Incidental Mutation 'R1444:Zfp750'
| ID |
158726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp750
|
| Ensembl Gene |
ENSMUSG00000039238 |
| Gene Name |
zinc finger protein 750 |
| Synonyms |
A030007D23Rik |
| MMRRC Submission |
039499-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R1444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
121401804-121410159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121402873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 625
(S625N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092298]
[ENSMUST00000103013]
|
| AlphaFold |
Q8BH05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092298
AA Change: S625N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: S625N
| 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 |
|
| Meta Mutation Damage Score |
0.1365 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,230 (GRCm39) |
D347V |
probably damaging |
Het |
| A630010A05Rik |
T |
A |
16: 14,427,558 (GRCm39) |
F82I |
possibly damaging |
Het |
| Acad9 |
T |
A |
3: 36,132,657 (GRCm39) |
F297L |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,660,200 (GRCm39) |
Y323F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,915 (GRCm39) |
M1893K |
probably benign |
Het |
| Cactin |
A |
T |
10: 81,158,270 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
G |
7: 24,203,046 (GRCm39) |
*389W |
probably null |
Het |
| Calr4 |
A |
G |
4: 109,103,438 (GRCm39) |
T183A |
possibly damaging |
Het |
| Card10 |
A |
T |
15: 78,672,041 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,091,924 (GRCm39) |
G14C |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cr1l |
A |
T |
1: 194,813,510 (GRCm39) |
L35Q |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,787,779 (GRCm39) |
R445G |
possibly damaging |
Het |
| Ddn |
G |
A |
15: 98,704,485 (GRCm39) |
T269M |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,733,382 (GRCm39) |
S176L |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,769 (GRCm39) |
D167G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,293,759 (GRCm39) |
R711C |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,620 (GRCm39) |
H549Q |
unknown |
Het |
| Gje1 |
A |
G |
10: 14,592,380 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
A |
17: 79,060,622 (GRCm39) |
H2018Y |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,062,856 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,853,593 (GRCm39) |
R189L |
probably benign |
Het |
| Hsd3b6 |
T |
C |
3: 98,715,237 (GRCm39) |
T52A |
probably benign |
Het |
| Il10rb |
T |
G |
16: 91,218,675 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
C |
10: 112,291,506 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,783,928 (GRCm39) |
F419L |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,567,264 (GRCm39) |
C422R |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,923,117 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,294,632 (GRCm39) |
I280F |
probably damaging |
Het |
| Obox2 |
A |
C |
7: 15,130,957 (GRCm39) |
Q63P |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,585 (GRCm39) |
I46L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,577,616 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,386 (GRCm39) |
F1735S |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,623,461 (GRCm39) |
L238I |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,712 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,226 (GRCm39) |
S2812P |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,060,991 (GRCm39) |
D1053G |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,697,882 (GRCm39) |
N120S |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,158 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,360,086 (GRCm39) |
D27E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,115,754 (GRCm39) |
T980A |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,393,259 (GRCm39) |
E46G |
probably benign |
Het |
| Tmem183a |
T |
C |
1: 134,289,284 (GRCm39) |
I49V |
probably benign |
Het |
| Tmem212 |
C |
T |
3: 27,939,244 (GRCm39) |
V81I |
possibly damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,254 (GRCm39) |
I49N |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,549,932 (GRCm39) |
T521A |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,219 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,229,380 (GRCm39) |
|
noncoding transcript |
Het |
| Xrn2 |
C |
T |
2: 146,903,408 (GRCm39) |
R803W |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,251,784 (GRCm39) |
C9S |
probably damaging |
Het |
| Zfp871 |
G |
T |
17: 32,993,900 (GRCm39) |
T406N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGTAGTGTGAAAAGCCTCTCTC -3'
(R):5'- TGAAGGATCTCTGCAACGCCTG -3'
Sequencing Primer
(F):5'- GTGAAAAGCCTCTCTCTAGCCATAG -3'
(R):5'- AAGGTGCAGAACCCGCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation