G	13: 72,108,314 (GRCm39)	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,499,557 (GRCm39)	V79I	probably benign	Het
Kcnd3	G	A	3: 105,575,526 (GRCm39)	R550H	probably damaging	Het
Klhl9	A	T	4: 88,639,090 (GRCm39)	S384T	possibly damaging	Het
Kng2	T	C	16: 22,845,794 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,560,464 (GRCm39)	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,130,504 (GRCm39)	S78P	probably benign	Het
Ms4a14	A	G	19: 11,281,323 (GRCm39)	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,926,318 (GRCm39)	I124S	unknown	Het
Myh3	A	G	11: 66,981,921 (GRCm39)	M806V	probably benign	Het
Nelfcd	T	C	2: 174,268,189 (GRCm39)	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,505,097 (GRCm39)	P748Q	probably benign	Het
Or1j13	C	T	2: 36,370,138 (GRCm39)	M1I	probably null	Het
Or6n2	T	C	1: 173,897,664 (GRCm39)	S267P	probably benign	Het
Plxna2	G	A	1: 194,327,127 (GRCm39)	A354T	probably benign	Het
Prpf39	G	T	12: 65,100,145 (GRCm39)	V273L	probably benign	Het
Rad9a	T	C	19: 4,251,522 (GRCm39)		probably benign	Het
Rnf135	A	G	11: 80,089,732 (GRCm39)	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166 (GRCm39)	A153S	possibly damaging	Het
Selenot	G	T	3: 58,492,653 (GRCm39)	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013 (GRCm39)	L277P	probably damaging	Het
Sp7	A	G	15: 102,267,584 (GRCm39)	F92S	possibly damaging	Het
Spata1	A	T	3: 146,173,946 (GRCm39)	I380N	possibly damaging	Het
Spdye4b	G	T	5: 143,180,652 (GRCm39)	R39S	possibly damaging	Het
Spmip9	T	C	6: 70,890,621 (GRCm39)	K57R	probably benign	Het
Stom	C	A	2: 35,211,589 (GRCm39)	R144L	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,486 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,249,565 (GRCm39)	T998A	probably benign	Het
Vcl	C	A	14: 21,079,392 (GRCm39)	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,314,281 (GRCm39)	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,295,189 (GRCm39)	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,059,622 (GRCm39)	M429K	probably benign	Het
Vmn2r8	T	A	5: 108,950,106 (GRCm39)	Y247F	probably benign	Het
Washc5	A	T	15: 59,239,260 (GRCm39)	S168T	possibly damaging	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
IGL02544:Dapk1	APN	13	60,899,031 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACGGAATGGATAAAGCCCC -3'
(R):5'- CCAACAAAAGTGTCTGGCCG -3'

Sequencing Primer
(F):5'- TCCAGTCCAGGCAATGACATTTG -3'
(R):5'- AAAGTGTCTGGCCGGCTGG -3'

Posted On

2019-10-17