Incidental Mutation 'R1084:Zscan4d'
| ID |
84953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan4d
|
| Ensembl Gene |
ENSMUSG00000090714 |
| Gene Name |
zinc finger and SCAN domain containing 4D |
| Synonyms |
EG545913 |
| MMRRC Submission |
039170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R1084 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10895570-10900075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10898932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 115
(L115Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067210]
[ENSMUST00000165848]
|
| AlphaFold |
A7KBS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067210
AA Change: L115Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: L115Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
39 |
126 |
2.5e-19 |
PFAM |
|
low complexity region
|
181 |
197 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
395 |
417 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
7.68e0 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
480 |
503 |
3.83e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165848
AA Change: L115Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: L115Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
43 |
122 |
1.3e-17 |
PFAM |
|
low complexity region
|
181 |
197 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
395 |
417 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
7.68e0 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
480 |
503 |
3.83e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209835
|
| Meta Mutation Damage Score |
0.8477 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
C |
T |
9: 44,188,766 (GRCm39) |
V476M |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,163,797 (GRCm39) |
S478G |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,573 (GRCm39) |
T3A |
probably benign |
Het |
| Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
| Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
| Glcci1 |
C |
T |
6: 8,573,221 (GRCm39) |
Q50* |
probably null |
Het |
| Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
| Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
| Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
| Mbd1 |
A |
G |
18: 74,402,603 (GRCm39) |
Y35C |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
| Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
| Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
| Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
| Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
| Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
| Zfp276 |
G |
A |
8: 123,981,462 (GRCm39) |
R3Q |
probably damaging |
Het |
|
| Other mutations in Zscan4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Zscan4d
|
APN |
7 |
10,896,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01576:Zscan4d
|
APN |
7 |
10,896,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01926:Zscan4d
|
APN |
7 |
10,898,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02008:Zscan4d
|
APN |
7 |
10,896,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02245:Zscan4d
|
APN |
7 |
10,896,716 (GRCm39) |
missense |
probably benign |
|
|
IGL02473:Zscan4d
|
APN |
7 |
10,896,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02805:Zscan4d
|
APN |
7 |
10,898,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL03010:Zscan4d
|
APN |
7 |
10,897,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03383:Zscan4d
|
APN |
7 |
10,896,692 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0626:Zscan4d
|
UTSW |
7 |
10,898,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1457:Zscan4d
|
UTSW |
7 |
10,898,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2426:Zscan4d
|
UTSW |
7 |
10,899,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2912:Zscan4d
|
UTSW |
7 |
10,896,614 (GRCm39) |
missense |
probably benign |
|
|
R3736:Zscan4d
|
UTSW |
7 |
10,896,803 (GRCm39) |
missense |
probably benign |
|
|
R4379:Zscan4d
|
UTSW |
7 |
10,898,905 (GRCm39) |
missense |
probably benign |
|
|
R4580:Zscan4d
|
UTSW |
7 |
10,896,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4765:Zscan4d
|
UTSW |
7 |
10,896,594 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4975:Zscan4d
|
UTSW |
7 |
10,899,274 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R6452:Zscan4d
|
UTSW |
7 |
10,895,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6570:Zscan4d
|
UTSW |
7 |
10,895,927 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6680:Zscan4d
|
UTSW |
7 |
10,896,366 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7726:Zscan4d
|
UTSW |
7 |
10,899,169 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7772:Zscan4d
|
UTSW |
7 |
10,896,770 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8282:Zscan4d
|
UTSW |
7 |
10,896,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8320:Zscan4d
|
UTSW |
7 |
10,799,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9671:Zscan4d
|
UTSW |
7 |
10,898,945 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9770:Zscan4d
|
UTSW |
7 |
10,896,036 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTAAAGTCCTCCCCAGGACAATTC -3'
(R):5'- GTAACAATGGCTGCTGGGCAAC -3'
Sequencing Primer
(F):5'- AACCTAATTGATAGGCTCCTTTCTG -3'
(R):5'- TCAGGAGCTGCAAAGTCTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation