Incidental Mutation 'R3956:Dipk1b'
ID 310676
Institutional Source Beutler Lab
Gene Symbol Dipk1b
Ensembl Gene ENSMUSG00000036186
Gene Name divergent protein kinase domain 1B
Synonyms PIP49, B230317C12Rik, Fam69b
MMRRC Submission 040833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R3956 (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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Abca16 A G 7: 120,126,975 (GRCm39) N1221S probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Acsl1 T A 8: 46,987,495 (GRCm39) L693Q probably damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
B3gat1 A G 9: 26,668,324 (GRCm39) T305A possibly damaging Het
BC051076 A G 5: 88,112,110 (GRCm39) noncoding transcript Het
Ccni A G 5: 93,331,263 (GRCm39) L236S probably damaging Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cdc45 A G 16: 18,624,180 (GRCm39) V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Creld1 A G 6: 113,469,190 (GRCm39) D340G possibly damaging Het
Cyrib T C 15: 63,813,823 (GRCm39) Y158C probably damaging Het
Dnah2 T A 11: 69,374,847 (GRCm39) I1417L probably benign Het
Efhc1 A C 1: 21,048,890 (GRCm39) K434N probably damaging Het
Evi5l T C 8: 4,241,358 (GRCm39) V297A possibly damaging Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gfod1 A T 13: 43,354,538 (GRCm39) C146S probably damaging Het
Greb1 G T 12: 16,732,300 (GRCm39) P1554T probably damaging Het
Grip1 A T 10: 119,765,931 (GRCm39) I88F probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2e A G 5: 23,701,023 (GRCm39) T121A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mfsd2b A T 12: 4,916,848 (GRCm39) F194Y probably damaging Het
Mtmr3 A T 11: 4,441,138 (GRCm39) V504E probably damaging Het
Neb C T 2: 52,091,975 (GRCm39) V5030M possibly damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or5ac17 G A 16: 59,036,428 (GRCm39) Q183* probably null Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5al5 C T 2: 85,961,363 (GRCm39) V215I probably benign Het
Pmfbp1 A G 8: 110,256,801 (GRCm39) S502G probably benign Het
Prb1c G T 6: 132,338,814 (GRCm39) Q135K unknown Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Riok3 T A 18: 12,276,031 (GRCm39) Y242* probably null Het
Robo2 T G 16: 73,758,755 (GRCm39) Y672S probably damaging Het
Rsbn1 A G 3: 103,835,991 (GRCm39) H343R probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Spmip9 A G 6: 70,890,469 (GRCm39) Y108H possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tlcd5 C A 9: 43,022,808 (GRCm39) C182F probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Top6bl T A 19: 4,742,525 (GRCm39) T214S probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Umodl1 A G 17: 31,221,837 (GRCm39) T1280A probably benign Het
Xpnpep3 A G 15: 81,335,230 (GRCm39) probably benign 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
R3953: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'- TAAGATAGAGGTCCCCGCAG -3'

Sequencing Primer
(F):5'- CTGTGTGCATAGCTGGGAGAAG -3'
(R):5'- TAGAGGTCCCCGCAGTAGCC -3'
Posted On 2015-04-29