Incidental Mutation 'IGL03244:Zfp750'
ID |
414340 |
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 # |
IGL03244
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 121404513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 121
(G121*)
|
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: G121*
|
SMART Domains |
Protein: ENSMUSP00000089951 Gene: ENSMUSG00000039238 AA Change: G121*
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
Asah2 |
T |
C |
19: 31,964,342 (GRCm39) |
Y696C |
probably damaging |
Het |
Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
Cers4 |
T |
A |
8: 4,566,878 (GRCm39) |
V60E |
probably damaging |
Het |
Ces2e |
T |
C |
8: 105,655,451 (GRCm39) |
Y125H |
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
Elf2 |
A |
T |
3: 51,165,193 (GRCm39) |
Y270* |
probably null |
Het |
Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
Rufy2 |
A |
G |
10: 62,840,483 (GRCm39) |
E418G |
probably benign |
Het |
Samm50 |
T |
C |
15: 84,098,341 (GRCm39) |
V460A |
probably benign |
Het |
Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
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 |
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 |
2016-08-02 |