Incidental Mutation 'R4905:Zscan29'
| ID |
378084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan29
|
| Ensembl Gene |
ENSMUSG00000050619 |
| Gene Name |
zinc finger SCAN domains 29 |
| Synonyms |
Zfp690 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R4905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120988754-121001606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 120991864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Threonine
at position 540
(R540T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078033
(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 |
possibly damaging
Transcript: ENSMUST00000079024
AA Change: R540T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
AA Change: R540T
| 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: ENSMUST00000110661
AA Change: K606N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: K606N
| 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 |
probably benign
Transcript: ENSMUST00000163766
AA Change: K641N
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: K641N
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,448,680 (GRCm39) |
|
probably null |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc5 |
A |
G |
16: 20,218,678 (GRCm39) |
S235P |
probably damaging |
Het |
| Abcc6 |
T |
C |
7: 45,644,649 (GRCm39) |
N842S |
probably benign |
Het |
| Acbd6 |
G |
A |
1: 155,500,669 (GRCm39) |
V210I |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,576,192 (GRCm39) |
V2130D |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,207 (GRCm39) |
E213G |
probably damaging |
Het |
| Alyref |
T |
G |
11: 120,486,879 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
G |
T |
5: 122,955,973 (GRCm39) |
N152K |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,856,315 (GRCm39) |
D416E |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,508,454 (GRCm39) |
V354E |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,364,162 (GRCm39) |
E844G |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,728,802 (GRCm39) |
R590H |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,254 (GRCm39) |
S233P |
possibly damaging |
Het |
| Cdca7 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
2: 72,312,205 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,644,623 (GRCm39) |
S1222P |
probably damaging |
Het |
| Dhfr |
G |
A |
13: 92,502,282 (GRCm39) |
G118S |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,764,950 (GRCm39) |
R1414* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,614,269 (GRCm39) |
D315G |
probably benign |
Het |
| Eogt |
T |
C |
6: 97,119,792 (GRCm39) |
R139G |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,856,408 (GRCm39) |
K2065M |
possibly damaging |
Het |
| Fh1 |
C |
T |
1: 175,446,639 (GRCm39) |
G79E |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,374,304 (GRCm39) |
Y421H |
probably damaging |
Het |
| Glipr1 |
C |
A |
10: 111,821,545 (GRCm39) |
R219L |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,891,369 (GRCm39) |
D360G |
probably benign |
Het |
| Ift81 |
C |
T |
5: 122,729,142 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
A |
G |
12: 4,684,583 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,198,998 (GRCm39) |
H55Q |
probably benign |
Het |
| Mcidas |
C |
T |
13: 113,134,038 (GRCm39) |
T174M |
possibly damaging |
Het |
| Mcidas |
C |
A |
13: 113,130,951 (GRCm39) |
A92E |
possibly damaging |
Het |
| Mmp25 |
C |
A |
17: 23,863,022 (GRCm39) |
G130* |
probably null |
Het |
| Myh11 |
G |
A |
16: 14,068,387 (GRCm39) |
T211M |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,800,298 (GRCm39) |
D1458G |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,139,104 (GRCm39) |
T154A |
probably damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,068,039 (GRCm39) |
I620T |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,572,329 (GRCm39) |
Y134F |
probably benign |
Het |
| Nup50l |
T |
A |
6: 96,142,911 (GRCm39) |
R44S |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,613 (GRCm39) |
N300S |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,721 (GRCm39) |
I36N |
probably damaging |
Het |
| Or5b106 |
C |
A |
19: 13,123,541 (GRCm39) |
A161S |
probably benign |
Het |
| Or6c209 |
T |
A |
10: 129,483,792 (GRCm39) |
V265E |
possibly damaging |
Het |
| Pax9 |
G |
T |
12: 56,743,411 (GRCm39) |
R19S |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Plxnb2 |
G |
T |
15: 89,041,614 (GRCm39) |
T1730K |
probably damaging |
Het |
| Rac1 |
A |
G |
5: 143,502,907 (GRCm39) |
|
probably null |
Het |
| Samsn1 |
G |
T |
16: 75,673,353 (GRCm39) |
F174L |
possibly damaging |
Het |
| Scaf1 |
G |
A |
7: 44,662,129 (GRCm39) |
T86M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,950,428 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,308 (GRCm39) |
I2826T |
probably benign |
Het |
| Tex36 |
A |
G |
7: 133,189,182 (GRCm39) |
V130A |
probably damaging |
Het |
| Tigd5 |
A |
G |
15: 75,783,252 (GRCm39) |
H538R |
probably damaging |
Het |
| Tlr3 |
C |
A |
8: 45,852,260 (GRCm39) |
|
probably null |
Het |
| Tubb2b |
A |
T |
13: 34,312,187 (GRCm39) |
I202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,587,674 (GRCm39) |
V1453A |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,507,071 (GRCm39) |
T608S |
probably benign |
Het |
| Vrk1 |
C |
A |
12: 106,018,087 (GRCm39) |
H119N |
probably damaging |
Het |
| Wdr53 |
T |
A |
16: 32,075,476 (GRCm39) |
M227K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,875,746 (GRCm39) |
D129G |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,992 (GRCm39) |
I224T |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,326 (GRCm39) |
E30D |
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 |
|
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 |
|
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'- TGAGCTCTGGTTGAAGCG -3'
(R):5'- GGTACATTTGTTAGGGAAATGAATAAC -3'
Sequencing Primer
(F):5'- TGGAACTGTCACGGAAACCTTTC -3'
(R):5'- GTGTTCTTGTATTAGGTTTCGAGGC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation