Incidental Mutation 'R2912:Zfp750'
ID |
261316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp750
|
Ensembl Gene |
ENSMUSG00000039238 |
Gene Name |
zinc finger protein 750 |
Synonyms |
A030007D23Rik |
MMRRC Submission |
040499-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.649)
|
Stock # |
R2912 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 121403153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 532
(A532S)
|
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: A532S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000089951 Gene: ENSMUSG00000039238 AA Change: A532S
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aloxe3 |
A |
T |
11: 69,020,866 (GRCm39) |
K197M |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,524,517 (GRCm39) |
K182E |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,999,201 (GRCm39) |
D4643G |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,586,139 (GRCm39) |
D41G |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,817,398 (GRCm39) |
T372A |
possibly damaging |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,072,109 (GRCm39) |
E251G |
probably damaging |
Het |
Dnajc27 |
C |
T |
12: 4,146,280 (GRCm39) |
S103L |
probably damaging |
Het |
Dync1li1 |
T |
G |
9: 114,544,743 (GRCm39) |
N348K |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,092,571 (GRCm39) |
S504P |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,021,488 (GRCm39) |
D1321G |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,425 (GRCm39) |
N406S |
probably benign |
Het |
Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
Kcnq2 |
A |
G |
2: 180,723,567 (GRCm39) |
V603A |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,876,799 (GRCm39) |
S2716G |
probably benign |
Het |
Lax1 |
A |
G |
1: 133,611,791 (GRCm39) |
V48A |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,187,210 (GRCm39) |
L188P |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,189,743 (GRCm39) |
T372A |
probably benign |
Het |
Mrgprb5 |
T |
C |
7: 47,817,815 (GRCm39) |
S307G |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
Nherf2 |
C |
T |
17: 24,861,215 (GRCm39) |
G71S |
probably damaging |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
A |
G |
8: 32,308,595 (GRCm39) |
S474P |
probably damaging |
Het |
Nup210 |
T |
G |
6: 91,003,956 (GRCm39) |
D644A |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,898 (GRCm39) |
I47T |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
Or8g34 |
T |
C |
9: 39,373,512 (GRCm39) |
Y259H |
probably damaging |
Het |
Panx2 |
A |
G |
15: 88,954,024 (GRCm39) |
I660V |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
Prx |
C |
T |
7: 27,215,654 (GRCm39) |
P52S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,106,177 (GRCm39) |
S206P |
probably damaging |
Het |
Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,594,226 (GRCm39) |
D382G |
probably damaging |
Het |
Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,221,551 (GRCm39) |
S2763P |
probably damaging |
Het |
Vmn1r42 |
T |
C |
6: 89,821,688 (GRCm39) |
M294V |
probably benign |
Het |
Zfp467 |
C |
A |
6: 48,416,010 (GRCm39) |
R214L |
possibly damaging |
Het |
Zscan4d |
G |
A |
7: 10,896,614 (GRCm39) |
P252L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGACAGAGAGCTACAGC -3'
(R):5'- TGCTCAACACCAAGTTAGTTCAC -3'
Sequencing Primer
(F):5'- CTACAGCTGCCGTCTGC -3'
(R):5'- AGTTCACACTTGTTCCAAATGC -3'
|
Posted On |
2015-01-23 |