Incidental Mutation 'IGL01467:Zfp750'
| ID |
88125 |
| 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: 0.612)
|
| Stock # |
IGL01467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 121403767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 369
(C369*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092298]
[ENSMUST00000103013]
|
| AlphaFold |
Q8BH05 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092298
AA Change: C369*
|
| SMART Domains |
Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: C369*
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
| Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
| Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
| Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
| Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
| Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
| Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
| Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
| Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
| Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
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 |
|
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation