Incidental Mutation 'R7006:Dipk1a'
ID 544716
Institutional Source Beutler Lab
Gene Symbol Dipk1a
Ensembl Gene ENSMUSG00000029270
Gene Name divergent protein kinase domain 1A
Synonyms Fam69a, 2900024C23Rik
MMRRC Submission 045011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108055919-108134951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108058027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 132 (V132A)
Ref Sequence ENSEMBL: ENSMUSP00000117801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000145239] [ENSMUST00000153172]
AlphaFold Q9D6I7
Predicted Effect probably benign
Transcript: ENSMUST00000031198
AA Change: V177A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: V177A

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
AA Change: V132A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270
AA Change: V132A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,447,853 (GRCm39) V41A probably benign Het
Adcy2 G A 13: 69,036,139 (GRCm39) T174M probably damaging Het
Ankfy1 T A 11: 72,631,290 (GRCm39) I412N probably benign Het
AW146154 T C 7: 41,130,648 (GRCm39) E156G possibly damaging Het
B4galnt1 T C 10: 127,005,700 (GRCm39) L267P probably benign Het
Bod1l T C 5: 41,989,895 (GRCm39) E276G probably damaging Het
Ccdc187 T C 2: 26,171,102 (GRCm39) T459A probably benign Het
Ccdc196 T A 12: 78,255,702 (GRCm39) *177R probably null Het
Cep72 G A 13: 74,198,427 (GRCm39) Q311* probably null Het
Cir1 T C 2: 73,140,834 (GRCm39) Q45R probably damaging Het
Ciz1 T C 2: 32,261,127 (GRCm39) probably null Het
Crtap G T 9: 114,215,391 (GRCm39) A166E probably damaging Het
Dmp1 A G 5: 104,360,188 (GRCm39) D288G probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmnl2 C A 2: 52,998,266 (GRCm39) Q544K probably benign Het
Gpsm1 T C 2: 26,212,572 (GRCm39) L72P probably damaging Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Kcnq3 A C 15: 65,892,165 (GRCm39) Y403* probably null Het
Kcp A C 6: 29,499,169 (GRCm39) Y298D probably damaging Het
Kif5c T C 2: 49,625,526 (GRCm39) S599P probably damaging Het
Krt20 A T 11: 99,328,587 (GRCm39) Y113N probably benign Het
Mcm8 T G 2: 132,665,181 (GRCm39) V191G probably damaging Het
Msr1 T A 8: 40,042,423 (GRCm39) D384V probably damaging Het
Mtpap A C 18: 4,380,873 (GRCm39) S184R possibly damaging Het
Npc1l1 G A 11: 6,167,731 (GRCm39) T1020M probably benign Het
Nphp4 A G 4: 152,573,259 (GRCm39) T66A probably benign Het
Or1o3 T A 17: 37,573,625 (GRCm39) *310L probably null Het
Or4f14 C A 2: 111,742,601 (GRCm39) V225L probably benign Het
Or8h10 G A 2: 86,808,303 (GRCm39) T279I probably damaging Het
Or8k18 T A 2: 86,085,572 (GRCm39) Q155L probably benign Het
Phf11d G T 14: 59,590,823 (GRCm39) T178K probably benign Het
Ppm1d A G 11: 85,227,977 (GRCm39) K298E possibly damaging Het
Rab2b A T 14: 52,503,690 (GRCm39) I144K probably benign Het
Stoml1 A G 9: 58,167,523 (GRCm39) D5G probably damaging Het
Styxl2 T C 1: 165,926,663 (GRCm39) N983S probably benign Het
Tanc1 T C 2: 59,626,188 (GRCm39) V515A probably damaging Het
Tas1r3 A G 4: 155,947,361 (GRCm39) V108A possibly damaging Het
Tifab T C 13: 56,324,059 (GRCm39) Y128C probably benign Het
Tmc6 G T 11: 117,665,083 (GRCm39) R397S probably damaging Het
Tnpo3 C T 6: 29,589,162 (GRCm39) A63T probably damaging Het
Trgc4 T A 13: 19,528,995 (GRCm39) probably benign Het
Usp16 G T 16: 87,268,724 (GRCm39) C284F probably damaging Het
Wipf1 T C 2: 73,267,441 (GRCm39) D319G probably damaging Het
Xpnpep3 T A 15: 81,326,649 (GRCm39) W347R probably damaging Het
Zfp180 G T 7: 23,804,537 (GRCm39) E319* 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
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
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'- CATGCTCCTTCTGAACCCAG -3'
(R):5'- ACTCAGGGCCTCACACATAG -3'

Sequencing Primer
(F):5'- CCCATGGTAGACTTATTCCATACAG -3'
(R):5'- GAACTCTAGACTTGGATTTACCTGC -3'
Posted On 2019-05-13