Incidental Mutation 'R2875:Zscan29'
ID |
260500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
040463-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R2875 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120994581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 468
(Y468C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079024]
[ENSMUST00000110661]
[ENSMUST00000146243]
[ENSMUST00000163766]
|
AlphaFold |
E9Q5B4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079024
AA Change: Y433C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078033 Gene: ENSMUSG00000050619 AA Change: Y433C
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 damaging
Transcript: ENSMUST00000110661
AA Change: Y433C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106289 Gene: ENSMUSG00000050619 AA Change: Y433C
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: 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 |
probably damaging
Transcript: ENSMUST00000163766
AA Change: Y468C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619 AA Change: Y468C
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 |
0.9267 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (1/1) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,080,177 (GRCm39) |
K16* |
probably null |
Het |
Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,969,904 (GRCm39) |
D585E |
probably damaging |
Het |
Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,414,625 (GRCm39) |
I9V |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,598,907 (GRCm39) |
N995S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 66,059,287 (GRCm39) |
G3C |
possibly damaging |
Het |
Dock2 |
A |
G |
11: 34,609,712 (GRCm39) |
S243P |
probably damaging |
Het |
Eif2ak3 |
T |
C |
6: 70,860,623 (GRCm39) |
S400P |
probably damaging |
Het |
Eno1b |
A |
G |
18: 48,180,851 (GRCm39) |
K343R |
possibly damaging |
Het |
Grk6 |
A |
G |
13: 55,600,117 (GRCm39) |
H271R |
probably damaging |
Het |
H2-Ab1 |
A |
C |
17: 34,482,286 (GRCm39) |
M1L |
probably benign |
Het |
Irf8 |
C |
A |
8: 121,481,202 (GRCm39) |
P262Q |
probably damaging |
Het |
Kcnc3 |
G |
T |
7: 44,240,961 (GRCm39) |
G218* |
probably null |
Het |
Krt9 |
C |
A |
11: 100,080,031 (GRCm39) |
G454* |
probably null |
Het |
Mgrn1 |
C |
T |
16: 4,725,280 (GRCm39) |
T47I |
possibly damaging |
Het |
Ndst1 |
A |
T |
18: 60,823,119 (GRCm39) |
F816I |
probably damaging |
Het |
Or11g26 |
T |
A |
14: 50,753,269 (GRCm39) |
W203R |
probably benign |
Het |
Or5h25 |
A |
T |
16: 58,930,165 (GRCm39) |
D269E |
probably benign |
Het |
Phf12 |
C |
A |
11: 77,900,573 (GRCm39) |
T223N |
probably damaging |
Het |
Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
Rad54l |
C |
T |
4: 115,959,050 (GRCm39) |
R382Q |
probably benign |
Het |
Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
Smarca4 |
A |
T |
9: 21,553,876 (GRCm39) |
K387N |
possibly damaging |
Het |
St3gal5 |
A |
G |
6: 72,124,114 (GRCm39) |
M214V |
possibly damaging |
Het |
Stk25 |
T |
C |
1: 93,556,973 (GRCm39) |
D15G |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,217 (GRCm39) |
D69G |
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,589,438 (GRCm39) |
N21272I |
probably damaging |
Het |
Uchl3 |
A |
G |
14: 101,905,996 (GRCm39) |
H153R |
probably benign |
Het |
Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,808,304 (GRCm39) |
S251P |
probably damaging |
Het |
Zeb1 |
GGA |
GGAAGA |
18: 5,772,859 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTTGGGCACTCACTAAAGC -3'
(R):5'- AGGCCTCTTGCATGTTTAAGG -3'
Sequencing Primer
(F):5'- GCATCCATTTCTTCAAAGAAGGGGC -3'
(R):5'- AGCTAACTGGTTTTCCTAGAAGCCG -3'
|
Posted On |
2015-01-23 |