Incidental Mutation 'IGL02220:Zscan29'
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ID285090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zscan29
Ensembl Gene ENSMUSG00000050619
Gene Namezinc finger SCAN domains 29
SynonymsZfp690
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL02220
Quality Score
Status
Chromosome2
Chromosomal Location121158273-121171125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 121166689 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 184 (S184A)
Ref Sequence ENSEMBL: ENSMUSP00000125987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039541] [ENSMUST00000079024] [ENSMUST00000110657] [ENSMUST00000110658] [ENSMUST00000110661] [ENSMUST00000146243] [ENSMUST00000163766] [ENSMUST00000186659]
Predicted Effect probably benign
Transcript: ENSMUST00000039541
SMART Domains Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 573 2.8e-111 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000079024
AA Change: S184A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
AA Change: S184A

DomainStartEndE-ValueType
SCAN 13 125 5.83e-70 SMART
Pfam:Myb_DNA-bind_4 238 323 3e-21 PFAM
Pfam:Myb_DNA-bind_4 399 484 4.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110657
SMART Domains Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 3.1e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110658
SMART Domains Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110661
AA Change: S184A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: S184A

DomainStartEndE-ValueType
SCAN 13 125 5.83e-70 SMART
Pfam:Myb_DNA-bind_4 238 323 5.4e-21 PFAM
Pfam:Myb_DNA-bind_4 399 484 7.4e-22 PFAM
low complexity region 518 532 N/A INTRINSIC
ZnF_C2H2 665 687 2.99e-4 SMART
ZnF_C2H2 693 715 2.75e-3 SMART
ZnF_C2H2 721 743 8.02e-5 SMART
ZnF_C2H2 749 771 1.13e-4 SMART
ZnF_C2H2 777 799 1.18e-2 SMART
ZnF_C2H2 805 827 1.33e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144123
Predicted Effect probably benign
Transcript: ENSMUST00000146243
AA Change: C115W

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120997
Gene: ENSMUSG00000050619
AA Change: C115W

DomainStartEndE-ValueType
SCAN 13 118 4.23e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154633
Predicted Effect probably damaging
Transcript: ENSMUST00000163766
AA Change: S184A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: S184A

DomainStartEndE-ValueType
SCAN 13 125 5.83e-70 SMART
Pfam:Myb_DNA-bind_4 238 323 5.9e-21 PFAM
Pfam:Myb_DNA-bind_4 434 519 1.3e-21 PFAM
low complexity region 553 567 N/A INTRINSIC
ZnF_C2H2 700 722 2.99e-4 SMART
ZnF_C2H2 728 750 2.75e-3 SMART
ZnF_C2H2 756 778 8.02e-5 SMART
ZnF_C2H2 784 806 1.13e-4 SMART
ZnF_C2H2 812 834 1.18e-2 SMART
ZnF_C2H2 840 862 1.33e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156370
Predicted Effect probably benign
Transcript: ENSMUST00000186659
SMART Domains Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263

DomainStartEndE-ValueType
Pfam:Spc97_Spc98 4 572 4.1e-115 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Other mutations in Zscan29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Zscan29 APN 2 121170057 missense probably damaging 1.00
IGL01938:Zscan29 APN 2 121166209 missense probably benign 0.16
IGL02370:Zscan29 APN 2 121163833 missense probably benign 0.00
IGL02585:Zscan29 APN 2 121163876 nonsense probably null
R0284:Zscan29 UTSW 2 121166733 unclassified probably benign
R0842:Zscan29 UTSW 2 121161479 missense possibly damaging 0.84
R1245:Zscan29 UTSW 2 121166503 missense probably damaging 1.00
R1586:Zscan29 UTSW 2 121161160 missense probably damaging 1.00
R1654:Zscan29 UTSW 2 121164779 missense probably benign 0.06
R1958:Zscan29 UTSW 2 121169808 critical splice donor site probably null
R2073:Zscan29 UTSW 2 121160855 nonsense probably null
R2085:Zscan29 UTSW 2 121169946 nonsense probably null
R2145:Zscan29 UTSW 2 121170106 missense probably damaging 1.00
R2201:Zscan29 UTSW 2 121169402 missense probably damaging 1.00
R2875:Zscan29 UTSW 2 121164100 missense probably damaging 1.00
R2876:Zscan29 UTSW 2 121164100 missense probably damaging 1.00
R3861:Zscan29 UTSW 2 121160731 missense probably benign 0.01
R4244:Zscan29 UTSW 2 121164794 splice site probably null
R4245:Zscan29 UTSW 2 121164794 splice site probably null
R4447:Zscan29 UTSW 2 121169886 splice site probably null
R4662:Zscan29 UTSW 2 121166615 missense probably benign 0.26
R4757:Zscan29 UTSW 2 121160911 missense possibly damaging 0.92
R4777:Zscan29 UTSW 2 121169324 missense probably damaging 0.96
R4905:Zscan29 UTSW 2 121161383 missense possibly damaging 0.53
R4970:Zscan29 UTSW 2 121169195 splice site probably null
R5860:Zscan29 UTSW 2 121164037 missense probably damaging 1.00
R5861:Zscan29 UTSW 2 121164037 missense probably damaging 1.00
R5862:Zscan29 UTSW 2 121164037 missense probably damaging 1.00
R5916:Zscan29 UTSW 2 121164037 missense probably damaging 1.00
R5917:Zscan29 UTSW 2 121164037 missense probably damaging 1.00
R5918:Zscan29 UTSW 2 121164037 missense probably damaging 1.00
R6335:Zscan29 UTSW 2 121161436 missense possibly damaging 0.49
R7214:Zscan29 UTSW 2 121169280 nonsense probably null
R7326:Zscan29 UTSW 2 121160988 missense probably damaging 1.00
R7997:Zscan29 UTSW 2 121160740 missense probably benign 0.01
RF001:Zscan29 UTSW 2 121163996 missense possibly damaging 0.95
Posted On2015-04-16