Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Dapk1'

594634

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

045769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60749761-60911005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60909365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1326 (D1326G)

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: D1326G

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

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: D1326G

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: D1326G

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

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: D1326G

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: D1326G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,886,723 (GRCm39)	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,203,649 (GRCm39)	V34G	probably damaging	Het
Alkbh3	T	C	2: 93,838,437 (GRCm39)	S44G	probably benign	Het
Alpk2	A	T	18: 65,439,555 (GRCm39)	C613S	probably benign	Het
Aplp2	G	A	9: 31,072,645 (GRCm39)	R488C	probably damaging	Het
Arid1b	A	G	17: 5,387,095 (GRCm39)	N1463S	probably benign	Het
Atxn2l	A	T	7: 126,100,441 (GRCm39)	L125Q	probably damaging	Het
Cd3d	A	G	9: 44,897,634 (GRCm39)	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234 (GRCm39)	D764E	probably benign	Het
Col19a1	T	C	1: 24,569,089 (GRCm39)	I220V	unknown	Het
Cpq	T	C	15: 33,497,493 (GRCm39)	I411T	probably benign	Het
Crybg2	C	A	4: 133,792,844 (GRCm39)	H160N	probably benign	Het
Cryl1	A	T	14: 57,513,013 (GRCm39)	C285S	probably benign	Het
Dgkh	A	G	14: 78,962,459 (GRCm39)	V24A	probably benign	Het
Dnajb4	A	C	3: 151,892,154 (GRCm39)	S226R	probably benign	Het
Dnm3	A	T	1: 161,819,622 (GRCm39)	I850N	possibly damaging	Het
Dtna	G	T	18: 23,758,253 (GRCm39)		probably null	Het
Efcab6	G	T	15: 83,834,125 (GRCm39)	D494E	probably benign	Het
Fam169a	G	T	13: 97,263,196 (GRCm39)	E550*	probably null	Het
Fbxw7	A	G	3: 84,832,988 (GRCm39)	N10S	probably benign	Het
Flrt2	T	C	12: 95,747,528 (GRCm39)	F622S	probably damaging	Het
Gprc5d	G	A	6: 135,093,355 (GRCm39)	T184I	possibly damaging	Het
Grem2	A	G	1: 174,664,693 (GRCm39)	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,327,533 (GRCm39)	T310N	probably damaging	Het
H2-T13	T	A	17: 36,394,770 (GRCm39)	N51I	probably damaging	Het
Hyou1	A	G	9: 44,295,759 (GRCm39)	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,745,971 (GRCm39)	S107P	probably benign	Het
Kif14	G	T	1: 136,399,191 (GRCm39)	G451C	probably benign	Het
Kit	T	A	5: 75,798,019 (GRCm39)	F436I	probably damaging	Het
Lonp2	G	A	8: 87,440,636 (GRCm39)	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,716,375 (GRCm39)	G87C	probably damaging	Het
Lrp2	T	C	2: 69,309,687 (GRCm39)		probably null	Het
Lrrc37	G	T	11: 103,505,738 (GRCm39)	Q2077K	probably benign	Het
Mkln1	A	G	6: 31,469,584 (GRCm39)	H598R	probably damaging	Het
Mmaa	T	C	8: 79,994,774 (GRCm39)	H344R	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myh7b	T	G	2: 155,462,323 (GRCm39)	L342R	probably damaging	Het
Or12e8	A	G	2: 87,187,871 (GRCm39)	N28D	probably benign	Het
Or2h2b-ps1	C	T	17: 37,480,847 (GRCm39)	G129R	probably damaging	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or7e178	A	T	9: 20,225,319 (GRCm39)	V299E	possibly damaging	Het
Pcsk5	T	A	19: 17,416,444 (GRCm39)	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,824,414 (GRCm39)	T47I	possibly damaging	Het
Pklr	T	C	3: 89,048,649 (GRCm39)	L104P	probably damaging	Het
Plcxd2	A	G	16: 45,800,693 (GRCm39)	V177A	probably benign	Het
Pramel16	T	C	4: 143,675,822 (GRCm39)	S335G	probably benign	Het
Prdm10	G	T	9: 31,268,528 (GRCm39)	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,455 (GRCm39)	S105P	probably benign	Het
Prss51	T	A	14: 64,334,937 (GRCm39)	V164E	probably damaging	Het
Psap	T	C	10: 60,135,634 (GRCm39)	V360A	probably damaging	Het
Psg22	T	C	7: 18,452,267 (GRCm39)		probably null	Het
Qrfprl	A	G	6: 65,418,357 (GRCm39)	H23R		Het
Rad51	A	G	2: 118,962,071 (GRCm39)	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,664,874 (GRCm39)	K277R	probably benign	Het
Rassf2	T	A	2: 131,847,297 (GRCm39)	T103S	probably benign	Het
Rbm15b	T	A	9: 106,763,142 (GRCm39)	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,237,909 (GRCm39)	F561L	probably damaging	Het
Scn1a	G	A	2: 66,134,004 (GRCm39)	A130V	probably benign	Het
Scn7a	T	C	2: 66,531,221 (GRCm39)	E552G	probably damaging	Het
Slc39a14	T	A	14: 70,551,124 (GRCm39)	R183W	probably damaging	Het
Slfn1	A	T	11: 83,012,089 (GRCm39)	K68N	possibly damaging	Het
Slx4ip	A	G	2: 136,909,914 (GRCm39)	D303G	probably damaging	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Spata31e3	T	G	13: 50,401,131 (GRCm39)	R398S	probably benign	Het
Specc1l	C	A	10: 75,066,642 (GRCm39)	N30K	probably benign	Het
Spmip2	A	G	3: 79,313,167 (GRCm39)	I80M	probably damaging	Het
Tbx19	A	G	1: 164,966,768 (GRCm39)	S369P	probably benign	Het
Usp17ld	T	C	7: 102,899,489 (GRCm39)	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,036 (GRCm39)	L287P	probably benign	Het
Zfhx4	G	T	3: 5,462,016 (GRCm39)	M1230I	probably damaging	Het
Zfp1	T	C	8: 112,396,794 (GRCm39)	C272R	not run	Het
Zfp458	A	G	13: 67,407,664 (GRCm39)	S64P	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
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
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'- TCCCTTACCAACACCATGGG -3'
(R):5'- TGAACACAGAGGAGGCCTTC -3'

Sequencing Primer
(F):5'- GTGGGTACAAGGAGAGCTTC -3'
(R):5'- GAGGCCTTCAGTAAAAAGTCCGC -3'

Posted On

2019-11-12