Incidental Mutation 'R7465:Dipk1a'
ID 578696
Institutional Source Beutler Lab
Gene Symbol Dipk1a
Ensembl Gene ENSMUSG00000029270
Gene Name divergent protein kinase domain 1A
Synonyms Fam69a, 2900024C23Rik
MMRRC Submission 045539-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7465 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108055919-108134951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108057550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 336 (D336G)
Ref Sequence ENSEMBL: ENSMUSP00000031198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000145239] [ENSMUST00000153172] [ENSMUST00000153590]
AlphaFold Q9D6I7
Predicted Effect probably damaging
Transcript: ENSMUST00000031198
AA Change: D336G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: D336G

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
Meta Mutation Damage Score 0.9281 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A T 13: 30,565,964 (GRCm39) D343V probably benign Het
Anks1 G A 17: 28,273,297 (GRCm39) R972Q possibly damaging Het
Atp2a2 T C 5: 122,599,763 (GRCm39) K543E probably benign Het
Atp8b5 G A 4: 43,271,269 (GRCm39) V4I probably benign Het
Bcar3 A T 3: 122,316,879 (GRCm39) N617Y probably benign Het
Blm A G 7: 80,162,863 (GRCm39) S163P probably benign Het
Cbx3 A G 6: 51,455,510 (GRCm39) D87G probably benign Het
Celsr1 A G 15: 85,917,593 (GRCm39) S127P probably benign Het
Cndp1 A T 18: 84,637,666 (GRCm39) M356K probably damaging Het
Cnn2 G A 10: 79,828,361 (GRCm39) E113K probably damaging Het
Col17a1 T A 19: 47,656,544 (GRCm39) R573* probably null Het
Cttnbp2 T A 6: 18,501,991 (GRCm39) E49V probably damaging Het
Dynlrb2 T A 8: 117,241,696 (GRCm39) V80E possibly damaging Het
Ehbp1 A G 11: 22,088,001 (GRCm39) V386A probably benign Het
Elfn1 C T 5: 139,957,842 (GRCm39) P282L probably benign Het
Fan1 G A 7: 64,003,386 (GRCm39) T812I probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat1 G A 8: 45,497,189 (GRCm39) V4225I probably benign Het
Frem1 A G 4: 82,833,072 (GRCm39) C1873R probably benign Het
Fsd1l T C 4: 53,647,755 (GRCm39) I66T probably benign Het
Gabrr1 C A 4: 33,146,970 (GRCm39) D52E probably benign Het
Il18rap T C 1: 40,582,249 (GRCm39) L390P probably damaging Het
Il27ra T A 8: 84,766,241 (GRCm39) D181V probably benign Het
Irgq C A 7: 24,233,834 (GRCm39) H558Q probably damaging Het
Itsn2 C T 12: 4,756,983 (GRCm39) Q1358* probably null Het
Kmt2c C T 5: 25,507,847 (GRCm39) G3197S probably damaging Het
Lrrk2 A G 15: 91,651,543 (GRCm39) Y1733C probably damaging Het
Mapk7 G A 11: 61,381,279 (GRCm39) A510V probably damaging Het
Mtch1 A T 17: 29,551,698 (GRCm39) C385S probably benign Het
Nfib A G 4: 82,271,758 (GRCm39) probably null Het
Nostrin C T 2: 69,015,851 (GRCm39) T448M possibly damaging Het
Or12j4 T A 7: 140,046,711 (GRCm39) V199D probably damaging Het
Or4c12b T C 2: 89,646,880 (GRCm39) L64P probably damaging Het
Or52e18 A G 7: 104,609,124 (GRCm39) Y272H probably benign Het
Or5a3 T A 19: 12,400,509 (GRCm39) Y279N probably damaging Het
Or5an10 T C 19: 12,275,801 (GRCm39) I232V probably benign Het
Or8k28 A G 2: 86,286,150 (GRCm39) V155A probably benign Het
Pcdha2 T C 18: 37,073,383 (GRCm39) V338A probably damaging Het
Pcdhgc3 A G 18: 37,940,798 (GRCm39) T400A probably benign Het
Piezo2 C T 18: 63,145,794 (GRCm39) S2710N probably benign Het
Ppp4r1 T A 17: 66,138,015 (GRCm39) Y591* probably null Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rab42 T C 4: 132,029,925 (GRCm39) E99G possibly damaging Het
Rd3l A T 12: 111,945,916 (GRCm39) W188R probably damaging Het
Sap30bp A G 11: 115,842,794 (GRCm39) D89G probably benign Het
Sptbn4 T C 7: 27,066,114 (GRCm39) T1985A probably benign Het
Tec T C 5: 72,931,223 (GRCm39) Y247C probably damaging Het
Tek G A 4: 94,716,063 (GRCm39) probably null Het
Tex14 T C 11: 87,405,256 (GRCm39) S723P possibly damaging Het
Thumpd3 T A 6: 113,024,592 (GRCm39) L62Q probably damaging Het
Tlr12 A T 4: 128,509,963 (GRCm39) D762E probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Txndc16 T A 14: 45,402,845 (GRCm39) I316F probably damaging Het
Vamp1 T C 6: 125,195,538 (GRCm39) S2P unknown Het
Vmn1r211 T A 13: 23,036,086 (GRCm39) M194L probably benign Het
Zfp874a T A 13: 67,590,376 (GRCm39) Q436L probably 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
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'- CTGTGACTTTGAGAGCAATACAAG -3'
(R):5'- ACCATCATGGCCCAGAAAGG -3'

Sequencing Primer
(F):5'- CTTTGAGAGCAATACAAGAATAAAGC -3'
(R):5'- GCAAAGATAGCCATAGGACTTCTAG -3'
Posted On 2019-10-07