Incidental Mutation 'IGL02334:Zfp750'
ID |
288791 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp750
|
Ensembl Gene |
ENSMUSG00000039238 |
Gene Name |
zinc finger protein 750 |
Synonyms |
A030007D23Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.649)
|
Stock # |
IGL02334
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 121402837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 637
(T637K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089951
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092298]
[ENSMUST00000103013]
|
AlphaFold |
Q8BH05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092298
AA Change: T637K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000089951 Gene: ENSMUSG00000039238 AA Change: T637K
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
25 |
45 |
2.12e1 |
SMART |
low complexity region
|
352 |
362 |
N/A |
INTRINSIC |
low complexity region
|
689 |
702 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103013
|
SMART Domains |
Protein: ENSMUSP00000099302 Gene: ENSMUSG00000039230
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
SCOP:d1b3ua_
|
357 |
742 |
4e-20 |
SMART |
Pfam:TFCD_C
|
900 |
1090 |
1.4e-74 |
PFAM |
low complexity region
|
1113 |
1120 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125167
|
SMART Domains |
Protein: ENSMUSP00000124735 Gene: ENSMUSG00000039230
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
58 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd46 |
A |
G |
15: 36,486,079 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx16 |
A |
G |
17: 36,194,949 (GRCm39) |
E492G |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,747,294 (GRCm39) |
M1535T |
probably damaging |
Het |
Evpl |
G |
T |
11: 116,121,850 (GRCm39) |
S344* |
probably null |
Het |
F2 |
A |
T |
2: 91,463,439 (GRCm39) |
H148Q |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,373,345 (GRCm39) |
H237L |
probably benign |
Het |
Fscn3 |
A |
T |
6: 28,428,153 (GRCm39) |
|
probably null |
Het |
Gpr162 |
C |
A |
6: 124,838,123 (GRCm39) |
G176C |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,946,505 (GRCm39) |
D376G |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,440,402 (GRCm39) |
K295R |
probably benign |
Het |
Irf3 |
A |
G |
7: 44,648,134 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
T |
13: 115,001,845 (GRCm39) |
|
probably null |
Het |
Klhl11 |
A |
T |
11: 100,354,662 (GRCm39) |
D386E |
probably damaging |
Het |
Myh4 |
G |
T |
11: 67,136,373 (GRCm39) |
G417V |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,455,909 (GRCm39) |
T902A |
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,018 (GRCm39) |
I220V |
probably benign |
Het |
Or4a72 |
A |
C |
2: 89,405,668 (GRCm39) |
M134R |
possibly damaging |
Het |
Or9g3 |
A |
T |
2: 85,590,503 (GRCm39) |
Y72* |
probably null |
Het |
Phf10 |
T |
C |
17: 15,174,361 (GRCm39) |
Y239C |
probably damaging |
Het |
Pla2g4e |
A |
G |
2: 120,017,717 (GRCm39) |
F203S |
probably benign |
Het |
Pramel1 |
T |
C |
4: 143,124,096 (GRCm39) |
F257S |
probably damaging |
Het |
Prodh2 |
A |
G |
7: 30,205,803 (GRCm39) |
H213R |
probably damaging |
Het |
Rgs7 |
C |
T |
1: 175,016,788 (GRCm39) |
D61N |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,121,508 (GRCm39) |
|
probably benign |
Het |
Sct |
C |
A |
7: 140,858,530 (GRCm39) |
|
probably null |
Het |
Slc17a9 |
G |
A |
2: 180,382,536 (GRCm39) |
|
probably null |
Het |
Spire1 |
T |
C |
18: 67,639,725 (GRCm39) |
T263A |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,895,690 (GRCm39) |
|
probably null |
Het |
Trpm7 |
G |
T |
2: 126,649,282 (GRCm39) |
N1469K |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,843,841 (GRCm39) |
C960R |
probably damaging |
Het |
Zwint |
T |
A |
10: 72,490,815 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp750 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:Zfp750
|
APN |
11 |
121,403,922 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01450:Zfp750
|
APN |
11 |
121,403,855 (GRCm39) |
missense |
probably benign |
|
IGL01467:Zfp750
|
APN |
11 |
121,403,767 (GRCm39) |
nonsense |
probably null |
|
IGL01538:Zfp750
|
APN |
11 |
121,402,991 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01732:Zfp750
|
APN |
11 |
121,403,819 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01793:Zfp750
|
APN |
11 |
121,404,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02004:Zfp750
|
APN |
11 |
121,402,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02441:Zfp750
|
APN |
11 |
121,404,455 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03173:Zfp750
|
APN |
11 |
121,404,651 (GRCm39) |
nonsense |
probably null |
|
IGL03229:Zfp750
|
APN |
11 |
121,403,778 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03244:Zfp750
|
APN |
11 |
121,404,513 (GRCm39) |
nonsense |
probably null |
|
IGL03351:Zfp750
|
APN |
11 |
121,404,173 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03390:Zfp750
|
APN |
11 |
121,402,770 (GRCm39) |
nonsense |
probably null |
|
P0016:Zfp750
|
UTSW |
11 |
121,404,804 (GRCm39) |
nonsense |
probably null |
|
R0800:Zfp750
|
UTSW |
11 |
121,402,838 (GRCm39) |
missense |
probably benign |
|
R0900:Zfp750
|
UTSW |
11 |
121,403,807 (GRCm39) |
missense |
probably benign |
0.31 |
R1444:Zfp750
|
UTSW |
11 |
121,402,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Zfp750
|
UTSW |
11 |
121,402,819 (GRCm39) |
missense |
probably benign |
|
R1470:Zfp750
|
UTSW |
11 |
121,402,819 (GRCm39) |
missense |
probably benign |
|
R2008:Zfp750
|
UTSW |
11 |
121,403,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2009:Zfp750
|
UTSW |
11 |
121,403,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2134:Zfp750
|
UTSW |
11 |
121,404,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R2415:Zfp750
|
UTSW |
11 |
121,403,305 (GRCm39) |
missense |
probably benign |
0.01 |
R2912:Zfp750
|
UTSW |
11 |
121,403,153 (GRCm39) |
missense |
probably benign |
0.00 |
R3611:Zfp750
|
UTSW |
11 |
121,402,981 (GRCm39) |
missense |
probably benign |
0.03 |
R4648:Zfp750
|
UTSW |
11 |
121,402,706 (GRCm39) |
missense |
probably benign |
0.00 |
R5068:Zfp750
|
UTSW |
11 |
121,403,021 (GRCm39) |
missense |
probably benign |
0.02 |
R5487:Zfp750
|
UTSW |
11 |
121,404,558 (GRCm39) |
missense |
probably benign |
0.00 |
R7953:Zfp750
|
UTSW |
11 |
121,402,706 (GRCm39) |
missense |
probably benign |
0.00 |
R8013:Zfp750
|
UTSW |
11 |
121,403,843 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8014:Zfp750
|
UTSW |
11 |
121,403,843 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8043:Zfp750
|
UTSW |
11 |
121,402,706 (GRCm39) |
missense |
probably benign |
0.00 |
R8351:Zfp750
|
UTSW |
11 |
121,404,135 (GRCm39) |
missense |
probably benign |
0.01 |
R8451:Zfp750
|
UTSW |
11 |
121,404,135 (GRCm39) |
missense |
probably benign |
0.01 |
R8694:Zfp750
|
UTSW |
11 |
121,404,456 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9029:Zfp750
|
UTSW |
11 |
121,403,149 (GRCm39) |
missense |
probably benign |
0.08 |
R9128:Zfp750
|
UTSW |
11 |
121,404,674 (GRCm39) |
missense |
probably benign |
0.30 |
R9166:Zfp750
|
UTSW |
11 |
121,403,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R9429:Zfp750
|
UTSW |
11 |
121,404,693 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:Zfp750
|
UTSW |
11 |
121,404,104 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2015-04-16 |