Incidental Mutation 'R7249:Pskh1'
ID 563760
Institutional Source Beutler Lab
Gene Symbol Pskh1
Ensembl Gene ENSMUSG00000048310
Gene Name protein serine kinase H1
Synonyms E130013P03Rik, b2b1230Clo
MMRRC Submission 045312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106627106-106658434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106639886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 189 (S189P)
Ref Sequence ENSEMBL: ENSMUSP00000061700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049699]
AlphaFold Q91YA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049699
AA Change: S189P

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: S189P

DomainStartEndE-ValueType
S_TKc 98 355 1.22e-100 SMART
low complexity region 378 417 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit situs inversus totalis with variable congenital heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,974,970 (GRCm39) T38A probably benign Het
3425401B19Rik G T 14: 32,385,271 (GRCm39) S231R possibly damaging Het
Abi1 T C 2: 22,847,101 (GRCm39) E250G possibly damaging Het
Actl6b T A 5: 137,553,347 (GRCm39) S120T probably damaging Het
Adgrv1 G A 13: 81,522,378 (GRCm39) H5920Y probably damaging Het
Adra2c G A 5: 35,438,299 (GRCm39) R357H probably damaging Het
Ap3d1 T C 10: 80,577,767 (GRCm39) D20G probably damaging Het
Arfgef3 A T 10: 18,506,583 (GRCm39) D847E possibly damaging Het
Cacna1d T C 14: 29,864,660 (GRCm39) E434G probably damaging Het
Carm1 T C 9: 21,497,505 (GRCm39) Y356H probably benign Het
Clip1 T C 5: 123,741,663 (GRCm39) K1075R probably damaging Het
Cyp27b1 G T 10: 126,886,918 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,113,885 (GRCm39) V1769D possibly damaging Het
Dchs2 C T 3: 83,035,336 (GRCm39) Q28* probably null Het
Dpp4 A G 2: 62,215,547 (GRCm39) F107L probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Faap24 A G 7: 35,094,485 (GRCm39) V105A probably benign Het
Gabra6 A T 11: 42,208,259 (GRCm39) D166E probably damaging Het
Gfpt1 A G 6: 87,033,126 (GRCm39) E117G probably damaging Het
H2-T10 T C 17: 36,430,269 (GRCm39) D224G probably damaging Het
Hspa12a T A 19: 58,793,865 (GRCm39) E332V probably benign Het
Htr5b T A 1: 121,438,203 (GRCm39) N343Y probably damaging Het
Irf8 C A 8: 121,466,571 (GRCm39) N5K possibly damaging Het
Itgb1 C A 8: 129,446,885 (GRCm39) Q467K probably benign Het
Itpr2 C A 6: 146,212,550 (GRCm39) C1522F probably damaging Het
Jmjd1c T A 10: 67,025,596 (GRCm39) L138I probably benign Het
Lrrc8b G T 5: 105,629,133 (GRCm39) R493L probably benign Het
Malrd1 G T 2: 15,628,151 (GRCm39) C400F probably damaging Het
Marchf8 G A 6: 116,383,195 (GRCm39) E257K probably benign Het
Mastl G A 2: 23,036,151 (GRCm39) H122Y probably damaging Het
Mis18a T C 16: 90,523,202 (GRCm39) K98R possibly damaging Het
Msra A G 14: 64,678,212 (GRCm39) V28A probably benign Het
Mtmr7 A G 8: 41,043,520 (GRCm39) V177A probably benign Het
Nelfcd T C 2: 174,264,999 (GRCm39) probably null Het
Nemp1 T C 10: 127,529,395 (GRCm39) S226P probably damaging Het
Nmnat1 G A 4: 149,554,099 (GRCm39) T147I probably null Het
Ntng2 A G 2: 29,118,004 (GRCm39) V148A probably benign Het
Nup214 A G 2: 31,878,245 (GRCm39) H304R possibly damaging Het
Or4a2 T C 2: 89,248,217 (GRCm39) Y180C probably damaging Het
Phldb2 C A 16: 45,621,977 (GRCm39) A623S probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkn3 G A 2: 29,974,773 (GRCm39) R429Q probably benign Het
Plcb4 A G 2: 135,849,741 (GRCm39) probably null Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnp G A 14: 51,188,887 (GRCm39) V227I probably benign Het
Rbpms2 T G 9: 65,556,632 (GRCm39) V24G probably damaging Het
Robo3 T A 9: 37,336,129 (GRCm39) I446L probably benign Het
Septin8 A T 11: 53,425,949 (GRCm39) K174I probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slco4a1 A G 2: 180,106,604 (GRCm39) Y262C probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spidr T C 16: 15,784,512 (GRCm39) S519G probably benign Het
Ssx2ip A G 3: 146,132,193 (GRCm39) N218S possibly damaging Het
Svil T C 18: 5,056,270 (GRCm39) V381A probably benign Het
Svil T C 18: 5,062,247 (GRCm39) S769P probably damaging Het
Tep1 A T 14: 51,061,732 (GRCm39) C2595S possibly damaging Het
Tiam1 T C 16: 89,640,143 (GRCm39) Y858C probably damaging Het
Tie1 A G 4: 118,343,425 (GRCm39) V146A probably benign Het
Traf3ip1 G T 1: 91,455,361 (GRCm39) E578D probably damaging Het
Trim23 A G 13: 104,324,663 (GRCm39) Y247C probably damaging Het
Tsc2 A G 17: 24,826,729 (GRCm39) W896R probably damaging Het
Vmn1r157 T C 7: 22,461,125 (GRCm39) S2P probably benign Het
Xkr4 T A 1: 3,287,033 (GRCm39) T386S probably damaging Het
Zdhhc24 T G 19: 4,928,889 (GRCm39) V38G possibly damaging Het
Other mutations in Pskh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:Pskh1 APN 8 106,639,836 (GRCm39) missense probably damaging 1.00
IGL02493:Pskh1 APN 8 106,656,388 (GRCm39) missense probably benign 0.01
R0800:Pskh1 UTSW 8 106,640,238 (GRCm39) missense probably damaging 1.00
R1602:Pskh1 UTSW 8 106,639,453 (GRCm39) missense probably benign 0.06
R1656:Pskh1 UTSW 8 106,656,389 (GRCm39) missense possibly damaging 0.89
R2314:Pskh1 UTSW 8 106,640,145 (GRCm39) missense probably damaging 0.99
R4296:Pskh1 UTSW 8 106,639,536 (GRCm39) missense probably benign 0.00
R5463:Pskh1 UTSW 8 106,639,464 (GRCm39) missense probably benign 0.13
R5477:Pskh1 UTSW 8 106,656,511 (GRCm39) missense probably damaging 0.99
R5875:Pskh1 UTSW 8 106,639,731 (GRCm39) missense possibly damaging 0.66
R6249:Pskh1 UTSW 8 106,639,617 (GRCm39) missense possibly damaging 0.56
R7855:Pskh1 UTSW 8 106,639,722 (GRCm39) missense probably benign 0.15
R8065:Pskh1 UTSW 8 106,656,487 (GRCm39) missense possibly damaging 0.70
R8156:Pskh1 UTSW 8 106,640,226 (GRCm39) missense probably benign 0.26
R8691:Pskh1 UTSW 8 106,639,833 (GRCm39) missense probably damaging 1.00
R8817:Pskh1 UTSW 8 106,656,352 (GRCm39) missense probably damaging 1.00
R9157:Pskh1 UTSW 8 106,640,142 (GRCm39) missense possibly damaging 0.90
R9396:Pskh1 UTSW 8 106,640,091 (GRCm39) missense possibly damaging 0.66
R9493:Pskh1 UTSW 8 106,639,598 (GRCm39) nonsense probably null
R9745:Pskh1 UTSW 8 106,656,404 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- CAGCTTTAGCCGAGTGGTAC -3'
(R):5'- CATCAGGCAGTCGTCACCTTTC -3'

Sequencing Primer
(F):5'- AGTGGTACGTGTGGAGCACC -3'
(R):5'- AGTCGTCACCTTTCTTCCGGG -3'
Posted On 2019-06-26