Incidental Mutation 'IGL02220:Zscan29'
ID |
285090 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL02220
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 120997170 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
[ENSMUST00000163766]
[ENSMUST00000146243]
[ENSMUST00000186659]
|
AlphaFold |
E9Q5B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
|
SMART Domains |
Protein: ENSMUSP00000044049 Gene: ENSMUSG00000027263
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
|
SMART Domains |
Protein: ENSMUSP00000106286 Gene: ENSMUSG00000027263
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Domain | Start | End | E-Value | Type |
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 |
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
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156370
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
|
SMART Domains |
Protein: ENSMUSP00000140417 Gene: ENSMUSG00000027263
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,310,395 (GRCm39) |
D460G |
probably damaging |
Het |
Ankrd9 |
T |
C |
12: 110,943,933 (GRCm39) |
M1V |
probably null |
Het |
Anks1 |
T |
C |
17: 28,273,681 (GRCm39) |
I977T |
probably damaging |
Het |
Bcar1 |
T |
C |
8: 112,437,839 (GRCm39) |
D767G |
possibly damaging |
Het |
Bcl6 |
A |
T |
16: 23,793,641 (GRCm39) |
I102N |
probably damaging |
Het |
Cacna2d2 |
G |
A |
9: 107,392,078 (GRCm39) |
G473D |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,140,903 (GRCm39) |
H3148Q |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,940,141 (GRCm39) |
V1263A |
possibly damaging |
Het |
Crtc2 |
T |
C |
3: 90,166,455 (GRCm39) |
|
probably benign |
Het |
D130043K22Rik |
G |
A |
13: 25,067,738 (GRCm39) |
G825S |
possibly damaging |
Het |
Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
Dnah17 |
G |
T |
11: 117,963,793 (GRCm39) |
Y2506* |
probably null |
Het |
Enam |
T |
A |
5: 88,652,418 (GRCm39) |
L1309* |
probably null |
Het |
Fbxo15 |
G |
A |
18: 84,982,317 (GRCm39) |
|
probably null |
Het |
Fgfbp1 |
T |
C |
5: 44,136,828 (GRCm39) |
K155E |
probably damaging |
Het |
Foxj2 |
C |
T |
6: 122,815,540 (GRCm39) |
|
probably benign |
Het |
Fuca1 |
A |
G |
4: 135,666,530 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,184 (GRCm39) |
|
noncoding transcript |
Het |
H2-Eb2 |
C |
T |
17: 34,544,661 (GRCm39) |
|
probably benign |
Het |
Insr |
A |
T |
8: 3,209,578 (GRCm39) |
F1168L |
probably damaging |
Het |
Isx |
T |
A |
8: 75,619,333 (GRCm39) |
V175E |
possibly damaging |
Het |
Kansl3 |
T |
C |
1: 36,407,070 (GRCm39) |
|
probably benign |
Het |
Lin9 |
T |
C |
1: 180,494,932 (GRCm39) |
I218T |
probably damaging |
Het |
Llgl2 |
C |
A |
11: 115,736,205 (GRCm39) |
A126D |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,876,083 (GRCm39) |
E488G |
possibly damaging |
Het |
Maml3 |
A |
G |
3: 51,597,639 (GRCm39) |
V369A |
possibly damaging |
Het |
Mthfsl |
A |
G |
9: 88,597,708 (GRCm39) |
I14T |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,119,923 (GRCm39) |
|
probably benign |
Het |
Nfkbil1 |
T |
C |
17: 35,439,722 (GRCm39) |
R264G |
possibly damaging |
Het |
Or4c3d |
A |
G |
2: 89,882,038 (GRCm39) |
L210P |
probably damaging |
Het |
Pde5a |
G |
T |
3: 122,542,031 (GRCm39) |
A174S |
probably benign |
Het |
Plch1 |
A |
T |
3: 63,606,382 (GRCm39) |
I1173N |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,035,512 (GRCm39) |
R1171L |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,172,131 (GRCm39) |
D595G |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,042,742 (GRCm39) |
|
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,680,763 (GRCm39) |
|
probably null |
Het |
Sbno2 |
T |
A |
10: 79,908,202 (GRCm39) |
T66S |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,862,338 (GRCm39) |
I326F |
probably damaging |
Het |
Slc12a1 |
T |
C |
2: 125,030,190 (GRCm39) |
|
probably null |
Het |
Slc18a2 |
A |
G |
19: 59,264,988 (GRCm39) |
E324G |
probably benign |
Het |
Slc40a1 |
A |
T |
1: 45,950,495 (GRCm39) |
M319K |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,956,608 (GRCm39) |
Y287H |
possibly damaging |
Het |
Stx4a |
A |
G |
7: 127,441,672 (GRCm39) |
E63G |
possibly damaging |
Het |
Sv2a |
T |
C |
3: 96,098,032 (GRCm39) |
F545S |
probably benign |
Het |
Svop |
T |
C |
5: 114,203,589 (GRCm39) |
D65G |
probably benign |
Het |
Tex30 |
A |
T |
1: 44,126,182 (GRCm39) |
S182R |
probably benign |
Het |
Tmem121b |
T |
C |
6: 120,469,298 (GRCm39) |
D473G |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,210,941 (GRCm39) |
|
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,769,679 (GRCm39) |
S490P |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,115,746 (GRCm39) |
T82A |
probably benign |
Het |
Vps16 |
A |
G |
2: 130,283,573 (GRCm39) |
D589G |
possibly damaging |
Het |
|
Other mutations in Zscan29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01935:Zscan29
|
APN |
2 |
121,000,538 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01938:Zscan29
|
APN |
2 |
120,996,690 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02370:Zscan29
|
APN |
2 |
120,994,314 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02585:Zscan29
|
APN |
2 |
120,994,357 (GRCm39) |
nonsense |
probably null |
|
R0284:Zscan29
|
UTSW |
2 |
120,997,214 (GRCm39) |
unclassified |
probably benign |
|
R0842:Zscan29
|
UTSW |
2 |
120,991,960 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1245:Zscan29
|
UTSW |
2 |
120,996,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1586:Zscan29
|
UTSW |
2 |
120,991,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Zscan29
|
UTSW |
2 |
120,995,260 (GRCm39) |
missense |
probably benign |
0.06 |
R1958:Zscan29
|
UTSW |
2 |
121,000,289 (GRCm39) |
critical splice donor site |
probably null |
|
R2073:Zscan29
|
UTSW |
2 |
120,991,336 (GRCm39) |
nonsense |
probably null |
|
R2085:Zscan29
|
UTSW |
2 |
121,000,427 (GRCm39) |
nonsense |
probably null |
|
R2145:Zscan29
|
UTSW |
2 |
121,000,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Zscan29
|
UTSW |
2 |
120,999,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R2875:Zscan29
|
UTSW |
2 |
120,994,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R2876:Zscan29
|
UTSW |
2 |
120,994,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R3861:Zscan29
|
UTSW |
2 |
120,991,212 (GRCm39) |
missense |
probably benign |
0.01 |
R4244:Zscan29
|
UTSW |
2 |
120,995,275 (GRCm39) |
splice site |
probably null |
|
R4245:Zscan29
|
UTSW |
2 |
120,995,275 (GRCm39) |
splice site |
probably null |
|
R4447:Zscan29
|
UTSW |
2 |
121,000,367 (GRCm39) |
splice site |
probably null |
|
R4662:Zscan29
|
UTSW |
2 |
120,997,096 (GRCm39) |
missense |
probably benign |
0.26 |
R4757:Zscan29
|
UTSW |
2 |
120,991,392 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4777:Zscan29
|
UTSW |
2 |
120,999,805 (GRCm39) |
missense |
probably damaging |
0.96 |
R4905:Zscan29
|
UTSW |
2 |
120,991,864 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4970:Zscan29
|
UTSW |
2 |
120,999,676 (GRCm39) |
splice site |
probably null |
|
R5860:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5861:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5917:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Zscan29
|
UTSW |
2 |
120,994,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Zscan29
|
UTSW |
2 |
120,991,917 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7214:Zscan29
|
UTSW |
2 |
120,999,761 (GRCm39) |
nonsense |
probably null |
|
R7326:Zscan29
|
UTSW |
2 |
120,991,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7997:Zscan29
|
UTSW |
2 |
120,991,221 (GRCm39) |
missense |
probably benign |
0.01 |
R8787:Zscan29
|
UTSW |
2 |
120,996,876 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Zscan29
|
UTSW |
2 |
120,994,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |