Incidental Mutation 'R2169:Dipk1a'
ID 235660
Institutional Source Beutler Lab
Gene Symbol Dipk1a
Ensembl Gene ENSMUSG00000029270
Gene Name divergent protein kinase domain 1A
Synonyms Fam69a, 2900024C23Rik
MMRRC Submission 040172-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2169 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108055919-108134951 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 108057325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 411 (L411*)
Ref Sequence ENSEMBL: ENSMUSP00000031198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000145239] [ENSMUST00000153590] [ENSMUST00000153172]
AlphaFold Q9D6I7
Predicted Effect probably null
Transcript: ENSMUST00000031198
AA Change: L411*
SMART Domains Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: L411*

DomainStartEndE-ValueType
PIP49_N 19 177 1.7e-92 SMART
Pfam:PIP49_C 194 396 1.9e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082223
SMART Domains Protein: ENSMUSP00000080854
Gene: ENSMUSG00000058558

DomainStartEndE-ValueType
low complexity region 19 24 N/A INTRINSIC
Pfam:Ribosomal_L18p 26 173 2.1e-46 PFAM
Pfam:Ribosomal_L18_c 192 283 2.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151767
Predicted Effect probably benign
Transcript: ENSMUST00000145239
SMART Domains Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270

DomainStartEndE-ValueType
PIP49_N 1 132 1.18e-45 SMART
Pfam:PIP49_C 149 284 2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153590
SMART Domains Protein: ENSMUSP00000123474
Gene: ENSMUSG00000058558

DomainStartEndE-ValueType
Pfam:Ribosomal_L18p 1 123 6.3e-37 PFAM
Pfam:Ribosomal_L18_c 142 163 2.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153172
SMART Domains Protein: ENSMUSP00000114892
Gene: ENSMUSG00000029270

DomainStartEndE-ValueType
PIP49_N 24 87 1.07e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,622,349 (GRCm39) T606A probably benign Het
Adtrp T A 13: 41,920,905 (GRCm39) S221C possibly damaging Het
Ap1g2 T A 14: 55,336,797 (GRCm39) probably null Het
Arhgef5 A T 6: 43,251,354 (GRCm39) M702L probably benign Het
Axdnd1 A G 1: 156,245,879 (GRCm39) V34A probably damaging Het
Ccdc154 T A 17: 25,389,897 (GRCm39) V509E probably damaging Het
Cttnbp2 C T 6: 18,426,096 (GRCm39) D761N probably benign Het
Ddx18 A T 1: 121,486,138 (GRCm39) probably null Het
Fam241b A T 10: 61,945,745 (GRCm39) I4N probably damaging Het
Gm5800 T C 14: 51,951,135 (GRCm39) K155E possibly damaging Het
Hemgn T A 4: 46,396,417 (GRCm39) H273L possibly damaging Het
Hsp90aa1 A G 12: 110,659,168 (GRCm39) V543A probably damaging Het
Hspa1l A G 17: 35,196,299 (GRCm39) K113E probably benign Het
Hspb2 A G 9: 50,663,015 (GRCm39) I38T probably damaging Het
Htt A T 5: 35,034,819 (GRCm39) E2021D probably benign Het
Lrpprc C T 17: 85,077,505 (GRCm39) R394Q probably benign Het
Lrrc8b T C 5: 105,629,753 (GRCm39) Y700H probably damaging Het
Mefv A G 16: 3,528,752 (GRCm39) V593A probably benign Het
Mrgprh C T 17: 13,095,856 (GRCm39) T32M probably benign Het
Mrpl18 A G 17: 13,132,655 (GRCm39) probably null Het
Muc1 A G 3: 89,138,903 (GRCm39) E504G probably damaging Het
Ndufa13 G A 8: 70,347,169 (GRCm39) A77V probably damaging Het
Or8g33 A G 9: 39,337,654 (GRCm39) F238L possibly damaging Het
Pgbd5 T A 8: 125,111,363 (GRCm39) probably null Het
Pgm5 T A 19: 24,812,179 (GRCm39) I118F probably damaging Het
Phyhip T C 14: 70,704,572 (GRCm39) F264L possibly damaging Het
Polr3e C T 7: 120,531,360 (GRCm39) R176W probably damaging Het
Prkacb C T 3: 146,452,438 (GRCm39) probably null Het
Rab19 T G 6: 39,360,975 (GRCm39) V41G possibly damaging Het
Rapgef5 A G 12: 117,679,130 (GRCm39) Y234C probably benign Het
Slc26a5 T C 5: 22,018,863 (GRCm39) T659A probably damaging Het
Slc6a2 G A 8: 93,720,729 (GRCm39) V449I probably benign Het
Stab2 A G 10: 86,723,726 (GRCm39) S1490P probably damaging Het
Tln1 T C 4: 43,548,005 (GRCm39) T713A probably damaging Het
Tmc6 A T 11: 117,659,932 (GRCm39) L732Q probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn1r203 A T 13: 22,708,905 (GRCm39) K229* probably null Het
Xylt1 G A 7: 117,266,660 (GRCm39) G893R probably damaging Het
Ythdf1 A T 2: 180,553,907 (GRCm39) S69T probably damaging Het
Zfp114 C T 7: 23,880,509 (GRCm39) T285I probably benign Het
Zfp458 T C 13: 67,405,113 (GRCm39) E439G probably damaging Het
Zfp65 G A 13: 67,858,499 (GRCm39) T55I probably damaging Het
Zmym1 C T 4: 126,947,996 (GRCm39) probably null Het
Other mutations in Dipk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02203:Dipk1a APN 5 108,059,647 (GRCm39) missense probably benign 0.24
R1799:Dipk1a UTSW 5 108,057,713 (GRCm39) missense probably damaging 0.98
R2048:Dipk1a UTSW 5 108,057,886 (GRCm39) missense probably damaging 0.98
R2408:Dipk1a UTSW 5 108,062,291 (GRCm39) missense possibly damaging 0.90
R3085:Dipk1a UTSW 5 108,062,290 (GRCm39) missense probably damaging 1.00
R4446:Dipk1a UTSW 5 108,072,500 (GRCm39) missense probably damaging 1.00
R4654:Dipk1a UTSW 5 108,057,982 (GRCm39) splice site probably null
R4979:Dipk1a UTSW 5 108,057,400 (GRCm39) nonsense probably null
R5405:Dipk1a UTSW 5 108,057,827 (GRCm39) missense probably benign 0.00
R5482:Dipk1a UTSW 5 108,057,529 (GRCm39) missense probably damaging 1.00
R6397:Dipk1a UTSW 5 108,059,504 (GRCm39) nonsense probably null
R7006:Dipk1a UTSW 5 108,058,027 (GRCm39) missense probably benign 0.01
R7465:Dipk1a UTSW 5 108,057,550 (GRCm39) missense probably damaging 1.00
R8004:Dipk1a UTSW 5 108,057,532 (GRCm39) missense probably damaging 1.00
R8698:Dipk1a UTSW 5 108,057,776 (GRCm39) missense probably damaging 0.99
R9239:Dipk1a UTSW 5 108,059,572 (GRCm39) missense possibly damaging 0.93
R9330:Dipk1a UTSW 5 108,059,583 (GRCm39) missense probably benign 0.19
R9567:Dipk1a UTSW 5 108,057,368 (GRCm39) nonsense probably null
X0013:Dipk1a UTSW 5 108,057,713 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACATCTTGGCCCTACACCTG -3'
(R):5'- TGTAGAACTAGCTGTGACCTGAG -3'

Sequencing Primer
(F):5'- ACCTGCCATTATTGTTACAACATGC -3'
(R):5'- CTAGCTGTGACCTGAGTACAATG -3'
Posted On 2014-10-01