Incidental Mutation 'R2201:Zscan29'
ID |
238637 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
040203-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R2201 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 120999883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 106
(V106G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000079024]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000110661]
[ENSMUST00000163766]
[ENSMUST00000186659]
[ENSMUST00000146243]
|
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 |
probably benign
Transcript: ENSMUST00000079024
AA Change: V106G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000078033 Gene: ENSMUSG00000050619 AA Change: V106G
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: V106G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106289 Gene: ENSMUSG00000050619 AA Change: V106G
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 |
probably damaging
Transcript: ENSMUST00000163766
AA Change: V106G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619 AA Change: V106G
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: ENSMUST00000156370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.5449 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,524,268 (GRCm39) |
N1121K |
probably null |
Het |
Actr10 |
A |
G |
12: 71,006,795 (GRCm39) |
N351D |
probably damaging |
Het |
Adcy7 |
G |
A |
8: 89,044,606 (GRCm39) |
A500T |
probably damaging |
Het |
Ankrd35 |
T |
C |
3: 96,586,564 (GRCm39) |
I80T |
possibly damaging |
Het |
Arap2 |
G |
A |
5: 62,864,028 (GRCm39) |
T532I |
probably damaging |
Het |
Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
T |
C |
5: 43,841,375 (GRCm39) |
|
probably benign |
Het |
Cep85l |
A |
T |
10: 53,224,827 (GRCm39) |
M254K |
probably benign |
Het |
Clic4 |
A |
G |
4: 134,950,850 (GRCm39) |
S114P |
probably damaging |
Het |
Ctsj |
T |
C |
13: 61,150,363 (GRCm39) |
Y213C |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,206 (GRCm39) |
V284A |
probably damaging |
Het |
Dnase2b |
T |
A |
3: 146,290,443 (GRCm39) |
D176V |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,729,111 (GRCm39) |
N663K |
probably damaging |
Het |
Dst |
T |
A |
1: 34,235,002 (GRCm39) |
S3694T |
possibly damaging |
Het |
Emilin1 |
T |
C |
5: 31,073,036 (GRCm39) |
S158P |
probably benign |
Het |
Eng |
T |
C |
2: 32,563,752 (GRCm39) |
|
probably benign |
Het |
Entrep2 |
T |
A |
7: 64,409,141 (GRCm39) |
M418L |
probably benign |
Het |
Fdxr |
C |
A |
11: 115,161,208 (GRCm39) |
V223L |
probably benign |
Het |
Fhip1b |
T |
C |
7: 105,037,398 (GRCm39) |
N395S |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,423,994 (GRCm39) |
M3148L |
probably benign |
Het |
Hip1 |
A |
T |
5: 135,460,584 (GRCm39) |
D114E |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,706,183 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,437,179 (GRCm39) |
N487K |
probably damaging |
Het |
Krt6a |
A |
G |
15: 101,601,606 (GRCm39) |
F172L |
probably benign |
Het |
Megf8 |
C |
T |
7: 25,040,170 (GRCm39) |
R1034W |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,236,075 (GRCm39) |
D451N |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,125,225 (GRCm39) |
T1838A |
possibly damaging |
Het |
N4bp2l2 |
A |
T |
5: 150,585,073 (GRCm39) |
D302E |
probably damaging |
Het |
Nbeal2 |
T |
A |
9: 110,459,318 (GRCm39) |
I1930F |
probably benign |
Het |
Nhsl3 |
A |
G |
4: 129,116,432 (GRCm39) |
V732A |
probably benign |
Het |
Npas4 |
A |
T |
19: 5,037,392 (GRCm39) |
Y301N |
probably benign |
Het |
Nt5m |
A |
G |
11: 59,766,741 (GRCm39) |
K211E |
probably benign |
Het |
Pfn4 |
A |
G |
12: 4,824,382 (GRCm39) |
|
probably null |
Het |
Pfpl |
A |
C |
19: 12,407,843 (GRCm39) |
D698A |
probably benign |
Het |
Pias1 |
G |
T |
9: 62,859,137 (GRCm39) |
H124N |
possibly damaging |
Het |
Pja2 |
A |
T |
17: 64,618,162 (GRCm39) |
|
probably benign |
Het |
Polr3e |
T |
C |
7: 120,531,465 (GRCm39) |
Y185H |
probably benign |
Het |
Pomc |
T |
C |
12: 4,010,275 (GRCm39) |
L172S |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 71,875,533 (GRCm39) |
T129A |
probably damaging |
Het |
Reep1 |
T |
C |
6: 71,750,278 (GRCm39) |
S97P |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,029,067 (GRCm39) |
I595N |
possibly damaging |
Het |
Sap30 |
T |
C |
8: 57,938,506 (GRCm39) |
|
probably null |
Het |
Slc1a7 |
T |
C |
4: 107,850,203 (GRCm39) |
Y105H |
probably damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,102 (GRCm39) |
M68I |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,776,503 (GRCm39) |
Y791F |
probably benign |
Het |
Tdrd1 |
C |
A |
19: 56,847,094 (GRCm39) |
H912N |
probably benign |
Het |
Tdrd1 |
C |
A |
19: 56,847,093 (GRCm39) |
S911R |
probably benign |
Het |
Tgm7 |
A |
T |
2: 120,929,062 (GRCm39) |
F278Y |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,283,039 (GRCm39) |
T310A |
probably damaging |
Het |
Tmem256 |
T |
C |
11: 69,730,271 (GRCm39) |
I93T |
probably benign |
Het |
Trpm2 |
G |
A |
10: 77,756,305 (GRCm39) |
Q1172* |
probably null |
Het |
Ttll8 |
A |
G |
15: 88,818,156 (GRCm39) |
V173A |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,002,543 (GRCm39) |
S1497G |
possibly damaging |
Het |
Ubr7 |
G |
A |
12: 102,727,764 (GRCm39) |
|
probably null |
Het |
Vmn1r37 |
T |
A |
6: 66,708,878 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r14 |
A |
G |
5: 109,366,698 (GRCm39) |
|
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,444 (GRCm39) |
I707V |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,395,507 (GRCm39) |
R1266G |
probably damaging |
Het |
Wdr87-ps |
T |
A |
7: 29,235,950 (GRCm39) |
|
noncoding transcript |
Het |
Zfhx4 |
A |
G |
3: 5,307,349 (GRCm39) |
N192D |
probably damaging |
Het |
Zfp638 |
G |
C |
6: 83,906,500 (GRCm39) |
D222H |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCACCGCTCCTTTGAAAAG -3'
(R):5'- GGGAAGTTTCTTTTCCAGCTGC -3'
Sequencing Primer
(F):5'- AAAAGGTCTGAGATTCTCCTTTGG -3'
(R):5'- CCAGCTGCTATTTGGGTTTC -3'
|
Posted On |
2014-10-02 |