Incidental Mutation 'R1276:Zkscan7'
| ID |
150896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan7
|
| Ensembl Gene |
ENSMUSG00000063488 |
| Gene Name |
zinc finger with KRAB and SCAN domains 7 |
| Synonyms |
Zfp167 |
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122715883-122727684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122719788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 158
(E158G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063980]
[ENSMUST00000215872]
|
| AlphaFold |
E9PVW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063980
AA Change: E158G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071695
Gene: ENSMUSG00000063488
AA Change: E158G
| 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 damaging
Transcript: ENSMUST00000215872
AA Change: E158G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably 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 |
|
|
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 |
|
R2354:Zkscan7
|
UTSW |
9 |
122,723,892 (GRCm39) |
missense |
probably benign |
|
|
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'- TGGGAACTAAGGTCCTCAGGCTAAG -3'
(R):5'- TCAGTGCAAGTTGGGCTGATGAAAG -3'
Sequencing Primer
(F):5'- TCTAGCTCCTACAAGGAGAGTCTG -3'
(R):5'- GGCTGATGAAAGAAAGTGACTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation