Incidental Mutation 'R4244:Zscan29'
ID |
320334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
041060-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R4244 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
splice site (347 bp from exon) |
DNA Base Change (assembly) |
C to T
at 120995275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079024]
[ENSMUST00000110661]
[ENSMUST00000146243]
[ENSMUST00000163766]
|
AlphaFold |
E9Q5B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079024
|
SMART Domains |
Protein: ENSMUSP00000078033 Gene: ENSMUSG00000050619
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: ENSMUST00000110661
|
SMART Domains |
Protein: ENSMUSP00000106289 Gene: ENSMUSG00000050619
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 |
probably null
Transcript: ENSMUST00000146243
|
SMART Domains |
Protein: ENSMUSP00000120997 Gene: ENSMUSG00000050619
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156370
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163766
AA Change: C416Y
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619 AA Change: C416Y
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
Mfsd2b |
G |
T |
12: 4,924,356 (GRCm39) |
|
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
Or2y3 |
C |
T |
17: 38,393,321 (GRCm39) |
V183I |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,979,632 (GRCm39) |
T244A |
probably benign |
Het |
Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
Ptpn5 |
C |
T |
7: 46,741,296 (GRCm39) |
W38* |
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
Sh3d21 |
C |
T |
4: 126,044,511 (GRCm39) |
|
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
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 |
IGL02220:Zscan29
|
APN |
2 |
120,997,170 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCGTCTTTCTACATGATCATTGG -3'
(R):5'- CCCCTGACAAATGGCTTTTCTAG -3'
Sequencing Primer
(F):5'- GACTGTGTGGCACCATCTCATG -3'
(R):5'- ACAAATGGCTTTTCTAGTTGGGATC -3'
|
Posted On |
2015-06-12 |