Incidental Mutation 'R0284:Zscan29'
ID |
24583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan29
|
Ensembl Gene |
ENSMUSG00000050619 |
Gene Name |
zinc finger SCAN domains 29 |
Synonyms |
Zfp690 |
MMRRC Submission |
038505-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R0284 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 120997214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000079024]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000110661]
[ENSMUST00000163766]
[ENSMUST00000146243]
[ENSMUST00000186659]
|
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
|
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: 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 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 |
noncoding transcript
Transcript: ENSMUST00000130929
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163766
|
SMART Domains |
Protein: ENSMUSP00000125987 Gene: ENSMUSG00000050619
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 |
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: ENSMUST00000154633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156370
|
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.4%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh6 |
A |
G |
7: 30,013,413 (GRCm39) |
T161A |
probably benign |
Het |
Alox12e |
A |
G |
11: 70,211,725 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
A |
G |
14: 55,339,149 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
T |
15: 96,276,848 (GRCm39) |
|
probably benign |
Het |
Bmp2k |
A |
T |
5: 97,216,314 (GRCm39) |
H604L |
unknown |
Het |
Cacna1a |
A |
T |
8: 85,338,914 (GRCm39) |
M1705L |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,794,062 (GRCm39) |
D1526E |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,467,975 (GRCm39) |
R107G |
possibly damaging |
Het |
Cklf |
T |
C |
8: 104,988,207 (GRCm39) |
|
probably benign |
Het |
Crabp1 |
A |
G |
9: 54,672,210 (GRCm39) |
K9E |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,793,423 (GRCm39) |
D386G |
probably damaging |
Het |
Cyp3a41b |
G |
A |
5: 145,515,014 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,464,684 (GRCm39) |
V393E |
probably damaging |
Het |
Ednrb |
C |
T |
14: 104,057,449 (GRCm39) |
G371D |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 76,994,353 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
T |
13: 31,061,608 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,183,362 (GRCm39) |
|
probably benign |
Het |
Foxo6 |
T |
C |
4: 120,126,199 (GRCm39) |
S199G |
probably benign |
Het |
Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
Gk5 |
A |
T |
9: 96,063,823 (GRCm39) |
|
probably null |
Het |
Gys1 |
A |
T |
7: 45,086,143 (GRCm39) |
|
probably benign |
Het |
Igfbp1 |
T |
C |
11: 7,148,103 (GRCm39) |
S49P |
probably damaging |
Het |
Incenp |
A |
T |
19: 9,871,357 (GRCm39) |
S91T |
unknown |
Het |
Itpkc |
G |
A |
7: 26,913,968 (GRCm39) |
R498* |
probably null |
Het |
Kat6a |
A |
G |
8: 23,429,819 (GRCm39) |
T1725A |
unknown |
Het |
Kiz |
T |
A |
2: 146,705,730 (GRCm39) |
C97S |
probably benign |
Het |
Kri1 |
A |
G |
9: 21,187,848 (GRCm39) |
|
probably benign |
Het |
Lipn |
A |
G |
19: 34,058,106 (GRCm39) |
S276G |
possibly damaging |
Het |
Llgl1 |
A |
G |
11: 60,602,967 (GRCm39) |
T881A |
probably damaging |
Het |
Man1a2 |
T |
C |
3: 100,592,102 (GRCm39) |
H26R |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,876,359 (GRCm39) |
F173I |
probably damaging |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mipol1 |
A |
G |
12: 57,503,855 (GRCm39) |
Q341R |
probably damaging |
Het |
Mllt6 |
G |
T |
11: 97,569,431 (GRCm39) |
A928S |
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nipsnap3a |
C |
T |
4: 52,997,178 (GRCm39) |
T150I |
probably benign |
Het |
Nsl1 |
A |
G |
1: 190,797,427 (GRCm39) |
E97G |
probably damaging |
Het |
Or11j4 |
G |
A |
14: 50,630,452 (GRCm39) |
V80M |
probably damaging |
Het |
Or4f54 |
T |
C |
2: 111,122,931 (GRCm39) |
V106A |
probably benign |
Het |
Or7g18 |
A |
T |
9: 18,786,848 (GRCm39) |
Y72F |
probably benign |
Het |
Or8c11 |
G |
A |
9: 38,289,880 (GRCm39) |
M234I |
probably benign |
Het |
Pakap |
T |
C |
4: 57,855,207 (GRCm39) |
F220L |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,491,572 (GRCm39) |
L552S |
probably damaging |
Het |
Plekhf2 |
T |
C |
4: 10,990,595 (GRCm39) |
|
probably benign |
Het |
Prdm1 |
T |
C |
10: 44,332,622 (GRCm39) |
E96G |
probably damaging |
Het |
Prpf40a |
T |
A |
2: 53,040,659 (GRCm39) |
E608D |
probably damaging |
Het |
Prpf40b |
A |
T |
15: 99,214,274 (GRCm39) |
|
probably benign |
Het |
Rag2 |
T |
C |
2: 101,460,464 (GRCm39) |
V258A |
probably damaging |
Het |
S100a5 |
A |
G |
3: 90,518,881 (GRCm39) |
I68V |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,530,648 (GRCm39) |
|
probably null |
Het |
Slc24a4 |
T |
C |
12: 102,226,740 (GRCm39) |
V492A |
probably damaging |
Het |
Spag6l |
T |
A |
16: 16,598,630 (GRCm39) |
Q287L |
probably damaging |
Het |
Spmip6 |
T |
G |
4: 41,507,538 (GRCm39) |
E150A |
probably damaging |
Het |
Synpo2 |
C |
T |
3: 122,873,383 (GRCm39) |
W211* |
probably null |
Het |
Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Trerf1 |
A |
G |
17: 47,630,471 (GRCm39) |
|
noncoding transcript |
Het |
Ttn |
G |
C |
2: 76,677,048 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,871,372 (GRCm39) |
M1900K |
probably benign |
Het |
Vps41 |
A |
T |
13: 19,037,610 (GRCm39) |
D691V |
probably damaging |
Het |
Zfp518b |
T |
C |
5: 38,829,083 (GRCm39) |
Y974C |
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 |
|
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 |
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'- ACCCAGTGACCCTGTTCCACC -3'
(R):5'- GCTGGAAACTTACCACAGACCACTT -3'
Sequencing Primer
(F):5'- GTTCCACCCAGCAGGTTC -3'
(R):5'- gtccacctgcttctgcc -3'
|
Posted On |
2013-04-16 |