Incidental Mutation 'R7635:Alpk1'
ID 589864
Institutional Source Beutler Lab
Gene Symbol Alpk1
Ensembl Gene ENSMUSG00000028028
Gene Name alpha-kinase 1
Synonyms 8430410J10Rik
MMRRC Submission 045694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7635 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 127463959-127574176 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127489310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000029662 (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: V123A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029662
Gene: ENSMUSG00000028028
AA Change: V123A

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 probably benign
Transcript: ENSMUST00000198955
AA Change: V123A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143223
Gene: ENSMUSG00000028028
AA Change: V123A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A C 9: 108,274,605 (GRCm39) D236A probably damaging Het
Adamts7 C T 9: 90,077,298 (GRCm39) P1322S probably damaging Het
AI661453 A T 17: 47,778,676 (GRCm39) T801S unknown Het
Ap2b1 T C 11: 83,280,554 (GRCm39) V827A probably benign Het
Aqp5 T A 15: 99,492,059 (GRCm39) I219N probably benign Het
Astn1 G A 1: 158,495,105 (GRCm39) W1051* probably null Het
Atp8b1 T C 18: 64,706,376 (GRCm39) D211G possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Bsn A G 9: 107,988,189 (GRCm39) V2521A unknown Het
Car7 T C 8: 105,275,069 (GRCm39) V169A probably damaging Het
Catip T A 1: 74,408,121 (GRCm39) D484E unknown Het
Ccdc18 T C 5: 108,376,915 (GRCm39) probably null Het
Cdyl T C 13: 36,055,634 (GRCm39) V518A probably damaging Het
Cep350 A T 1: 155,754,767 (GRCm39) C1949* probably null Het
Cinp A G 12: 110,850,447 (GRCm39) V18A possibly damaging Het
Clec14a A G 12: 58,315,314 (GRCm39) C103R probably damaging Het
Cplane1 A G 15: 8,256,404 (GRCm39) I1955V probably benign Het
Dnah8 G C 17: 31,004,081 (GRCm39) E3655Q probably damaging Het
Dnajc11 T C 4: 152,053,068 (GRCm39) I164T probably damaging Het
Dnajc13 A T 9: 104,039,566 (GRCm39) M2101K probably benign Het
Ephb4 A G 5: 137,370,365 (GRCm39) D864G probably damaging Het
Fads2b T A 2: 85,330,581 (GRCm39) H242L probably benign Het
Fkbp5 T C 17: 28,647,335 (GRCm39) T167A probably benign Het
Foxf2 C A 13: 31,810,087 (GRCm39) P9T unknown Het
Frmpd2 C A 14: 33,222,920 (GRCm39) H105N possibly damaging Het
Gal3st3 C A 19: 5,357,434 (GRCm39) R270S probably damaging Het
Galnt13 A G 2: 54,747,829 (GRCm39) I237V probably damaging Het
Gata5 G T 2: 179,975,790 (GRCm39) Q125K possibly damaging Het
Gm10036 T A 18: 15,966,346 (GRCm39) F166I possibly damaging Het
Gon4l A G 3: 88,802,413 (GRCm39) N1008S probably benign Het
Got1l1 G A 8: 27,687,962 (GRCm39) L356F probably damaging Het
Gse1 A G 8: 121,299,634 (GRCm39) E888G unknown Het
Hmx1 C A 5: 35,549,583 (GRCm39) P292Q possibly damaging Het
Igkv7-33 A T 6: 70,036,138 (GRCm39) S16T probably benign Het
Itga2b C T 11: 102,352,582 (GRCm39) G424D probably damaging Het
Itga6 A T 2: 71,673,577 (GRCm39) K870N probably benign Het
Lama4 A T 10: 38,968,184 (GRCm39) Q1442L probably benign Het
Lamc1 C T 1: 153,124,806 (GRCm39) R655H probably damaging Het
Lclat1 C T 17: 73,468,931 (GRCm39) S37L probably benign Het
Lrp1b A G 2: 41,013,609 (GRCm39) probably null Het
Map3k20 T C 2: 72,232,348 (GRCm39) S335P probably benign Het
Micu3 A G 8: 40,819,275 (GRCm39) D318G possibly damaging Het
Mmp16 T C 4: 18,054,382 (GRCm39) I296T probably benign Het
Mmp20 A T 9: 7,639,335 (GRCm39) I168L probably benign Het
Mpp3 T C 11: 101,916,209 (GRCm39) K48E probably damaging Het
Muc5ac A T 7: 141,359,490 (GRCm39) T1317S possibly damaging Het
Muc5ac A T 7: 141,359,413 (GRCm39) D1291V probably damaging Het
Myl10 A T 5: 136,729,718 (GRCm39) M119L probably benign Het
Myo5b T A 18: 74,713,467 (GRCm39) V104E probably damaging Het
Nek10 G A 14: 14,850,932 (GRCm38) V326M probably benign Het
Or11l3 T A 11: 58,515,990 (GRCm39) E107D unknown Het
Or6c2 A T 10: 129,362,551 (GRCm39) M152L probably benign Het
Or6z1 G A 7: 6,504,581 (GRCm39) L221F probably benign Het
Pcnx1 A G 12: 81,965,899 (GRCm39) T161A Het
Peg10 T C 6: 4,754,938 (GRCm39) S240P probably damaging Het
Pex6 G A 17: 47,034,943 (GRCm39) V822M probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Pld5 A T 1: 175,821,416 (GRCm39) probably null Het
Plxna4 A G 6: 32,473,676 (GRCm39) V447A probably damaging Het
Pou2af1 T C 9: 51,144,283 (GRCm39) S66P probably benign Het
Pramel26 T C 4: 143,536,987 (GRCm39) E448G probably damaging Het
Prl2c2 T C 13: 13,171,928 (GRCm39) D147G probably damaging Het
Prune1 A G 3: 95,162,596 (GRCm39) L359P probably damaging Het
Rab4b A T 7: 26,875,642 (GRCm39) V13E probably damaging Het
Rbbp6 T G 7: 122,575,231 (GRCm39) V80G possibly damaging Het
Reep5 C T 18: 34,482,853 (GRCm39) G119S possibly damaging Het
Rem1 G C 2: 152,476,585 (GRCm39) R281P probably damaging Het
Rnf215 C T 11: 4,089,989 (GRCm39) R309C probably damaging Het
Scn4a C A 11: 106,215,458 (GRCm39) V1173F probably damaging Het
Serpine3 A T 14: 62,910,464 (GRCm39) I186F possibly damaging Het
Slc7a1 A G 5: 148,289,046 (GRCm39) V67A probably damaging Het
Smco2 A T 6: 146,761,507 (GRCm39) E142V possibly damaging Het
Spata25 G A 2: 164,669,889 (GRCm39) P41S probably benign Het
Specc1l A G 10: 75,112,638 (GRCm39) D955G probably damaging Het
Spns3 C T 11: 72,429,860 (GRCm39) probably null Het
Sptbn2 C T 19: 4,794,235 (GRCm39) R1480C probably damaging Het
Taf1a T C 1: 183,189,253 (GRCm39) probably null Het
Tas2r107 G T 6: 131,636,563 (GRCm39) T162K possibly damaging Het
Tcea1 T C 1: 4,959,774 (GRCm39) S139P probably benign Het
Tecta C T 9: 42,242,283 (GRCm39) V2102I probably benign Het
Tmem131 A T 1: 36,911,629 (GRCm39) I106K probably damaging Het
Tpbpb A G 13: 61,049,925 (GRCm39) V68A probably benign Het
Ttc27 A T 17: 75,025,710 (GRCm39) N61I probably benign Het
Ttn T C 2: 76,580,021 (GRCm39) N23624S probably damaging Het
Tut7 T C 13: 59,947,904 (GRCm39) K806E probably benign Het
Usp2 T C 9: 43,978,519 (GRCm39) probably null Het
Vmn1r10 A G 6: 57,091,026 (GRCm39) H206R probably benign Het
Vmn1r234 T C 17: 21,449,479 (GRCm39) I131T probably damaging Het
Vwf G T 6: 125,659,697 (GRCm39) R2632L Het
Wdr36 T C 18: 32,983,578 (GRCm39) L443P probably benign Het
Zfp143 T C 7: 109,688,025 (GRCm39) V489A probably benign Het
Zfp383 G A 7: 29,614,696 (GRCm39) R317Q probably damaging Het
Zswim8 A G 14: 20,766,368 (GRCm39) T839A 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
R5940:Alpk1 UTSW 3 127,464,595 (GRCm39) missense probably benign
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
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'- TGAAACCCTTTACGCCAGGC -3'
(R):5'- GTACAGGGCAGCCTTCTTTG -3'

Sequencing Primer
(F):5'- TACGCCAGGCCTTTGTG -3'
(R):5'- CCATCCTTGTCCAGGACT -3'
Posted On 2019-10-24