Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Dapk1'

367869

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

041991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60749761-60911005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60897156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 792 (S792T)

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: S792T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: S792T

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: S792T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: S792T

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: S792T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAACCCTTTGGCCTGCAGTC -3'
(R):5'- AGACACTCGGCTCTACATTTC -3'

Sequencing Primer
(F):5'- CTGCAGTCTCAGTGAGCATTAAC -3'
(R):5'- TATTAAGCACCCACTGAGTGCTAGG -3'

Posted On

2015-12-29