Incidental Mutation 'R8214:Zscan5b'
| ID |
636306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan5b
|
| Ensembl Gene |
ENSMUSG00000058028 |
| Gene Name |
zinc finger and SCAN domain containing 5B |
| Synonyms |
Zfp371, Zfg1 |
| MMRRC Submission |
067656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6225277-6242416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6236946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 232
(P232S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072662]
[ENSMUST00000155314]
[ENSMUST00000165445]
|
| AlphaFold |
B2RTN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072662
AA Change: P232S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: P232S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
31 |
121 |
1.6e-25 |
PFAM |
|
low complexity region
|
157 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
314 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
326 |
348 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
1.06e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155314
|
| SMART Domains |
Protein: ENSMUSP00000118508
Gene: ENSMUSG00000058028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
31 |
121 |
4.1e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165445
AA Change: P232S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: P232S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
33 |
120 |
1e-25 |
PFAM |
|
low complexity region
|
157 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
314 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
326 |
348 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
1.06e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,177,447 (GRCm39) |
R52Q |
|
Het |
| Abcc3 |
C |
T |
11: 94,254,344 (GRCm39) |
R718H |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,738,253 (GRCm39) |
M1166V |
probably benign |
Het |
| Abhd16b |
C |
T |
2: 181,135,983 (GRCm39) |
T295I |
probably damaging |
Het |
| Amph |
A |
G |
13: 19,288,468 (GRCm39) |
N319S |
possibly damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,313,944 (GRCm39) |
D425G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,609 (GRCm39) |
S316P |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,431,921 (GRCm39) |
S649P |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,444,196 (GRCm39) |
S411P |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,228,215 (GRCm39) |
E987G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,021,711 (GRCm39) |
D3537G |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,292,642 (GRCm39) |
W126R |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,265,015 (GRCm39) |
V27A |
probably benign |
Het |
| Kctd21 |
T |
C |
7: 96,996,548 (GRCm39) |
L7P |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,044,854 (GRCm39) |
T216I |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,257 (GRCm39) |
M87K |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,177,691 (GRCm39) |
V1646A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,592 (GRCm39) |
T359A |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,356,685 (GRCm39) |
K1092E |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,729 (GRCm39) |
E162G |
probably benign |
Het |
| Or10ak11 |
A |
T |
4: 118,687,288 (GRCm39) |
F117L |
probably benign |
Het |
| Or52e2 |
A |
C |
7: 102,804,613 (GRCm39) |
S114A |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,174 (GRCm39) |
S109T |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,454,636 (GRCm39) |
V339L |
probably benign |
Het |
| Plec |
A |
G |
15: 76,076,484 (GRCm39) |
W145R |
unknown |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,662,139 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
A |
G |
18: 58,070,791 (GRCm39) |
I1048V |
probably benign |
Het |
| Sult2a4 |
A |
G |
7: 13,723,401 (GRCm39) |
I39T |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,614 (GRCm39) |
V2247A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,645,247 (GRCm39) |
R2385C |
probably damaging |
Het |
| Tomm70a |
G |
T |
16: 56,942,330 (GRCm39) |
A36S |
unknown |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,347 (GRCm39) |
I636V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,824,714 (GRCm39) |
I629M |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,424 (GRCm39) |
E66G |
noncoding transcript |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,301 (GRCm39) |
V179I |
probably benign |
Het |
| Vmn2r105 |
T |
G |
17: 20,448,775 (GRCm39) |
E134A |
probably benign |
Het |
| Wdr70 |
G |
A |
15: 7,916,851 (GRCm39) |
A522V |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,142,995 (GRCm39) |
C234S |
probably damaging |
Het |
|
| Other mutations in Zscan5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01511:Zscan5b
|
APN |
7 |
6,234,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0505:Zscan5b
|
UTSW |
7 |
6,242,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0535:Zscan5b
|
UTSW |
7 |
6,236,911 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1401:Zscan5b
|
UTSW |
7 |
6,233,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Zscan5b
|
UTSW |
7 |
6,236,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1613:Zscan5b
|
UTSW |
7 |
6,233,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Zscan5b
|
UTSW |
7 |
6,242,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Zscan5b
|
UTSW |
7 |
6,241,965 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2191:Zscan5b
|
UTSW |
7 |
6,234,442 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3177:Zscan5b
|
UTSW |
7 |
6,234,345 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3277:Zscan5b
|
UTSW |
7 |
6,234,345 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4911:Zscan5b
|
UTSW |
7 |
6,242,189 (GRCm39) |
makesense |
probably null |
|
|
R5624:Zscan5b
|
UTSW |
7 |
6,233,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8213:Zscan5b
|
UTSW |
7 |
6,236,946 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8326:Zscan5b
|
UTSW |
7 |
6,236,946 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8327:Zscan5b
|
UTSW |
7 |
6,236,946 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8328:Zscan5b
|
UTSW |
7 |
6,236,946 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8985:Zscan5b
|
UTSW |
7 |
6,241,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9474:Zscan5b
|
UTSW |
7 |
6,234,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9717:Zscan5b
|
UTSW |
7 |
6,234,525 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0018:Zscan5b
|
UTSW |
7 |
6,233,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0024:Zscan5b
|
UTSW |
7 |
6,241,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:Zscan5b
|
UTSW |
7 |
6,241,614 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Zscan5b
|
UTSW |
7 |
6,233,216 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGAGTGTAGTGCGCCG -3'
(R):5'- CTGCAATTCGGGTATAAAGTGAAC -3'
Sequencing Primer
(F):5'- GCCGATCCAGACAGCTTTCTG -3'
(R):5'- TCAACTCTGGTGTTGGCT -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation