Incidental Mutation 'R4190:Dipk1b'
ID 319901
Institutional Source Beutler Lab
Gene Symbol Dipk1b
Ensembl Gene ENSMUSG00000036186
Gene Name divergent protein kinase domain 1B
Synonyms PIP49, B230317C12Rik, Fam69b
MMRRC Submission 041021-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R4190 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26518469-26526509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26526193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 376 (Y376H)
Ref Sequence ENSEMBL: ENSMUSP00000073860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074240] [ENSMUST00000174066]
AlphaFold Q99ML4
Predicted Effect probably damaging
Transcript: ENSMUST00000074240
AA Change: Y376H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073860
Gene: ENSMUSG00000036186
AA Change: Y376H

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 0.1885 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (50/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Adgre1 A G 17: 57,709,811 (GRCm39) Y156C unknown Het
Ankrd13b G A 11: 77,367,201 (GRCm39) A21V probably damaging Het
Atf7ip T C 6: 136,564,499 (GRCm39) V914A probably damaging Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Calcr T A 6: 3,717,106 (GRCm39) D118V possibly damaging Het
Cdc42bpg T C 19: 6,371,711 (GRCm39) V1330A probably damaging Het
Cfap54 T C 10: 92,720,885 (GRCm39) E2567G unknown Het
Ctse T A 1: 131,590,479 (GRCm39) V67D probably benign Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Fahd2a C T 2: 127,280,486 (GRCm39) V156I probably benign Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Heatr3 T C 8: 88,864,888 (GRCm39) probably benign Het
Herc2 T C 7: 55,772,196 (GRCm39) V1125A probably benign Het
Itga11 T A 9: 62,639,391 (GRCm39) C129S probably damaging Het
Lama2 A G 10: 27,142,660 (GRCm39) L606P probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Mtmr10 G T 7: 63,963,934 (GRCm39) W223L probably benign Het
Nlgn1 T A 3: 25,488,062 (GRCm39) T758S probably benign Het
Nr4a1 T C 15: 101,171,993 (GRCm39) S556P probably damaging Het
Or4c126 C A 2: 89,823,918 (GRCm39) Y60* probably null Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or6c201 T C 10: 128,968,836 (GRCm39) N267S possibly damaging Het
Or6c33 A T 10: 129,853,847 (GRCm39) I206F probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Plscr5 T C 9: 92,080,651 (GRCm39) S46P probably benign Het
Ppp2r3d T C 9: 124,424,123 (GRCm38) probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Sorcs3 T C 19: 48,737,812 (GRCm39) V743A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stab2 G T 10: 86,714,808 (GRCm39) N119K probably damaging Het
Telo2 T C 17: 25,320,987 (GRCm39) T743A probably benign Het
Trav6-1 A G 14: 52,875,976 (GRCm39) N2S probably benign Het
Trmt44 C A 5: 35,732,314 (GRCm39) V26L possibly damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn2r84 A T 10: 130,227,163 (GRCm39) L225* probably null Het
Vmn2r87 A G 10: 130,308,556 (GRCm39) Y561H probably damaging Het
Yars1 T A 4: 129,093,820 (GRCm39) C60* probably null Het
Zfp202 T C 9: 40,122,633 (GRCm39) V465A 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
R3956:Dipk1b UTSW 2 26,525,579 (GRCm39) missense probably benign 0.44
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'- ACTTCAAGATGGCTGACCTG -3'
(R):5'- AACCTGTGAGCTGTAGTGCC -3'

Sequencing Primer
(F):5'- CCTGCAGCAGGTGGCAC -3'
(R):5'- AGCTGTAGTGCCTGGAGC -3'
Posted On 2015-06-10