Incidental Mutation 'R3106:Dzip1l'
ID 263065
Institutional Source Beutler Lab
Gene Symbol Dzip1l
Ensembl Gene ENSMUSG00000037784
Gene Name DAZ interacting protein 1-like
Synonyms 2610524A10Rik
MMRRC Submission 040580-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.290) question?
Stock # R3106 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 99511549-99551309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99529174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 301 (E301G)
Ref Sequence ENSEMBL: ENSMUSP00000108507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078367] [ENSMUST00000112884] [ENSMUST00000112885] [ENSMUST00000112886]
AlphaFold Q499E4
Predicted Effect probably benign
Transcript: ENSMUST00000078367
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: E301G

DomainStartEndE-ValueType
Pfam:Dzip-like_N 24 144 5e-48 PFAM
low complexity region 153 159 N/A INTRINSIC
ZnF_C2H2 166 189 3.34e-2 SMART
low complexity region 221 238 N/A INTRINSIC
SCOP:d1eq1a_ 242 411 2e-3 SMART
low complexity region 422 441 N/A INTRINSIC
low complexity region 597 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112884
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: E301G

DomainStartEndE-ValueType
Pfam:Dzip-like_N 24 144 9.8e-48 PFAM
low complexity region 153 159 N/A INTRINSIC
ZnF_C2H2 166 189 3.34e-2 SMART
low complexity region 221 238 N/A INTRINSIC
SCOP:d1eq1a_ 242 411 2e-3 SMART
low complexity region 422 441 N/A INTRINSIC
low complexity region 597 621 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112885
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: E301G

DomainStartEndE-ValueType
Pfam:Dzip-like_N 24 144 9.8e-48 PFAM
low complexity region 153 159 N/A INTRINSIC
ZnF_C2H2 166 189 3.34e-2 SMART
low complexity region 221 238 N/A INTRINSIC
SCOP:d1eq1a_ 242 411 2e-3 SMART
low complexity region 422 441 N/A INTRINSIC
low complexity region 597 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112886
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: E301G

DomainStartEndE-ValueType
Pfam:Dzip-like_N 24 144 9.8e-48 PFAM
low complexity region 153 159 N/A INTRINSIC
ZnF_C2H2 166 189 3.34e-2 SMART
low complexity region 221 238 N/A INTRINSIC
SCOP:d1eq1a_ 242 411 2e-3 SMART
low complexity region 422 441 N/A INTRINSIC
low complexity region 597 621 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190893
Meta Mutation Damage Score 0.1277 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,995,856 (GRCm39) E1331V possibly damaging Het
Adam22 A G 5: 8,167,583 (GRCm39) probably null Het
Adamts17 T A 7: 66,774,820 (GRCm39) S980T probably damaging Het
Adarb1 C A 10: 77,157,591 (GRCm39) K285N probably damaging Het
Atp5f1c A G 2: 10,068,276 (GRCm39) S160P probably benign Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Btf3 T G 13: 98,447,496 (GRCm39) E145D probably benign Het
Ccdc184 G T 15: 98,066,482 (GRCm39) A96S probably damaging Het
Ccdc191 T C 16: 43,751,573 (GRCm39) F301S probably damaging Het
Ceacam5 T C 7: 17,481,248 (GRCm39) Y332H probably benign Het
Clip2 T C 5: 134,551,918 (GRCm39) K68R probably benign Het
Cntln C T 4: 84,875,406 (GRCm39) T280M possibly damaging Het
Col6a3 T C 1: 90,744,024 (GRCm39) R515G probably damaging Het
Ctnnal1 G A 4: 56,813,246 (GRCm39) L662F probably benign Het
Dennd3 C A 15: 73,436,973 (GRCm39) S118* probably null Het
Dgkg T A 16: 22,394,091 (GRCm39) T321S probably damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Ezh1 A C 11: 101,086,468 (GRCm39) C575W probably damaging Het
Fam187b A G 7: 30,676,665 (GRCm39) D58G probably benign Het
Galnt4 T C 10: 98,945,243 (GRCm39) Y323H probably benign Het
Grm1 A G 10: 10,955,601 (GRCm39) S228P probably benign Het
H1f2 G T 13: 23,922,883 (GRCm39) A18S unknown Het
Hnf4g T G 3: 3,717,916 (GRCm39) S388R probably benign Het
Il1rap A G 16: 26,541,502 (GRCm39) E581G probably benign Het
Lemd2 C A 17: 27,420,644 (GRCm39) L256F probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Nphs1 C A 7: 30,166,965 (GRCm39) S724* probably null Het
Or4g17 A G 2: 111,209,840 (GRCm39) N165S probably benign Het
Or5w13 T C 2: 87,523,849 (GRCm39) I126V probably damaging Het
Osgep T C 14: 51,154,286 (GRCm39) T225A probably benign Het
Pan3 T C 5: 147,476,189 (GRCm39) probably benign Het
Pld3 A G 7: 27,235,212 (GRCm39) probably null Het
Plekha7 C T 7: 115,763,639 (GRCm39) R321K probably benign Het
Plekhg5 C T 4: 152,196,635 (GRCm39) T694M probably damaging Het
Pramel31 T C 4: 144,088,246 (GRCm39) V14A probably benign Het
Ptpn20 A G 14: 33,334,253 (GRCm39) I44V probably benign Het
Ptprj T A 2: 90,270,975 (GRCm39) H1251L probably damaging Het
Sbspon T C 1: 15,962,806 (GRCm39) E24G probably benign Het
Sfmbt1 G A 14: 30,539,753 (GRCm39) C847Y probably damaging Het
Sparcl1 T C 5: 104,241,203 (GRCm39) T74A probably benign Het
Sppl2b A G 10: 80,703,325 (GRCm39) E529G probably benign Het
Stradb C A 1: 59,031,450 (GRCm39) H212Q possibly damaging Het
Tkfc G T 19: 10,574,357 (GRCm39) C198* probably null Het
Tm4sf4 C T 3: 57,345,043 (GRCm39) R150C possibly damaging Het
Tmem212 T C 3: 27,939,019 (GRCm39) S156G probably damaging Het
Tmem51 T C 4: 141,765,035 (GRCm39) N8D probably damaging Het
Tmigd1 A G 11: 76,801,124 (GRCm39) T204A possibly damaging Het
Trp53bp1 A G 2: 121,067,133 (GRCm39) L531S probably damaging Het
Tsga10 G A 1: 37,840,872 (GRCm39) L445F probably damaging Het
Urb1 C T 16: 90,592,331 (GRCm39) V310I probably damaging Het
Vmn2r129 T A 4: 156,685,730 (GRCm39) noncoding transcript Het
Wdr19 T C 5: 65,359,966 (GRCm39) S24P probably benign Het
Other mutations in Dzip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Dzip1l APN 9 99,519,830 (GRCm39) missense probably damaging 0.99
IGL01992:Dzip1l APN 9 99,545,739 (GRCm39) missense probably damaging 1.00
R0276:Dzip1l UTSW 9 99,543,051 (GRCm39) missense probably benign 0.38
R0506:Dzip1l UTSW 9 99,545,134 (GRCm39) missense possibly damaging 0.76
R1469:Dzip1l UTSW 9 99,541,829 (GRCm39) critical splice donor site probably null
R1469:Dzip1l UTSW 9 99,541,829 (GRCm39) critical splice donor site probably null
R2904:Dzip1l UTSW 9 99,545,722 (GRCm39) missense probably damaging 0.99
R2905:Dzip1l UTSW 9 99,545,722 (GRCm39) missense probably damaging 0.99
R2911:Dzip1l UTSW 9 99,537,655 (GRCm39) missense probably benign 0.00
R3106:Dzip1l UTSW 9 99,524,625 (GRCm39) nonsense probably null
R4394:Dzip1l UTSW 9 99,521,907 (GRCm39) missense probably damaging 1.00
R4570:Dzip1l UTSW 9 99,529,221 (GRCm39) nonsense probably null
R4579:Dzip1l UTSW 9 99,529,267 (GRCm39) missense probably damaging 1.00
R4695:Dzip1l UTSW 9 99,529,258 (GRCm39) missense probably benign 0.11
R4696:Dzip1l UTSW 9 99,545,664 (GRCm39) missense possibly damaging 0.94
R4748:Dzip1l UTSW 9 99,524,704 (GRCm39) missense probably damaging 0.96
R5063:Dzip1l UTSW 9 99,549,705 (GRCm39) missense probably damaging 1.00
R5747:Dzip1l UTSW 9 99,521,862 (GRCm39) splice site probably null
R6089:Dzip1l UTSW 9 99,524,737 (GRCm39) missense possibly damaging 0.63
R7030:Dzip1l UTSW 9 99,547,888 (GRCm39) missense probably benign 0.00
R7454:Dzip1l UTSW 9 99,541,727 (GRCm39) missense possibly damaging 0.59
R7485:Dzip1l UTSW 9 99,543,065 (GRCm39) missense probably benign 0.02
R7706:Dzip1l UTSW 9 99,519,589 (GRCm39) missense probably damaging 1.00
R7734:Dzip1l UTSW 9 99,549,735 (GRCm39) missense probably damaging 1.00
R7790:Dzip1l UTSW 9 99,543,015 (GRCm39) missense possibly damaging 0.58
R8463:Dzip1l UTSW 9 99,519,875 (GRCm39) missense possibly damaging 0.92
R9001:Dzip1l UTSW 9 99,523,907 (GRCm39) critical splice donor site probably null
R9355:Dzip1l UTSW 9 99,543,144 (GRCm39) missense possibly damaging 0.56
R9511:Dzip1l UTSW 9 99,519,710 (GRCm39) missense possibly damaging 0.94
Z1176:Dzip1l UTSW 9 99,523,814 (GRCm39) missense possibly damaging 0.59
Z1177:Dzip1l UTSW 9 99,547,907 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TTTACTGTACAGGGGCTGAGC -3'
(R):5'- CAAACAGAAGCCTCAGTGGG -3'

Sequencing Primer
(F):5'- AGGGGGCTGCTGATTGG -3'
(R):5'- CTCAGTGGGGACAGCTAGATTC -3'
Posted On 2015-02-05