Incidental Mutation 'R5917:Zscan29'
ID |
461375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
044114-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R5917 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 120994518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 489
(T489N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079024]
[ENSMUST00000110661]
[ENSMUST00000146243]
[ENSMUST00000163766]
|
AlphaFold |
E9Q5B4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079024
AA Change: T454N
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078033 Gene: ENSMUSG00000050619 AA Change: T454N
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: T454N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106289 Gene: ENSMUSG00000050619 AA Change: T454N
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: T489N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619 AA Change: T489N
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 |
0.1673 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
Dlgap4 |
A |
G |
2: 156,546,460 (GRCm39) |
D376G |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
Lgi4 |
C |
T |
7: 30,759,603 (GRCm39) |
T53M |
possibly damaging |
Het |
Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,879,097 (GRCm39) |
V884A |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,619 (GRCm39) |
V643D |
probably damaging |
Het |
Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,572 (GRCm39) |
K351E |
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
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 |
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 |
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'- CTGGTTCTCTGGAGGCAACAAG -3'
(R):5'- TCCTAGAAGCCGGCAGTAAAAC -3'
Sequencing Primer
(F):5'- CTCTGGAGGCAACAAGAAACTGTTTC -3'
(R):5'- AGGTGATGCTGAAATCTCTCTTC -3'
|
Posted On |
2017-02-28 |