Incidental Mutation 'R2354:Zkscan7'
| ID |
246834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan7
|
| Ensembl Gene |
ENSMUSG00000063488 |
| Gene Name |
zinc finger with KRAB and SCAN domains 7 |
| Synonyms |
Zfp167 |
| MMRRC Submission |
040336-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122715883-122727684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122723892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 287
(D287G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063980]
[ENSMUST00000215872]
|
| AlphaFold |
E9PVW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063980
AA Change: D287G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071695
Gene: ENSMUSG00000063488
AA Change: D287G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
45 |
156 |
1.18e-65 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
8.4e1 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
599 |
621 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
627 |
649 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
655 |
677 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
683 |
705 |
1.04e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216924
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
| Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
| Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
| Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
| Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
|
| Other mutations in Zkscan7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Zkscan7
|
APN |
9 |
122,724,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01650:Zkscan7
|
APN |
9 |
122,723,892 (GRCm39) |
missense |
probably benign |
|
|
IGL01905:Zkscan7
|
APN |
9 |
122,719,826 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02466:Zkscan7
|
APN |
9 |
122,717,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0310:Zkscan7
|
UTSW |
9 |
122,717,958 (GRCm39) |
nonsense |
probably null |
|
|
R0355:Zkscan7
|
UTSW |
9 |
122,717,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Zkscan7
|
UTSW |
9 |
122,719,874 (GRCm39) |
splice site |
probably null |
|
|
R1276:Zkscan7
|
UTSW |
9 |
122,719,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1426:Zkscan7
|
UTSW |
9 |
122,724,228 (GRCm39) |
missense |
probably benign |
|
|
R2055:Zkscan7
|
UTSW |
9 |
122,718,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2195:Zkscan7
|
UTSW |
9 |
122,724,686 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4878:Zkscan7
|
UTSW |
9 |
122,719,865 (GRCm39) |
nonsense |
probably null |
|
|
R5106:Zkscan7
|
UTSW |
9 |
122,725,198 (GRCm39) |
unclassified |
probably benign |
|
|
R6266:Zkscan7
|
UTSW |
9 |
122,724,299 (GRCm39) |
nonsense |
probably null |
|
|
R6299:Zkscan7
|
UTSW |
9 |
122,717,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Zkscan7
|
UTSW |
9 |
122,725,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6881:Zkscan7
|
UTSW |
9 |
122,717,766 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7640:Zkscan7
|
UTSW |
9 |
122,725,121 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7920:Zkscan7
|
UTSW |
9 |
122,724,974 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCATTGTTCCTCTGTG -3'
(R):5'- TTCTCCCTGATGCTCAACAG -3'
Sequencing Primer
(F):5'- CCTCTGTGTTTTAATATCCCTGAAG -3'
(R):5'- CTGATGCTCAACAGGACTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation