Incidental Mutation 'IGL00594:Zkscan7'
| ID |
6128 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zkscan7
|
| Ensembl Gene |
ENSMUSG00000063488 |
| Gene Name |
zinc finger with KRAB and SCAN domains 7 |
| Synonyms |
Zfp167 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122715883-122727684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122724659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 543
(Y543H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063980]
[ENSMUST00000215872]
|
| AlphaFold |
E9PVW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063980
AA Change: Y543H
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071695
Gene: ENSMUSG00000063488
AA Change: Y543H
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
|
| Other mutations in Zkscan7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation