Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Dapk1'

24122

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

038441-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

60749761-60911005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60909407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1340 (V1340A)

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: V1340A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: V1340A

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: V1340A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: V1340A

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: V1340A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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
2700049A03Rik	T	C	12: 71,213,924 (GRCm39)	I717T	possibly damaging	Het
6430571L13Rik	A	G	9: 107,223,383 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,950,126 (GRCm39)		probably benign	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,558,499 (GRCm39)		probably benign	Het
Agap3	A	G	5: 24,684,743 (GRCm39)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,517,445 (GRCm39)	S459P	probably benign	Het
Armh4	A	G	14: 50,011,243 (GRCm39)	S155P	probably benign	Het
Ascc3	T	A	10: 50,718,223 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,613,980 (GRCm39)	N305S	probably damaging	Het
Catip	T	A	1: 74,407,628 (GRCm39)	L320Q	possibly damaging	Het
Cplane1	G	A	15: 8,245,866 (GRCm39)	V1413M	probably damaging	Het
Cttnbp2	G	A	6: 18,435,409 (GRCm39)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,257,481 (GRCm39)	N228T	probably benign	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Ddhd1	G	A	14: 45,833,049 (GRCm39)	T849M	probably damaging	Het
Dnah6	A	G	6: 72,998,306 (GRCm39)	S3987P	probably benign	Het
Dst	C	A	1: 34,193,727 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,049,203 (GRCm39)		probably null	Het
Ern2	T	C	7: 121,779,002 (GRCm39)	T281A	probably benign	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Gckr	A	G	5: 31,484,292 (GRCm39)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,293,419 (GRCm39)		probably null	Het
Gm7535	T	C	17: 18,131,437 (GRCm39)		probably benign	Het
Gmps	T	A	3: 63,901,375 (GRCm39)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,917,414 (GRCm39)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 110,401,998 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,657,867 (GRCm39)	I1934F	probably damaging	Het
Lars1	A	T	18: 42,335,762 (GRCm39)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,553,514 (GRCm39)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,111,739 (GRCm39)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Meiob	A	G	17: 25,054,135 (GRCm39)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,250,283 (GRCm39)	T41M	probably damaging	Het
Miga1	C	T	3: 151,996,480 (GRCm39)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,198,907 (GRCm39)		probably null	Het
Or5p62	T	C	7: 107,771,882 (GRCm39)	D23G	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,540,208 (GRCm39)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,381,434 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,099,974 (GRCm39)	M1826K	probably benign	Het
Qki	T	A	17: 10,457,892 (GRCm39)	D159V	probably damaging	Het
Rab12	A	T	17: 66,807,312 (GRCm39)	I139N	probably damaging	Het
Rab25	T	A	3: 88,455,362 (GRCm39)	E7D	probably benign	Het
Rala	A	T	13: 18,063,174 (GRCm39)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,230,407 (GRCm39)		probably benign	Het
Rbl2	T	A	8: 91,800,804 (GRCm39)	Y89N	probably damaging	Het
Rho	A	T	6: 115,909,188 (GRCm39)	I75F	probably damaging	Het
Slc38a4	C	A	15: 96,906,830 (GRCm39)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,245,670 (GRCm39)	D551G	probably null	Het
Smyd3	T	C	1: 178,871,437 (GRCm39)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,684,512 (GRCm39)	L180*	probably null	Het
Stat6	T	C	10: 127,493,096 (GRCm39)	V576A	probably damaging	Het
Strn	T	C	17: 78,984,803 (GRCm39)	D127G	possibly damaging	Het
Syne1	T	C	10: 4,983,096 (GRCm39)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,306,678 (GRCm39)		probably null	Het
Tcf3	C	T	10: 80,248,831 (GRCm39)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,103,286 (GRCm39)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,866,020 (GRCm39)		probably benign	Het
Tmprss11c	A	T	5: 86,379,786 (GRCm39)		probably benign	Het
Tnfsf18	A	G	1: 161,322,300 (GRCm39)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,742,871 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,639,433 (GRCm39)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,789,864 (GRCm39)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,551,686 (GRCm39)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,683,460 (GRCm39)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vwce	T	C	19: 10,637,337 (GRCm39)		probably benign	Het
Wdhd1	A	G	14: 47,504,525 (GRCm39)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,752,604 (GRCm39)	S560P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AAGGAGAGCTTCAGCAGCATCAC -3'
(R):5'- TGGAATTGTAGGACGTGCCACTG -3'

Sequencing Primer
(F):5'- TGGATATCCATGCGTCAGAC -3'
(R):5'- CACTGTTACAGCTTGAGGCATAG -3'

Posted On

2013-04-16