Incidental Mutation 'R3861:Zscan29'
ID |
276326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
040788-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R3861 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 120991212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 859
(R859G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028702]
[ENSMUST00000066155]
[ENSMUST00000079024]
[ENSMUST00000110661]
[ENSMUST00000110665]
[ENSMUST00000119031]
[ENSMUST00000146243]
[ENSMUST00000163766]
|
AlphaFold |
E9Q5B4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028702
|
SMART Domains |
Protein: ENSMUSP00000028702 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
1 |
276 |
1.8e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066155
|
SMART Domains |
Protein: ENSMUSP00000067133 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
16 |
343 |
1.6e-36 |
PFAM |
|
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
AA Change: R824G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000106289 Gene: ENSMUSG00000050619 AA Change: R824G
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 benign
Transcript: ENSMUST00000110665
|
SMART Domains |
Protein: ENSMUSP00000106293 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
2 |
236 |
4.3e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119031
|
SMART Domains |
Protein: ENSMUSP00000113052 Gene: ENSMUSG00000027259
Domain | Start | End | E-Value | Type |
Pfam:A_deaminase
|
16 |
343 |
3e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146243
|
SMART Domains |
Protein: ENSMUSP00000120997 Gene: ENSMUSG00000050619
Domain | Start | End | E-Value | Type |
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163766
AA Change: R859G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619 AA Change: R859G
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 |
noncoding transcript
Transcript: ENSMUST00000152164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156370
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,216,588 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
Ddx50 |
C |
A |
10: 62,478,725 (GRCm39) |
V154L |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,138,974 (GRCm39) |
I395L |
possibly damaging |
Het |
Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
Mia2 |
G |
T |
12: 59,155,807 (GRCm39) |
V508L |
probably benign |
Het |
Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,265,120 (GRCm39) |
I198T |
possibly damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,286,384 (GRCm39) |
S594P |
probably damaging |
Het |
Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGGCCTCATCTAGATCTGGG -3'
(R):5'- ATCTCAGGTATCCGGTCTCC -3'
Sequencing Primer
(F):5'- GCCTCATCTAGATCTGGGAAGCAC -3'
(R):5'- AAAGGTTTCCGTGACAGTTCC -3'
|
Posted On |
2015-04-06 |