Mutagenetix > Incidental Mutation

Incidental Mutation 'R4931:Dapk1'

380587

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

042532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60749761-60911005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60908774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1129 (V1129A)

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: V1129A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: V1129A

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: V1129A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: V1129A

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: V1129A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.3360

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (78/82)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,643,875 (GRCm39)	D21G	probably benign	Het
4930562C15Rik	T	C	16: 4,678,910 (GRCm39)	L68P	possibly damaging	Het
Ache	A	G	5: 137,290,176 (GRCm39)	I414V	probably benign	Het
Acy1	G	A	9: 106,310,390 (GRCm39)	H308Y	probably damaging	Het
Aldh1b1	A	C	4: 45,803,661 (GRCm39)	I400L	probably benign	Het
Ankrd40	T	A	11: 94,225,647 (GRCm39)	L226Q	probably benign	Het
B3gnt9	T	C	8: 105,980,876 (GRCm39)	T171A	probably benign	Het
Ccdc33	T	C	9: 57,977,134 (GRCm39)	Y289C	probably damaging	Het
Cd209f	A	T	8: 4,153,688 (GRCm39)	I187N	probably damaging	Het
Cers6	T	G	2: 68,935,456 (GRCm39)	S319A	probably damaging	Het
Chrna4	A	G	2: 180,670,665 (GRCm39)	S364P	probably benign	Het
Chrnb3	T	C	8: 27,884,258 (GRCm39)	S317P	probably damaging	Het
Dhx9	G	A	1: 153,348,419 (GRCm39)	P302L	probably benign	Het
Dnaaf9	A	G	2: 130,583,793 (GRCm39)	F496L	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Duox2	T	C	2: 122,127,236 (GRCm39)	N147S	probably benign	Het
Dytn	T	G	1: 63,672,837 (GRCm39)	E522A	probably benign	Het
E130114P18Rik	T	C	4: 97,608,524 (GRCm39)	D27G	unknown	Het
Egf	A	G	3: 129,505,117 (GRCm39)	F118S	probably damaging	Het
Eif2d	T	A	1: 131,082,128 (GRCm39)	F73L	probably damaging	Het
Eps8l1	A	G	7: 4,474,240 (GRCm39)	E237G	possibly damaging	Het
Espl1	A	G	15: 102,214,165 (GRCm39)	E664G	probably benign	Het
Fbrsl1	A	T	5: 110,526,895 (GRCm39)	S373T	possibly damaging	Het
Fras1	T	A	5: 96,784,699 (GRCm39)	F894Y	probably benign	Het
Gpatch8	T	C	11: 102,372,050 (GRCm39)	E496G	unknown	Het
Gucy1a2	A	G	9: 3,759,588 (GRCm39)	K465E	probably damaging	Het
Igdcc4	A	G	9: 65,031,297 (GRCm39)	T459A	possibly damaging	Het
Itgad	A	T	7: 127,803,797 (GRCm39)	I64F	probably damaging	Het
Itgb2l	T	A	16: 96,238,649 (GRCm39)	N50I	probably damaging	Het
Kif13a	A	G	13: 46,962,531 (GRCm39)	I478T	probably damaging	Het
Krt31	G	A	11: 99,940,983 (GRCm39)	T109I	probably benign	Het
Ltbr	G	T	6: 125,284,437 (GRCm39)		probably null	Het
Magel2	A	G	7: 62,030,372 (GRCm39)	D1092G	unknown	Het
Minar1	T	C	9: 89,483,705 (GRCm39)	H564R	probably benign	Het
Mindy3	A	T	2: 12,401,024 (GRCm39)	N231K	probably damaging	Het
Mpnd	T	G	17: 56,319,362 (GRCm39)		probably benign	Het
Mtus2	C	T	5: 148,014,226 (GRCm39)	L340F	probably benign	Het
Nanog	G	A	6: 122,684,865 (GRCm39)	A17T	possibly damaging	Het
Ndufa9	G	T	6: 126,813,283 (GRCm39)	A181E	probably damaging	Het
Or52z14	T	G	7: 103,253,581 (GRCm39)	L240R	probably benign	Het
Or7e175	A	T	9: 20,048,858 (GRCm39)	I149F	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,059,755 (GRCm39)		probably benign	Het
Pramel18	T	C	4: 101,766,367 (GRCm39)	V17A	possibly damaging	Het
Prkacb	T	C	3: 146,453,732 (GRCm39)	I211V	possibly damaging	Het
Ptpn14	C	G	1: 189,583,474 (GRCm39)	L774V	probably benign	Het
Rad1	T	C	15: 10,492,848 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,573,028 (GRCm39)	P391Q	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sf3b3	C	T	8: 111,542,961 (GRCm39)	R832Q	probably benign	Het
Slc12a2	A	G	18: 58,068,035 (GRCm39)	D975G	possibly damaging	Het
Slitrk6	A	G	14: 110,987,811 (GRCm39)	L632P	probably damaging	Het
Spire2	A	G	8: 124,095,523 (GRCm39)	D542G	possibly damaging	Het
Sppl3	A	T	5: 115,220,373 (GRCm39)	Q95L	probably damaging	Het
Stat5b	C	A	11: 100,675,080 (GRCm39)	E710*	probably null	Het
Tcl1	G	T	12: 105,188,872 (GRCm39)	H14N	probably damaging	Het
Ten1	T	C	11: 116,096,555 (GRCm39)	F70L	probably benign	Het
Tnfrsf13b	A	T	11: 61,031,763 (GRCm39)	T35S	possibly damaging	Het
Tpcn2	G	A	7: 144,821,046 (GRCm39)	P336L	probably benign	Het
Trf	C	A	9: 103,105,247 (GRCm39)	D22Y	probably damaging	Het
Ttyh1	A	G	7: 4,136,943 (GRCm39)		probably benign	Het
Vmn2r103	A	T	17: 20,032,031 (GRCm39)	I602F	probably benign	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp352	A	G	4: 90,112,541 (GRCm39)	Y227C	probably damaging	Het
Zfp599	A	T	9: 22,169,419 (GRCm39)	W18R	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
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
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'- TTACTGCTGGATCCTCGATGG -3'
(R):5'- TGATTGACCAGCAGCACCAG -3'

Sequencing Primer
(F):5'- TCGATGGCTCTGCACCAAC -3'
(R):5'- AGCAACTCAGCCCCGCG -3'

Posted On

2016-04-15