Incidental Mutation 'R9567:Dipk1a'
ID 721671
Institutional Source Beutler Lab
Gene Symbol Dipk1a
Ensembl Gene ENSMUSG00000029270
Gene Name divergent protein kinase domain 1A
Synonyms Fam69a, 2900024C23Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9567 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108055919-108134951 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108057368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 397 (K397*)
Ref Sequence ENSEMBL: ENSMUSP00000031198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000145239] [ENSMUST00000153172] [ENSMUST00000153590]
AlphaFold Q9D6I7
Predicted Effect probably null
Transcript: ENSMUST00000031198
AA Change: K397*
SMART Domains Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: K397*

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 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: ENSMUST00000153172
SMART Domains Protein: ENSMUSP00000114892
Gene: ENSMUSG00000029270

DomainStartEndE-ValueType
PIP49_N 24 87 1.07e-2 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,602,793 (GRCm39) P52S probably damaging Het
6820408C15Rik C A 2: 152,270,867 (GRCm39) P30Q probably damaging Het
Adam18 C T 8: 25,118,210 (GRCm39) V569I probably benign Het
Adnp2 A T 18: 80,174,133 (GRCm39) L92Q probably damaging Het
Ahi1 C T 10: 20,857,300 (GRCm39) H632Y possibly damaging Het
Akap9 A G 5: 4,127,311 (GRCm39) N3720D possibly damaging Het
Alpk3 T C 7: 80,742,687 (GRCm39) S835P possibly damaging Het
Amer3 C T 1: 34,627,836 (GRCm39) L692F probably benign Het
Anks6 T A 4: 47,044,880 (GRCm39) D342V unknown Het
Arap2 G T 5: 62,761,841 (GRCm39) F1628L probably benign Het
Arhgap21 T G 2: 20,896,953 (GRCm39) I108L possibly damaging Het
Cacna1h T C 17: 25,612,487 (GRCm39) I404V probably damaging Het
Cacna2d3 G T 14: 28,627,268 (GRCm39) A1077E probably benign Het
Cacng6 T C 7: 3,483,281 (GRCm39) V203A probably benign Het
Clec1b A T 6: 129,382,201 (GRCm39) D226V possibly damaging Het
Crb1 A C 1: 139,171,208 (GRCm39) S727R probably benign Het
Dars1 T C 1: 128,343,112 (GRCm39) I35V Het
Ddo T A 10: 40,523,913 (GRCm39) V301D probably damaging Het
Diablo C A 5: 123,662,196 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,353,473 (GRCm39) H2875Q probably benign Het
E230025N22Rik A G 18: 36,820,336 (GRCm39) L282P Het
Ebna1bp2 A G 4: 118,478,190 (GRCm39) Q21R probably benign Het
Exoc7 C T 11: 116,195,724 (GRCm39) V93I probably benign Het
Foxk1 T A 5: 142,387,713 (GRCm39) Y145* probably null Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fsip2 C T 2: 82,798,173 (GRCm39) T489M probably benign Het
Gbf1 C T 19: 46,260,046 (GRCm39) T1067I Het
Ggta1 T A 2: 35,313,333 (GRCm39) T3S possibly damaging Het
Guf1 T A 5: 69,721,951 (GRCm39) V370E possibly damaging Het
Hmg20a A G 9: 56,384,472 (GRCm39) S81G probably benign Het
Igf2r G A 17: 12,905,641 (GRCm39) T2230I probably damaging Het
Ighmbp2 A T 19: 3,332,785 (GRCm39) M1K probably null Het
Klhdc9 T C 1: 171,187,914 (GRCm39) T106A probably benign Het
Kti12 T C 4: 108,705,935 (GRCm39) M283T possibly damaging Het
Lrig3 C T 10: 125,845,964 (GRCm39) P798S probably benign Het
Lrp8 T C 4: 107,711,469 (GRCm39) F333L probably damaging Het
Lyn T A 4: 3,746,757 (GRCm39) D178E probably benign Het
Magi1 G A 6: 93,655,431 (GRCm39) A1405V probably damaging Het
Magi1 A C 6: 93,659,931 (GRCm39) probably null Het
Mdga1 G A 17: 30,076,569 (GRCm39) P68S probably damaging Het
Mfsd8 T C 3: 40,793,933 (GRCm39) S25G probably benign Het
Mgat1 C A 11: 49,152,694 (GRCm39) S392R probably benign Het
Mtmr2 C T 9: 13,713,301 (GRCm39) Q493* probably null Het
Myocd A T 11: 65,078,410 (GRCm39) S462T probably damaging Het
Ndnf A G 6: 65,681,164 (GRCm39) Y481C probably damaging Het
Neb G T 2: 52,065,138 (GRCm39) R6258S probably damaging Het
Nlrp4c A G 7: 6,063,624 (GRCm39) M11V probably benign Het
Nup93 T C 8: 95,035,604 (GRCm39) S658P possibly damaging Het
Obox2 T A 7: 15,130,771 (GRCm39) M1K probably null Het
Or10ag55-ps1 T A 2: 87,115,037 (GRCm39) Y134* probably null Het
Or10g9 T A 9: 39,912,367 (GRCm39) H52L possibly damaging Het
Or1e20-ps1 G T 11: 73,324,789 (GRCm39) H88N unknown Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Pcdh18 T A 3: 49,710,884 (GRCm39) I144F possibly damaging Het
Pcdhgb5 C T 18: 37,864,982 (GRCm39) T259I probably damaging Het
Pclo A G 5: 14,763,436 (GRCm39) T685A Het
Pecam1 T C 11: 106,588,121 (GRCm39) T139A possibly damaging Het
Pi15 T A 1: 17,695,178 (GRCm39) L265Q probably damaging Het
Pkd1l3 T A 8: 110,394,173 (GRCm39) F2053L probably damaging Het
Ppp1r36 A G 12: 76,485,900 (GRCm39) I353V probably benign Het
Ppp1r9a A G 6: 5,157,004 (GRCm39) S961G probably benign Het
Rbm42 T C 7: 30,345,395 (GRCm39) R151G possibly damaging Het
Rnf224 T C 2: 25,126,354 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Slc17a5 T A 9: 78,445,562 (GRCm39) Q457L possibly damaging Het
Slc5a4a A T 10: 76,022,396 (GRCm39) D577V probably benign Het
Stim2 A G 5: 54,232,707 (GRCm39) D123G probably damaging Het
Stxbp5l A G 16: 37,061,734 (GRCm39) F359L probably benign Het
Syne1 T C 10: 5,196,386 (GRCm39) D3882G possibly damaging Het
Synj1 G T 16: 90,790,912 (GRCm39) S83Y possibly damaging Het
Tfip11 C T 5: 112,479,029 (GRCm39) T199I probably damaging Het
Thoc2l T A 5: 104,669,644 (GRCm39) S1389T probably benign Het
Tiam1 T A 16: 89,591,653 (GRCm39) D1349V probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ucn3 T A 13: 3,991,313 (GRCm39) D113V probably damaging Het
Ugt3a1 A G 15: 9,306,370 (GRCm39) D173G possibly damaging Het
Uimc1 C A 13: 55,188,427 (GRCm39) R544L possibly damaging Het
Unc13c T C 9: 73,536,485 (GRCm39) S1623G probably damaging Het
Vmn2r41 T C 7: 8,141,391 (GRCm39) N691S probably benign Het
Wdr24 T A 17: 26,043,190 (GRCm39) M4K probably damaging Het
Wdr48 T C 9: 119,741,454 (GRCm39) F332L probably benign Het
Xpo7 A G 14: 70,903,466 (GRCm39) V1080A probably benign Het
Zc3h3 A T 15: 75,651,261 (GRCm39) I653N probably damaging Het
Zfp1005 A T 2: 150,109,517 (GRCm39) H69L possibly damaging Het
Zfp362 T A 4: 128,688,681 (GRCm39) M1L unknown Het
Zfp503 A G 14: 22,036,041 (GRCm39) C292R possibly damaging 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
R2169:Dipk1a UTSW 5 108,057,325 (GRCm39) nonsense probably null
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
X0013:Dipk1a UTSW 5 108,057,713 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATGATGACTCCACAGGCCTG -3'
(R):5'- TATTAAGGACCGCCACTGTG -3'

Sequencing Primer
(F):5'- CTCAATGATGGCAGTAGTC -3'
(R):5'- GACTGTGTCTACGGTACAGAC -3'
Posted On 2022-08-09