Incidental Mutation 'R0938:Dazap1'
ID 81252
Institutional Source Beutler Lab
Gene Symbol Dazap1
Ensembl Gene ENSMUSG00000069565
Gene Name DAZ associated protein 1
Synonyms 2410042M16Rik, mPrrp
MMRRC Submission 039077-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.473) question?
Stock # R0938 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80097320-80124242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80116795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 165 (S165P)
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: S166P
SMART Domains Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
AA Change: S166P

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: S165P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
AA Change: S165P

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: S165P
SMART Domains Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
AA Change: S165P

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: S157P

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565
AA Change: S157P

DomainStartEndE-ValueType
RRM 3 75 1.89e-24 SMART
RRM 105 171 6.71e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151619
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.7%
  • 20x: 88.1%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcan A G 3: 87,900,461 (GRCm39) S591P possibly damaging Het
Chfr T C 5: 110,311,924 (GRCm39) L579P probably damaging Het
Dab2 C T 15: 6,464,865 (GRCm39) T439I probably benign Het
Dlx2 C A 2: 71,375,012 (GRCm39) W284L possibly damaging Het
Dync2h1 A T 9: 7,002,658 (GRCm39) N3803K probably benign Het
Dynlrb2 A C 8: 117,241,707 (GRCm39) probably null Het
Fhl2 A G 1: 43,180,866 (GRCm39) I108T possibly damaging Het
Fntb A G 12: 76,963,214 (GRCm39) Y399C probably damaging Het
Galnt18 T C 7: 111,119,206 (GRCm39) I438M possibly damaging Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Ifi204 A T 1: 173,579,311 (GRCm39) N511K possibly damaging Het
Klhl1 A T 14: 96,389,476 (GRCm39) Y559* probably null Het
Mob1b T A 5: 88,897,452 (GRCm39) I120N probably damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Oosp2 G A 19: 11,628,904 (GRCm39) Q66* probably null Het
P4ha2 A G 11: 54,010,148 (GRCm39) K302E possibly damaging Het
Pard6g C T 18: 80,123,259 (GRCm39) R98* probably null Het
Pkdrej G A 15: 85,702,364 (GRCm39) P1191S probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Smim29 T C 17: 27,783,368 (GRCm39) K43R possibly damaging Het
Ubap2 A C 4: 41,202,304 (GRCm39) L708R probably damaging Het
Zfp638 G A 6: 83,961,023 (GRCm39) V1204I probably benign Het
Zfp865 G T 7: 5,034,403 (GRCm39) C796F possibly damaging Het
Zmiz2 A T 11: 6,347,185 (GRCm39) M237L probably benign 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
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
R2234: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'- AGCTGCGAAGCGAATTGCAAAC -3'
(R):5'- GGCAACACTAGGGTCTCACTGAAAG -3'

Sequencing Primer
(F):5'- AAGGGTGAATGTCACCTACTGTC -3'
(R):5'- GGTCTCACTGAAAGCCCCC -3'
Posted On 2013-11-07