Incidental Mutation 'R5940:Alpk1'
ID 462473
Institutional Source Beutler Lab
Gene Symbol Alpk1
Ensembl Gene ENSMUSG00000028028
Gene Name alpha-kinase 1
Synonyms 8430410J10Rik
MMRRC Submission 044132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5940 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 127463959-127574176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 127464595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 1228 (T1228P)
Ref Sequence ENSEMBL: ENSMUSP00000143223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029662] [ENSMUST00000198955]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029662
AA Change: T1228P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: T1228P

DomainStartEndE-ValueType
low complexity region 85 97 N/A INTRINSIC
low complexity region 618 628 N/A INTRINSIC
low complexity region 700 714 N/A INTRINSIC
low complexity region 902 914 N/A INTRINSIC
low complexity region 924 947 N/A INTRINSIC
Alpha_kinase 1008 1215 1.03e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160586
Predicted Effect probably benign
Transcript: ENSMUST00000198955
AA Change: T1228P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: T1228P

DomainStartEndE-ValueType
low complexity region 85 97 N/A INTRINSIC
low complexity region 618 628 N/A INTRINSIC
low complexity region 700 714 N/A INTRINSIC
low complexity region 902 914 N/A INTRINSIC
low complexity region 924 947 N/A INTRINSIC
Alpha_kinase 1008 1215 1.03e-81 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (88/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Aasdh G T 5: 77,030,745 (GRCm39) S618R probably benign Het
Ank3 T C 10: 69,756,316 (GRCm39) V850A probably benign Het
Apeh A T 9: 107,969,098 (GRCm39) probably null Het
Ash1l C T 3: 88,891,343 (GRCm39) T1074I probably damaging Het
C3 G A 17: 57,517,244 (GRCm39) S1297F possibly damaging Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cd93 A T 2: 148,284,152 (GRCm39) I398N probably benign Het
Cdcp3 A T 7: 130,839,992 (GRCm39) D638V probably damaging Het
Chrd G T 16: 20,553,336 (GRCm39) R226L probably null Het
Clvs1 A T 4: 9,449,443 (GRCm39) N344I possibly damaging Het
Cyp4v3 A T 8: 45,774,821 (GRCm39) I111N probably damaging Het
Cysltr2 T A 14: 73,267,389 (GRCm39) Y107F probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Czib A G 4: 107,750,485 (GRCm39) probably benign Het
Defb47 A T 14: 63,238,359 (GRCm39) E28D probably benign Het
Dnajc30 T A 5: 135,093,413 (GRCm39) Y103* probably null Het
Drap1 T C 19: 5,473,028 (GRCm39) T160A probably benign Het
Dsp A G 13: 38,380,002 (GRCm39) E2249G possibly damaging Het
E2f8 T A 7: 48,520,825 (GRCm39) I499F probably benign Het
Ebf1 T A 11: 44,512,048 (GRCm39) Y116N probably damaging Het
Ecrg4 C T 1: 43,776,401 (GRCm39) R41* probably null Het
Ect2 C A 3: 27,169,614 (GRCm39) E746D probably benign Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Fat4 T C 3: 38,943,798 (GRCm39) V897A probably benign Het
Gja3 T A 14: 57,273,317 (GRCm39) S352C probably damaging Het
Gpr153 C A 4: 152,367,832 (GRCm39) P561Q probably benign Het
Hlcs T C 16: 93,935,571 (GRCm39) M574V probably damaging Het
Hmcn1 A G 1: 150,532,973 (GRCm39) V3070A probably benign Het
Hsd3b2 G T 3: 98,619,287 (GRCm39) N219K probably benign Het
Htra3 T C 5: 35,810,324 (GRCm39) I453V possibly damaging Het
Klrc1 A T 6: 129,651,898 (GRCm39) M220K possibly damaging Het
Kntc1 T G 5: 123,924,258 (GRCm39) I1048S probably benign Het
Lrrc37 T C 11: 103,504,712 (GRCm39) S243G probably benign Het
Macf1 T A 4: 123,326,674 (GRCm39) D2822V probably damaging Het
Mcu T A 10: 59,292,554 (GRCm39) I42F possibly damaging Het
Mkln1 T A 6: 31,466,307 (GRCm39) D521E probably damaging Het
Ms4a13 T C 19: 11,170,330 (GRCm39) N5D possibly damaging Het
Msh3 T G 13: 92,386,351 (GRCm39) N838T probably damaging Het
Msl2 T A 9: 100,978,290 (GRCm39) C221* probably null Het
Ncapd2 A G 6: 125,145,832 (GRCm39) S1310P probably benign Het
Ncoa6 A T 2: 155,257,785 (GRCm39) M586K probably damaging Het
Ndel1 C T 11: 68,713,397 (GRCm39) probably benign Het
Ndst4 T C 3: 125,355,068 (GRCm39) probably benign Het
Nes T G 3: 87,883,259 (GRCm39) V506G probably damaging Het
Nrg1 T C 8: 32,339,372 (GRCm39) K200E probably damaging Het
Nt5c1b A G 12: 10,425,515 (GRCm39) K295E probably damaging Het
Or4f54 G A 2: 111,122,729 (GRCm39) V39M possibly damaging Het
Or5b123 T A 19: 13,596,517 (GRCm39) probably null Het
Or6s1 T A 14: 51,308,179 (GRCm39) I224L probably damaging Het
Or8b4 C T 9: 37,830,733 (GRCm39) T260I probably damaging Het
Or8g51 G T 9: 38,609,007 (GRCm39) Y218* probably null Het
Or8k38 A T 2: 86,488,394 (GRCm39) M136K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde1a A G 2: 79,718,183 (GRCm39) probably null Het
Pds5a A G 5: 65,801,328 (GRCm39) probably benign Het
Plbd1 A T 6: 136,590,719 (GRCm39) probably benign Het
Plod2 T A 9: 92,473,450 (GRCm39) V292E probably benign Het
Polg A G 7: 79,103,819 (GRCm39) V879A possibly damaging Het
Ppargc1a C T 5: 51,631,253 (GRCm39) A459T probably damaging Het
Prorp T A 12: 55,351,659 (GRCm39) W323R probably damaging Het
Psip1 T C 4: 83,394,559 (GRCm39) E83G probably damaging Het
Rhbdf1 T C 11: 32,159,847 (GRCm39) D843G probably benign Het
Rnpepl1 G T 1: 92,845,434 (GRCm39) C451F probably damaging Het
Rrp1 T C 10: 78,241,249 (GRCm39) D206G probably damaging Het
Setbp1 A T 18: 78,798,703 (GRCm39) D1492E probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a6 C T 11: 109,364,022 (GRCm39) probably benign Homo
Slc7a6os A G 8: 106,937,437 (GRCm39) S37P probably damaging Het
Tenm4 T A 7: 96,495,102 (GRCm39) S1140T probably damaging Het
Thoc6 C A 17: 23,889,315 (GRCm39) R115L probably benign Het
Tmem63c C T 12: 87,121,946 (GRCm39) H385Y probably benign Het
Trpm8 G T 1: 88,279,137 (GRCm39) E649* probably null Het
Usf1 A G 1: 171,245,347 (GRCm39) E253G possibly damaging Het
Vps13d T C 4: 144,801,545 (GRCm39) T443A probably benign Het
Wdr86 T C 5: 24,927,660 (GRCm39) Y93C probably damaging Het
Zfp597 A T 16: 3,683,685 (GRCm39) I357N probably damaging Het
Zfp709 A G 8: 72,644,064 (GRCm39) I497V possibly damaging Het
Zxdc T C 6: 90,347,307 (GRCm39) S223P probably damaging Het
Other mutations in Alpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Alpk1 APN 3 127,474,692 (GRCm39) missense probably damaging 1.00
IGL00722:Alpk1 APN 3 127,473,862 (GRCm39) missense probably benign 0.00
IGL01066:Alpk1 APN 3 127,473,874 (GRCm39) missense probably benign 0.22
IGL01351:Alpk1 APN 3 127,466,011 (GRCm39) missense probably damaging 0.97
IGL01412:Alpk1 APN 3 127,473,621 (GRCm39) missense possibly damaging 0.60
IGL01469:Alpk1 APN 3 127,471,401 (GRCm39) splice site probably null
IGL01585:Alpk1 APN 3 127,473,462 (GRCm39) missense probably benign 0.01
IGL02308:Alpk1 APN 3 127,522,931 (GRCm39) missense probably damaging 0.99
IGL02325:Alpk1 APN 3 127,473,552 (GRCm39) missense probably benign 0.43
IGL02458:Alpk1 APN 3 127,474,968 (GRCm39) critical splice donor site probably null
IGL02553:Alpk1 APN 3 127,466,970 (GRCm39) missense probably damaging 1.00
IGL02717:Alpk1 APN 3 127,474,749 (GRCm39) missense possibly damaging 0.76
IGL02729:Alpk1 APN 3 127,474,721 (GRCm39) missense possibly damaging 0.87
IGL02832:Alpk1 APN 3 127,473,592 (GRCm39) missense possibly damaging 0.63
IGL02892:Alpk1 APN 3 127,473,771 (GRCm39) missense possibly damaging 0.92
IGL03178:Alpk1 APN 3 127,473,870 (GRCm39) nonsense probably null
R0427:Alpk1 UTSW 3 127,464,720 (GRCm39) missense probably damaging 1.00
R0981:Alpk1 UTSW 3 127,473,051 (GRCm39) missense possibly damaging 0.62
R1174:Alpk1 UTSW 3 127,474,459 (GRCm39) missense probably damaging 0.99
R1793:Alpk1 UTSW 3 127,471,447 (GRCm39) missense probably damaging 1.00
R1859:Alpk1 UTSW 3 127,474,749 (GRCm39) missense possibly damaging 0.76
R2173:Alpk1 UTSW 3 127,477,239 (GRCm39) missense probably damaging 1.00
R2235:Alpk1 UTSW 3 127,474,569 (GRCm39) missense probably benign 0.01
R2373:Alpk1 UTSW 3 127,473,457 (GRCm39) missense probably benign 0.00
R3803:Alpk1 UTSW 3 127,473,486 (GRCm39) missense possibly damaging 0.93
R3927:Alpk1 UTSW 3 127,471,365 (GRCm39) missense probably damaging 1.00
R4356:Alpk1 UTSW 3 127,523,022 (GRCm39) missense probably damaging 0.98
R4357:Alpk1 UTSW 3 127,523,022 (GRCm39) missense probably damaging 0.98
R4358:Alpk1 UTSW 3 127,523,022 (GRCm39) missense probably damaging 0.98
R4379:Alpk1 UTSW 3 127,523,022 (GRCm39) missense probably damaging 0.98
R4381:Alpk1 UTSW 3 127,523,022 (GRCm39) missense probably damaging 0.98
R4470:Alpk1 UTSW 3 127,473,175 (GRCm39) missense probably damaging 1.00
R4471:Alpk1 UTSW 3 127,473,175 (GRCm39) missense probably damaging 1.00
R4473:Alpk1 UTSW 3 127,473,667 (GRCm39) missense probably damaging 0.97
R4474:Alpk1 UTSW 3 127,473,667 (GRCm39) missense probably damaging 0.97
R4476:Alpk1 UTSW 3 127,473,667 (GRCm39) missense probably damaging 0.97
R4512:Alpk1 UTSW 3 127,478,120 (GRCm39) intron probably benign
R4594:Alpk1 UTSW 3 127,477,203 (GRCm39) missense probably damaging 1.00
R4678:Alpk1 UTSW 3 127,473,507 (GRCm39) missense probably damaging 0.99
R4707:Alpk1 UTSW 3 127,481,241 (GRCm39) missense possibly damaging 0.50
R4784:Alpk1 UTSW 3 127,481,241 (GRCm39) missense possibly damaging 0.50
R4785:Alpk1 UTSW 3 127,481,241 (GRCm39) missense possibly damaging 0.50
R4820:Alpk1 UTSW 3 127,464,708 (GRCm39) missense probably benign 0.06
R4887:Alpk1 UTSW 3 127,467,124 (GRCm39) missense probably damaging 1.00
R5088:Alpk1 UTSW 3 127,478,969 (GRCm39) splice site probably benign
R5169:Alpk1 UTSW 3 127,464,750 (GRCm39) missense probably damaging 1.00
R5280:Alpk1 UTSW 3 127,474,813 (GRCm39) missense probably benign 0.00
R5351:Alpk1 UTSW 3 127,522,941 (GRCm39) missense probably damaging 0.96
R5478:Alpk1 UTSW 3 127,471,368 (GRCm39) missense probably damaging 1.00
R5627:Alpk1 UTSW 3 127,474,296 (GRCm39) missense probably damaging 0.99
R5781:Alpk1 UTSW 3 127,473,684 (GRCm39) missense possibly damaging 0.92
R5842:Alpk1 UTSW 3 127,474,618 (GRCm39) missense probably damaging 1.00
R5847:Alpk1 UTSW 3 127,473,723 (GRCm39) missense probably benign 0.06
R6187:Alpk1 UTSW 3 127,466,991 (GRCm39) missense probably damaging 1.00
R6306:Alpk1 UTSW 3 127,479,965 (GRCm39) missense probably damaging 1.00
R6414:Alpk1 UTSW 3 127,473,858 (GRCm39) missense probably benign
R6701:Alpk1 UTSW 3 127,522,985 (GRCm39) missense probably damaging 1.00
R6735:Alpk1 UTSW 3 127,518,098 (GRCm39) missense probably damaging 1.00
R6850:Alpk1 UTSW 3 127,523,012 (GRCm39) missense possibly damaging 0.87
R7173:Alpk1 UTSW 3 127,478,024 (GRCm39) nonsense probably null
R7258:Alpk1 UTSW 3 127,518,115 (GRCm39) missense probably damaging 1.00
R7412:Alpk1 UTSW 3 127,489,382 (GRCm39) missense probably damaging 1.00
R7412:Alpk1 UTSW 3 127,466,143 (GRCm39) missense probably damaging 1.00
R7498:Alpk1 UTSW 3 127,473,427 (GRCm39) missense probably benign 0.22
R7635:Alpk1 UTSW 3 127,489,310 (GRCm39) missense probably benign 0.01
R7660:Alpk1 UTSW 3 127,474,616 (GRCm39) missense probably damaging 1.00
R7682:Alpk1 UTSW 3 127,466,195 (GRCm39) missense possibly damaging 0.94
R7732:Alpk1 UTSW 3 127,478,041 (GRCm39) missense
R7827:Alpk1 UTSW 3 127,473,700 (GRCm39) missense probably benign 0.00
R8029:Alpk1 UTSW 3 127,522,934 (GRCm39) missense possibly damaging 0.95
R8383:Alpk1 UTSW 3 127,518,085 (GRCm39) missense probably benign 0.41
R8478:Alpk1 UTSW 3 127,522,961 (GRCm39) missense probably damaging 1.00
R8765:Alpk1 UTSW 3 127,466,118 (GRCm39) missense probably damaging 1.00
R8816:Alpk1 UTSW 3 127,478,024 (GRCm39) nonsense probably null
R8907:Alpk1 UTSW 3 127,474,642 (GRCm39) nonsense probably null
R8972:Alpk1 UTSW 3 127,473,232 (GRCm39) missense probably damaging 1.00
R8974:Alpk1 UTSW 3 127,473,580 (GRCm39) missense probably benign 0.03
R9039:Alpk1 UTSW 3 127,473,192 (GRCm39) missense probably damaging 1.00
R9202:Alpk1 UTSW 3 127,479,938 (GRCm39) missense
R9394:Alpk1 UTSW 3 127,466,187 (GRCm39) missense probably damaging 1.00
R9421:Alpk1 UTSW 3 127,467,069 (GRCm39) missense probably damaging 1.00
R9436:Alpk1 UTSW 3 127,478,924 (GRCm39) missense
R9785:Alpk1 UTSW 3 127,473,594 (GRCm39) missense probably benign 0.22
Z1176:Alpk1 UTSW 3 127,467,087 (GRCm39) missense probably damaging 1.00
Z1177:Alpk1 UTSW 3 127,478,956 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGCAACAGTATCAGCTTTTACAGG -3'
(R):5'- TGGAAAAGGCCTGATCTATCTC -3'

Sequencing Primer
(F):5'- ATCTTTTCCTGGCAAGCAAGG -3'
(R):5'- AAGGCCTGATCTATCTCACGGATC -3'
Posted On 2017-02-28