Incidental Mutation 'R0841:Zfp7'
ID |
77183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp7
|
Ensembl Gene |
ENSMUSG00000033669 |
Gene Name |
zinc finger protein 7 |
Synonyms |
Zfp86-rs1, Zfp-7, Zfp65, Krox-2, KRAB20, Zfp80, mszf73-2, KRAB7 |
MMRRC Submission |
039020-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0841 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76763459-76776595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76775704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 582
(C582Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023179]
[ENSMUST00000229831]
[ENSMUST00000229990]
[ENSMUST00000230106]
[ENSMUST00000230214]
|
AlphaFold |
Q3TFZ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023179
AA Change: C582Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023179 Gene: ENSMUSG00000033669 AA Change: C582Y
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
65 |
3.07e-33 |
SMART |
ZnF_C2H2
|
192 |
214 |
6.88e-4 |
SMART |
ZnF_C2H2
|
220 |
242 |
4.24e-4 |
SMART |
ZnF_C2H2
|
248 |
270 |
2.09e-3 |
SMART |
ZnF_C2H2
|
276 |
298 |
1.45e-2 |
SMART |
ZnF_C2H2
|
304 |
326 |
1.13e-4 |
SMART |
ZnF_C2H2
|
332 |
354 |
9.08e-4 |
SMART |
ZnF_C2H2
|
360 |
383 |
2.24e-3 |
SMART |
ZnF_C2H2
|
412 |
434 |
9.08e-4 |
SMART |
ZnF_C2H2
|
440 |
462 |
1.67e-2 |
SMART |
ZnF_C2H2
|
468 |
490 |
3.44e-4 |
SMART |
ZnF_C2H2
|
496 |
518 |
8.47e-4 |
SMART |
ZnF_C2H2
|
524 |
546 |
4.54e-4 |
SMART |
ZnF_C2H2
|
552 |
574 |
7.9e-4 |
SMART |
ZnF_C2H2
|
580 |
602 |
1.72e-4 |
SMART |
ZnF_C2H2
|
633 |
655 |
1.98e-4 |
SMART |
ZnF_C2H2
|
661 |
683 |
4.79e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229782
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229831
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229990
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230106
AA Change: C582Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230214
|
Meta Mutation Damage Score |
0.3052 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.1%
|
Validation Efficiency |
94% (45/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
T |
A |
4: 73,860,986 (GRCm39) |
M205L |
probably benign |
Het |
Aass |
A |
T |
6: 23,075,810 (GRCm39) |
C776S |
probably benign |
Het |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
Arhgap9 |
T |
A |
10: 127,165,508 (GRCm39) |
M639K |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,915,049 (GRCm39) |
M635I |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,050,147 (GRCm39) |
K4003T |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fgfr2 |
G |
A |
7: 129,863,635 (GRCm39) |
P4S |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 130,373,737 (GRCm39) |
|
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm9726 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
C |
A |
10: 56,621,424 (GRCm39) |
L29M |
unknown |
Het |
Gm9956 |
T |
A |
10: 56,621,425 (GRCm39) |
L29Q |
unknown |
Het |
Hddc3 |
T |
A |
7: 79,995,401 (GRCm39) |
S139T |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Kcnq1 |
A |
G |
7: 142,661,189 (GRCm39) |
K32E |
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,752,032 (GRCm39) |
V4590A |
probably benign |
Het |
Nip7 |
C |
A |
8: 107,784,007 (GRCm39) |
H82Q |
probably benign |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Or52l1 |
A |
T |
7: 104,830,061 (GRCm39) |
V168E |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,309,186 (GRCm39) |
V1131A |
probably damaging |
Het |
Prl7a1 |
T |
A |
13: 27,826,393 (GRCm39) |
|
probably benign |
Het |
Sipa1 |
C |
A |
19: 5,704,835 (GRCm39) |
A587S |
probably benign |
Het |
Slc17a6 |
A |
T |
7: 51,275,063 (GRCm39) |
I41F |
probably benign |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,742,524 (GRCm39) |
L3230Q |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,780 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
C |
12: 76,121,209 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Trp53rkb |
T |
C |
2: 166,637,430 (GRCm39) |
C129R |
probably benign |
Het |
Ugt2a2 |
T |
C |
5: 87,622,648 (GRCm39) |
T317A |
probably benign |
Het |
Ugt3a1 |
G |
A |
15: 9,306,214 (GRCm39) |
S121N |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,267,749 (GRCm39) |
T68A |
possibly damaging |
Het |
|
Other mutations in Zfp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00576:Zfp7
|
APN |
15 |
76,775,101 (GRCm39) |
intron |
probably benign |
|
IGL01509:Zfp7
|
APN |
15 |
76,765,333 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01694:Zfp7
|
APN |
15 |
76,774,995 (GRCm39) |
nonsense |
probably null |
|
IGL01731:Zfp7
|
APN |
15 |
76,772,505 (GRCm39) |
nonsense |
probably null |
|
IGL02025:Zfp7
|
APN |
15 |
76,772,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1345:Zfp7
|
UTSW |
15 |
76,774,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R1625:Zfp7
|
UTSW |
15 |
76,765,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Zfp7
|
UTSW |
15 |
76,775,977 (GRCm39) |
missense |
probably benign |
0.00 |
R2330:Zfp7
|
UTSW |
15 |
76,775,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R4170:Zfp7
|
UTSW |
15 |
76,775,818 (GRCm39) |
missense |
probably benign |
0.00 |
R4795:Zfp7
|
UTSW |
15 |
76,775,546 (GRCm39) |
nonsense |
probably null |
|
R4796:Zfp7
|
UTSW |
15 |
76,775,546 (GRCm39) |
nonsense |
probably null |
|
R5038:Zfp7
|
UTSW |
15 |
76,776,010 (GRCm39) |
missense |
probably benign |
0.01 |
R5277:Zfp7
|
UTSW |
15 |
76,765,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R5285:Zfp7
|
UTSW |
15 |
76,775,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Zfp7
|
UTSW |
15 |
76,775,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R5445:Zfp7
|
UTSW |
15 |
76,775,054 (GRCm39) |
nonsense |
probably null |
|
R5655:Zfp7
|
UTSW |
15 |
76,775,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R6320:Zfp7
|
UTSW |
15 |
76,774,810 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7063:Zfp7
|
UTSW |
15 |
76,775,919 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8110:Zfp7
|
UTSW |
15 |
76,775,131 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9058:Zfp7
|
UTSW |
15 |
76,764,981 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
R9205:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9206:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9352:Zfp7
|
UTSW |
15 |
76,775,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9368:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9369:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9372:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9373:Zfp7
|
UTSW |
15 |
76,774,800 (GRCm39) |
intron |
probably benign |
|
R9373:Zfp7
|
UTSW |
15 |
76,774,798 (GRCm39) |
intron |
probably benign |
|
R9513:Zfp7
|
UTSW |
15 |
76,775,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Zfp7
|
UTSW |
15 |
76,775,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9516:Zfp7
|
UTSW |
15 |
76,775,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9623:Zfp7
|
UTSW |
15 |
76,774,531 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCAAGCCTTATTGCCTGTC -3'
(R):5'- TCGCAGTCGTCACACTGGTACAAC -3'
Sequencing Primer
(F):5'- aatgtgacgaatgtggcaag -3'
(R):5'- GTCACACTGGTACAACTTTTTTACAG -3'
|
Posted On |
2013-10-16 |