Incidental Mutation 'R7404:Dapk1'
ID 574452
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 045486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7404 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 60749761-60911005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60867455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 221 (T221A)
Ref Sequence ENSEMBL: ENSMUSP00000076666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044083] [ENSMUST00000077453] [ENSMUST00000226059]
AlphaFold Q80YE7
Predicted Effect probably benign
Transcript: ENSMUST00000044083
AA Change: T221A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: T221A

DomainStartEndE-ValueType
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: T221A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: T221A

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000224789
Predicted Effect probably benign
Transcript: ENSMUST00000226059
AA Change: T221A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,955,099 (GRCm39) A297T probably damaging Het
Adprhl1 T A 8: 13,275,118 (GRCm39) S547C probably damaging Het
Ankrd63 G C 2: 118,533,793 (GRCm39) R43G unknown Het
Asah2 T C 19: 32,035,254 (GRCm39) T24A probably benign Het
Asb17 G A 3: 153,550,447 (GRCm39) probably null Het
Atp8b5 C T 4: 43,342,640 (GRCm39) T437I probably benign Het
Bbs2 T C 8: 94,808,992 (GRCm39) D311G probably damaging Het
Birc6 C T 17: 74,946,789 (GRCm39) T2851I possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cchcr1 T C 17: 35,835,693 (GRCm39) W266R probably benign Het
Col14a1 C A 15: 55,252,024 (GRCm39) S560* probably null Het
Crocc G A 4: 140,753,497 (GRCm39) T1317M possibly damaging Het
Cxxc1 T A 18: 74,352,278 (GRCm39) V334E possibly damaging Het
Cyp3a25 T A 5: 145,923,635 (GRCm39) D336V probably damaging Het
Dnah11 G T 12: 118,068,543 (GRCm39) T1605K probably benign Het
Dnah7c T C 1: 46,705,223 (GRCm39) V2412A possibly damaging Het
Ect2l T A 10: 18,035,529 (GRCm39) D524V probably damaging Het
Ehbp1l1 T C 19: 5,770,872 (GRCm39) E223G possibly damaging Het
Ephb2 A T 4: 136,498,524 (GRCm39) M185K probably damaging Het
Fcer1a T C 1: 173,049,083 (GRCm39) K243E probably damaging Het
Fcgbp T A 7: 27,800,932 (GRCm39) I1326N probably damaging Het
Fgfr1 T C 8: 26,045,566 (GRCm39) V45A probably benign Het
Filip1 T A 9: 79,727,380 (GRCm39) E413V possibly damaging Het
Frs3 T C 17: 48,013,651 (GRCm39) probably null Het
Fstl4 A G 11: 53,024,898 (GRCm39) T257A probably benign Het
Golga5 A T 12: 102,450,778 (GRCm39) K477M probably damaging Het
Gpr171 A T 3: 59,005,622 (GRCm39) I51K probably damaging Het
H1f0 T A 15: 78,913,080 (GRCm39) Y53* probably null Het
Hephl1 A G 9: 14,981,047 (GRCm39) V795A possibly damaging Het
Hmcn1 A T 1: 150,596,510 (GRCm39) D1775E probably benign Het
Hs3st2 A G 7: 121,100,168 (GRCm39) D338G possibly damaging Het
Hsd3b6 T A 3: 98,713,534 (GRCm39) Y255F probably benign Het
Hspa9 T C 18: 35,076,329 (GRCm39) N328D possibly damaging Het
Hvcn1 T A 5: 122,375,748 (GRCm39) I100N probably damaging Het
Ifi207 C T 1: 173,556,494 (GRCm39) S748N possibly damaging Het
Katnip A T 7: 125,464,434 (GRCm39) N1267I probably damaging Het
Kcnma1 G T 14: 24,052,902 (GRCm39) T180K unknown Het
Kctd16 A G 18: 40,391,826 (GRCm39) D138G probably damaging Het
Kifc3 A G 8: 95,830,092 (GRCm39) Y605H probably benign Het
Kmt2d T A 15: 98,743,376 (GRCm39) Q3928L unknown Het
Lamb2 C T 9: 108,364,782 (GRCm39) R1179C probably damaging Het
Layn T A 9: 50,968,670 (GRCm39) I358F possibly damaging Het
Lrig1 G A 6: 94,603,452 (GRCm39) T232M probably damaging Het
Lrp1 T C 10: 127,418,577 (GRCm39) T38A Het
Map3k14 A G 11: 103,129,918 (GRCm39) V333A probably benign Het
Med13 T C 11: 86,177,272 (GRCm39) D1608G possibly damaging Het
Mrps31 T G 8: 22,911,429 (GRCm39) S224A probably benign Het
Msh6 G T 17: 88,282,548 (GRCm39) Het
Ncapd3 A G 9: 26,978,315 (GRCm39) D838G probably benign Het
Nlrp1a C A 11: 70,987,919 (GRCm39) E1184* probably null Het
Npat T A 9: 53,466,233 (GRCm39) probably null Het
Nup210 A T 6: 91,050,227 (GRCm39) I414N probably benign Het
Or1e19 A T 11: 73,316,419 (GRCm39) L130H probably damaging Het
Or52n2 A T 7: 104,542,181 (GRCm39) V218E possibly damaging Het
Or5b122 T A 19: 13,562,752 (GRCm39) I28N possibly damaging Het
Or5h19 T C 16: 58,856,603 (GRCm39) T166A possibly damaging Het
Or6z5 T C 7: 6,477,163 (GRCm39) L18P probably damaging Het
Or8b12c A T 9: 37,715,257 (GRCm39) T17S possibly damaging Het
Or8h7 A C 2: 86,721,217 (GRCm39) L101V probably benign Het
Otud7b G C 3: 96,043,936 (GRCm39) probably null Het
Phf11d A C 14: 59,596,942 (GRCm39) W86G probably benign Het
Pik3c2b T A 1: 133,018,444 (GRCm39) S964T probably damaging Het
Pira1 T C 7: 3,742,344 (GRCm39) Y61C probably damaging Het
Plod3 G A 5: 137,023,901 (GRCm39) V687I probably benign Het
Poglut1 T G 16: 38,358,284 (GRCm39) Y208S possibly damaging Het
Pou1f1 T A 16: 65,330,749 (GRCm39) L253H probably damaging Het
Pou2f1 C T 1: 165,738,955 (GRCm39) A166T unknown Het
Rhbdl3 C T 11: 80,237,659 (GRCm39) S297L probably damaging Het
Rxra A T 2: 27,631,866 (GRCm39) N179I probably damaging Het
Ryr2 C T 13: 11,750,506 (GRCm39) E1922K probably damaging Het
Scube1 T C 15: 83,499,211 (GRCm39) Y668C probably damaging Het
Sec16b A G 1: 157,358,927 (GRCm39) Y120C probably damaging Het
Sec61b G T 4: 47,483,047 (GRCm39) K92N probably damaging Het
Skic3 T A 13: 76,296,866 (GRCm39) Y1074* probably null Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc17a7 T A 7: 44,822,354 (GRCm39) Y397N probably benign Het
Slc25a3 A G 10: 90,952,902 (GRCm39) V333A possibly damaging Het
Slc7a8 A T 14: 54,964,283 (GRCm39) V390E probably damaging Het
Sorbs2 G A 8: 46,212,233 (GRCm39) probably null Het
Srgap1 T C 10: 121,621,650 (GRCm39) N948D probably benign Het
Tacc2 A T 7: 130,225,066 (GRCm39) T584S probably benign Het
Tec A T 5: 72,920,961 (GRCm39) D471E probably damaging Het
Tecpr2 C T 12: 110,898,038 (GRCm39) A430V probably benign Het
Tmcc2 A T 1: 132,288,759 (GRCm39) D309E probably damaging Het
Tmem82 G A 4: 141,344,742 (GRCm39) A67V possibly damaging Het
Ttc23l T C 15: 10,551,663 (GRCm39) Q21R probably damaging Het
Ubl3 A G 5: 148,448,764 (GRCm39) F26L probably damaging Het
Upf2 A G 2: 6,045,014 (GRCm39) E1088G unknown Het
Usp9y T A Y: 1,341,780 (GRCm39) I1362F probably benign Het
Wnk4 T A 11: 101,159,318 (GRCm39) probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfc3h1 T A 10: 115,251,153 (GRCm39) V1248D probably damaging Het
Zfp12 T A 5: 143,226,099 (GRCm39) V56D probably damaging Het
Other mutations in Dapk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTCTGCAAGGACTTGATACTCTTG -3'
(R):5'- TCTGGTCTTGGCCACATGAG -3'

Sequencing Primer
(F):5'- CATAACTGTTCAGTATTCCATGGTG -3'
(R):5'- GGTGTTCCGGAAGAATTC -3'
Posted On 2019-09-13