Incidental Mutation 'R4120:Zkscan3'
| ID |
315295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan3
|
| Ensembl Gene |
ENSMUSG00000021327 |
| Gene Name |
zinc finger with KRAB and SCAN domains 3 |
| Synonyms |
Zfp306, 2810435N07Rik, Skz1, Zfp307 |
| MMRRC Submission |
040993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21571173-21586925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21578119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 256
(E256G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070785]
[ENSMUST00000116433]
[ENSMUST00000116434]
[ENSMUST00000117721]
[ENSMUST00000223831]
[ENSMUST00000224820]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070785
|
| SMART Domains |
Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
4.07e-6 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116433
|
| SMART Domains |
Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116434
|
| SMART Domains |
Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
4.07e-6 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.2e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117721
AA Change: E256G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: E256G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
256 |
3.96e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224820
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (55/59) |
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,133,388 (GRCm39) |
E1233* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,872,243 (GRCm39) |
D526G |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,390,600 (GRCm39) |
Y807H |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
A |
G |
2: 158,374,250 (GRCm39) |
M222V |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,387,154 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,256,263 (GRCm39) |
P1535S |
unknown |
Het |
| Dennd2a |
G |
A |
6: 39,442,030 (GRCm39) |
R947C |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,614,846 (GRCm39) |
V217I |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,812 (GRCm39) |
D83G |
possibly damaging |
Het |
| Dppa5a |
A |
T |
9: 78,275,137 (GRCm39) |
M55K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,006,466 (GRCm39) |
V779A |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,934 (GRCm39) |
S353P |
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,589 (GRCm39) |
D391G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,654 (GRCm39) |
K309N |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,748,852 (GRCm39) |
Y375N |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,832,903 (GRCm39) |
S308P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,654,691 (GRCm39) |
Y1065C |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,810,534 (GRCm39) |
I31N |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,864,976 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9951 |
T |
C |
8: 34,522,993 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa2 |
A |
G |
12: 76,452,008 (GRCm39) |
E234G |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,639,584 (GRCm39) |
Y1065* |
probably null |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Map2 |
G |
A |
1: 66,455,063 (GRCm39) |
A1318T |
probably damaging |
Het |
| Mas1 |
A |
T |
17: 13,061,233 (GRCm39) |
N63K |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,739,605 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,133,359 (GRCm39) |
|
noncoding transcript |
Het |
| Oca2 |
A |
T |
7: 55,904,630 (GRCm39) |
D32V |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,221 (GRCm39) |
T6A |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,705 (GRCm39) |
L197S |
possibly damaging |
Het |
| Otub2 |
T |
C |
12: 103,370,489 (GRCm39) |
V257A |
probably damaging |
Het |
| Pink1 |
G |
A |
4: 138,042,822 (GRCm39) |
R461* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,462,935 (GRCm39) |
C901R |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,572 (GRCm39) |
N148K |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,711,637 (GRCm39) |
N107S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,032,427 (GRCm39) |
M376V |
possibly damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,237,542 (GRCm39) |
V81M |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,019,168 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,359,798 (GRCm39) |
Q328L |
probably damaging |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,215 (GRCm39) |
S753P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,630 (GRCm39) |
T366A |
probably benign |
Het |
|
| Other mutations in Zkscan3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Zkscan3
|
APN |
13 |
21,578,261 (GRCm39) |
splice site |
probably benign |
|
|
IGL02406:Zkscan3
|
APN |
13 |
21,572,348 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02725:Zkscan3
|
APN |
13 |
21,579,063 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02741:Zkscan3
|
APN |
13 |
21,578,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
3-1:Zkscan3
|
UTSW |
13 |
21,572,051 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0040:Zkscan3
|
UTSW |
13 |
21,579,090 (GRCm39) |
splice site |
probably null |
|
|
R0040:Zkscan3
|
UTSW |
13 |
21,579,090 (GRCm39) |
splice site |
probably null |
|
|
R0133:Zkscan3
|
UTSW |
13 |
21,578,944 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0660:Zkscan3
|
UTSW |
13 |
21,572,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Zkscan3
|
UTSW |
13 |
21,572,766 (GRCm39) |
missense |
probably benign |
|
|
R1250:Zkscan3
|
UTSW |
13 |
21,572,694 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1671:Zkscan3
|
UTSW |
13 |
21,580,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1926:Zkscan3
|
UTSW |
13 |
21,580,616 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2899:Zkscan3
|
UTSW |
13 |
21,578,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Zkscan3
|
UTSW |
13 |
21,578,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4606:Zkscan3
|
UTSW |
13 |
21,577,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5459:Zkscan3
|
UTSW |
13 |
21,578,982 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5549:Zkscan3
|
UTSW |
13 |
21,578,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5631:Zkscan3
|
UTSW |
13 |
21,578,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Zkscan3
|
UTSW |
13 |
21,580,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Zkscan3
|
UTSW |
13 |
21,572,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7286:Zkscan3
|
UTSW |
13 |
21,578,983 (GRCm39) |
missense |
probably benign |
|
|
R7363:Zkscan3
|
UTSW |
13 |
21,571,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7443:Zkscan3
|
UTSW |
13 |
21,572,608 (GRCm39) |
nonsense |
probably null |
|
|
R7787:Zkscan3
|
UTSW |
13 |
21,572,034 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9008:Zkscan3
|
UTSW |
13 |
21,572,383 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9048:Zkscan3
|
UTSW |
13 |
21,580,686 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9260:Zkscan3
|
UTSW |
13 |
21,578,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9281:Zkscan3
|
UTSW |
13 |
21,579,045 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9300:Zkscan3
|
UTSW |
13 |
21,577,667 (GRCm39) |
missense |
unknown |
|
|
Z1088:Zkscan3
|
UTSW |
13 |
21,572,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCACTGCAACACTGTG -3'
(R):5'- TGCAACCCAGATACTTACCTATTCC -3'
Sequencing Primer
(F):5'- AAGACCTAGCTCATTGTGGC -3'
(R):5'- ATTCCATCTCTTTGGTGGAATTTTAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation