Incidental Mutation 'R0842:Zscan29'
| ID |
77197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan29
|
| Ensembl Gene |
ENSMUSG00000050619 |
| Gene Name |
zinc finger SCAN domains 29 |
| Synonyms |
Zfp690 |
| MMRRC Submission |
039021-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R0842 (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 A
at 120991960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 609
(R609S)
|
| 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
AA Change: E508V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
AA Change: E508V
| 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 |
possibly damaging
Transcript: ENSMUST00000110661
AA Change: R574S
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: R574S
| 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 |
possibly damaging
Transcript: ENSMUST00000163766
AA Change: R609S
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: R609S
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
| Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
| Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
| Cdhr18 |
G |
A |
14: 13,856,686 (GRCm38) |
S475L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,335,768 (GRCm39) |
Y410C |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
| Eme1 |
C |
T |
11: 94,541,700 (GRCm39) |
A41T |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Ggt6 |
T |
A |
11: 72,328,088 (GRCm39) |
L158* |
probably null |
Het |
| Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
| Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
T |
A |
17: 68,793,957 (GRCm39) |
D320E |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
| Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,616,574 (GRCm39) |
E281D |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
| Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
| Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
| Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
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 |
|
|
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'- CATGGGAGACCGGATACCTGAGAT -3'
(R):5'- TTCAAAACGTGGAACTCACTGACCA -3'
Sequencing Primer
(F):5'- ATAAGGTCTGTCTTCCAAGCCTG -3'
(R):5'- GTGGAACTCACTGACCATTTATCTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation