Incidental Mutation 'R3953:Dipk1b'
ID 308024
Institutional Source Beutler Lab
Gene Symbol Dipk1b
Ensembl Gene ENSMUSG00000036186
Gene Name divergent protein kinase domain 1B
Synonyms PIP49, B230317C12Rik, Fam69b
MMRRC Submission 040830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R3953 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26518469-26526509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26525579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 171 (P171L)
Ref Sequence ENSEMBL: ENSMUSP00000073860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074240] [ENSMUST00000174066]
AlphaFold Q99ML4
Predicted Effect probably benign
Transcript: ENSMUST00000074240
AA Change: P171L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073860
Gene: ENSMUSG00000036186
AA Change: P171L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PIP49_N 22 180 2.18e-90 SMART
Pfam:PIP49_C 197 399 6.4e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153849
Predicted Effect probably benign
Transcript: ENSMUST00000174066
SMART Domains Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 64 88 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181621
Meta Mutation Damage Score 0.0719 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Adgrf1 A G 17: 43,621,098 (GRCm39) N445S probably benign Het
Aldh7a1 C A 18: 56,681,577 (GRCm39) V198L probably damaging Het
Ank2 A T 3: 126,781,809 (GRCm39) D6E probably damaging Het
Arhgap31 A G 16: 38,423,826 (GRCm39) F747L probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cadps T C 14: 12,505,937 (GRCm38) D711G probably damaging Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Cyp4f18 C T 8: 72,754,801 (GRCm39) R148H probably damaging Het
Dennd4a C A 9: 64,759,857 (GRCm39) P321T probably damaging Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dnah2 G A 11: 69,344,929 (GRCm39) T2715M probably damaging Het
Evc2 T C 5: 37,537,931 (GRCm39) probably null Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gucy1a2 T C 9: 3,582,704 (GRCm39) probably benign Het
Gys1 C T 7: 45,089,470 (GRCm39) P274S probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Herc1 C T 9: 66,341,075 (GRCm39) Q1731* probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lnx1 T C 5: 74,766,750 (GRCm39) T455A probably benign Het
Mast2 A T 4: 116,170,926 (GRCm39) H612Q probably damaging Het
Mcm9 G A 10: 53,439,440 (GRCm39) H578Y probably damaging Het
Mefv A G 16: 3,533,264 (GRCm39) S336P possibly damaging Het
Micu1 A T 10: 59,586,326 (GRCm39) H134L probably benign Het
Mrgprb2 C T 7: 48,202,116 (GRCm39) G203D possibly damaging Het
Ncapd2 T C 6: 125,147,697 (GRCm39) I1179V probably damaging Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5b119 G A 19: 13,456,806 (GRCm39) S252L probably benign Het
Pcnx3 A G 19: 5,733,808 (GRCm39) probably benign Het
Pi4ka A G 16: 17,103,145 (GRCm39) probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptprb A G 10: 116,177,399 (GRCm39) N1320S probably benign Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rhobtb2 T C 14: 70,031,488 (GRCm39) T546A possibly damaging Het
Robo1 A G 16: 72,821,226 (GRCm39) D1331G probably damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Slc44a5 A G 3: 153,877,209 (GRCm39) D13G probably benign Het
Slco1a1 A T 6: 141,868,833 (GRCm39) M377K probably damaging Het
St18 T A 1: 6,873,117 (GRCm39) L284Q probably damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tln2 G A 9: 67,277,911 (GRCm39) P368S probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Vps13d A G 4: 144,875,450 (GRCm39) S1686P probably damaging Het
Wdr41 A G 13: 95,133,571 (GRCm39) E75G probably damaging Het
Other mutations in Dipk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01927:Dipk1b APN 2 26,526,127 (GRCm39) missense probably benign 0.00
R0669:Dipk1b UTSW 2 26,524,878 (GRCm39) missense probably benign 0.00
R1912:Dipk1b UTSW 2 26,522,716 (GRCm39) missense probably damaging 1.00
R2258:Dipk1b UTSW 2 26,525,162 (GRCm39) missense probably damaging 0.99
R2760:Dipk1b UTSW 2 26,525,837 (GRCm39) missense probably benign 0.00
R3712:Dipk1b UTSW 2 26,522,650 (GRCm39) missense possibly damaging 0.72
R3956:Dipk1b UTSW 2 26,525,579 (GRCm39) missense probably benign 0.44
R4190:Dipk1b UTSW 2 26,526,193 (GRCm39) missense probably damaging 1.00
R4213:Dipk1b UTSW 2 26,525,960 (GRCm39) missense probably benign 0.05
R5161:Dipk1b UTSW 2 26,526,260 (GRCm39) missense possibly damaging 0.92
R5618:Dipk1b UTSW 2 26,524,887 (GRCm39) missense probably damaging 0.99
R6198:Dipk1b UTSW 2 26,525,710 (GRCm39) missense probably damaging 0.96
R6769:Dipk1b UTSW 2 26,524,875 (GRCm39) missense probably benign 0.00
R6771:Dipk1b UTSW 2 26,524,875 (GRCm39) missense probably benign 0.00
R8934:Dipk1b UTSW 2 26,524,866 (GRCm39) missense possibly damaging 0.93
R9126:Dipk1b UTSW 2 26,525,989 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GAACAGGGCTCAAAGCTAGTGC -3'
(R):5'- TAAGATAGAGGTCCCCGCAGTAG -3'

Sequencing Primer
(F):5'- CTGTGTGCATAGCTGGGAGAAG -3'
(R):5'- CCGCAGTAGCCCAGCAG -3'
Posted On 2015-04-17