Incidental Mutation 'R5487:Zfp750'
| ID |
430427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp750
|
| Ensembl Gene |
ENSMUSG00000039238 |
| Gene Name |
zinc finger protein 750 |
| Synonyms |
A030007D23Rik |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121404558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 106
(S106P)
|
| 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: S106P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: S106P
| 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: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
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 |
|
|
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 |
|
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 |
|
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'- AGTCTGTGTTCCCCAACTGG -3'
(R):5'- GTCCTTTTACATGTAACGAGAAGTC -3'
Sequencing Primer
(F):5'- CTGGAACAAATGCTGAATGTCTAACC -3'
(R):5'- TCACATGAAGTACGGTCTCTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation