Incidental Mutation 'R3611:Zfp750'
ID |
269236 |
Institutional Source |
Beutler Lab
|
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 # |
R3611 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121402981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 589
(P589L)
|
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: P589L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000089951 Gene: ENSMUSG00000039238 AA Change: P589L
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
G |
A |
6: 92,846,965 (GRCm39) |
T521M |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,974,427 (GRCm39) |
K345R |
possibly damaging |
Het |
Arhgap26 |
T |
C |
18: 39,066,972 (GRCm39) |
W53R |
probably benign |
Het |
Brd1 |
A |
G |
15: 88,585,147 (GRCm39) |
S896P |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,252,973 (GRCm39) |
S281P |
possibly damaging |
Het |
Chl1 |
A |
G |
6: 103,675,116 (GRCm39) |
D601G |
probably damaging |
Het |
Cntn3 |
C |
A |
6: 102,185,038 (GRCm39) |
V693L |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dsc2 |
A |
G |
18: 20,165,408 (GRCm39) |
V855A |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,202,895 (GRCm39) |
M60V |
probably benign |
Het |
Fmnl1 |
A |
G |
11: 103,085,591 (GRCm39) |
|
probably benign |
Het |
Gnpda2 |
A |
G |
5: 69,734,752 (GRCm39) |
S268P |
probably benign |
Het |
Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,733,763 (GRCm39) |
|
probably benign |
Het |
Lsg1 |
A |
G |
16: 30,380,613 (GRCm39) |
V608A |
probably benign |
Het |
Macir |
T |
C |
1: 97,574,059 (GRCm39) |
E2G |
probably damaging |
Het |
Mmrn2 |
G |
A |
14: 34,120,632 (GRCm39) |
V501M |
probably benign |
Het |
Or13a17 |
G |
A |
7: 140,271,013 (GRCm39) |
C65Y |
probably benign |
Het |
Ppa2 |
A |
G |
3: 133,053,867 (GRCm39) |
T186A |
probably benign |
Het |
Rims4 |
T |
A |
2: 163,721,126 (GRCm39) |
I42F |
possibly damaging |
Het |
Rnf17 |
A |
T |
14: 56,705,197 (GRCm39) |
E700D |
probably benign |
Het |
Skor2 |
T |
C |
18: 76,946,533 (GRCm39) |
V85A |
unknown |
Het |
Srbd1 |
T |
C |
17: 86,410,355 (GRCm39) |
T526A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
Ubtfl1 |
T |
C |
9: 18,320,661 (GRCm39) |
I63T |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,974,268 (GRCm39) |
K270R |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,159,848 (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 |
IGL02334:Zfp750
|
APN |
11 |
121,402,837 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCAGGTTCTCTGTAGCACTG -3'
(R):5'- GTATGGACCCATGTATGCAAGC -3'
Sequencing Primer
(F):5'- ACTGAGGGTGGGCACATC -3'
(R):5'- TGTATGCAAGCAACGCCCAG -3'
|
Posted On |
2015-02-19 |