Incidental Mutation 'R2234:Dazap1'
ID 239936
Institutional Source Beutler Lab
Gene Symbol Dazap1
Ensembl Gene ENSMUSG00000069565
Gene Name DAZ associated protein 1
Synonyms 2410042M16Rik, mPrrp
MMRRC Submission 040235-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.588) question?
Stock # R2234 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80097320-80124242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80113433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 110 (K110E)
Ref Sequence ENSEMBL: ENSMUSP00000101000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092305] [ENSMUST00000105361] [ENSMUST00000105362] [ENSMUST00000156935]
AlphaFold Q9JII5
Predicted Effect unknown
Transcript: ENSMUST00000092305
AA Change: K111E
SMART Domains Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
AA Change: K111E

DomainStartEndE-ValueType
RRM 11 83 1.89e-24 SMART
RRM 114 186 6.25e-25 SMART
low complexity region 238 261 N/A INTRINSIC
low complexity region 270 332 N/A INTRINSIC
low complexity region 363 394 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105361
AA Change: K110E

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
AA Change: K110E

DomainStartEndE-ValueType
RRM 11 83 1.89e-24 SMART
RRM 113 185 6.25e-25 SMART
low complexity region 237 260 N/A INTRINSIC
low complexity region 269 331 N/A INTRINSIC
low complexity region 363 394 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000105362
AA Change: K110E
SMART Domains Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
AA Change: K110E

DomainStartEndE-ValueType
RRM 11 83 1.89e-24 SMART
RRM 113 185 6.25e-25 SMART
low complexity region 237 260 N/A INTRINSIC
low complexity region 269 331 N/A INTRINSIC
low complexity region 362 393 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150328
Predicted Effect probably benign
Transcript: ENSMUST00000156935
AA Change: K102E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565
AA Change: K102E

DomainStartEndE-ValueType
RRM 3 75 1.89e-24 SMART
RRM 105 171 6.71e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184241
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show partial lethality during fetal growth through weaning, growth retardation, spermatogenic arrest, and premature death. Homozygotes for a hypomorphic allele live longer but are small and sterile and display small gonads, spermatogenic arrest, and abnormal pregnancy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Akap8l C T 17: 32,557,777 (GRCm39) G37R probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cd81 T A 7: 142,620,056 (GRCm39) N71K probably benign Het
Cemip G T 7: 83,647,770 (GRCm39) D103E probably benign Het
Chfr A G 5: 110,318,729 (GRCm39) K580E probably damaging Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cpb1 A T 3: 20,329,629 (GRCm39) D32E probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
Eml5 A C 12: 98,807,840 (GRCm39) D984E probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hspa2 A G 12: 76,451,419 (GRCm39) T38A possibly damaging Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kalrn C A 16: 33,996,632 (GRCm39) probably null Het
Kmt2d T C 15: 98,763,129 (GRCm39) D240G probably damaging Het
Lrrc56 T A 7: 140,778,207 (GRCm39) D66E probably damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2d4 C A 7: 106,543,827 (GRCm39) C127F probably damaging Het
Or4c114 A G 2: 88,904,592 (GRCm39) L281P probably damaging Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Or7g19 A T 9: 18,856,112 (GRCm39) H56L probably damaging Het
Or8k39 A G 2: 86,563,921 (GRCm39) F12L possibly damaging Het
Pax8 A G 2: 24,333,114 (GRCm39) I77T probably damaging Het
Paxbp1 T C 16: 90,831,822 (GRCm39) I355M probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Plec A T 15: 76,061,147 (GRCm39) I2952N probably damaging Het
Ppp1r12a A G 10: 108,034,780 (GRCm39) I108M possibly damaging Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scap T C 9: 110,210,661 (GRCm39) C998R probably damaging Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Ssc5d A G 7: 4,946,849 (GRCm39) T1068A probably benign Het
Stambp A G 6: 83,528,960 (GRCm39) S362P probably damaging Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xpnpep1 T G 19: 53,001,892 (GRCm39) D118A probably damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly damaging Het
Other mutations in Dazap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03151:Dazap1 APN 10 80,116,754 (GRCm39) splice site probably benign
R0058:Dazap1 UTSW 10 80,097,415 (GRCm39) splice site probably benign
R0058:Dazap1 UTSW 10 80,097,415 (GRCm39) splice site probably benign
R0131:Dazap1 UTSW 10 80,114,060 (GRCm39) splice site probably null
R0132:Dazap1 UTSW 10 80,114,060 (GRCm39) splice site probably null
R0938:Dazap1 UTSW 10 80,116,795 (GRCm39) missense possibly damaging 0.82
R1976:Dazap1 UTSW 10 80,110,454 (GRCm39) splice site probably null
R2233:Dazap1 UTSW 10 80,113,433 (GRCm39) missense possibly damaging 0.69
R2326:Dazap1 UTSW 10 80,120,067 (GRCm39) missense possibly damaging 0.90
R3619:Dazap1 UTSW 10 80,121,194 (GRCm39) unclassified probably benign
R3747:Dazap1 UTSW 10 80,123,498 (GRCm39) missense possibly damaging 0.94
R6009:Dazap1 UTSW 10 80,121,138 (GRCm39) unclassified probably benign
R6324:Dazap1 UTSW 10 80,113,494 (GRCm39) missense probably benign 0.17
R6484:Dazap1 UTSW 10 80,113,481 (GRCm39) missense probably benign 0.11
R9628:Dazap1 UTSW 10 80,118,999 (GRCm39) missense unknown
R9758:Dazap1 UTSW 10 80,113,440 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGAAGCCTTATGAGCTGGAG -3'
(R):5'- ATAAACCCAGGTGTCCAGGTGG -3'

Sequencing Primer
(F):5'- CTGGAGTAGCAGTGGGTGG -3'
(R):5'- TAGCGTGCATGCCTCCTAG -3'
Posted On 2014-10-15