Incidental Mutation 'R5287:Zfp7'
| ID |
424432 |
| 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 |
042871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5287 (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 76775422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 488
(R488Q)
|
| 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: R488Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023179
Gene: ENSMUSG00000033669
AA Change: R488Q
| 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: R488Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230954
|
| Meta Mutation Damage Score |
0.2913 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
C |
2: 93,666,298 (GRCm39) |
D463G |
probably damaging |
Het |
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Arpin |
T |
C |
7: 79,577,997 (GRCm39) |
E144G |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,546,893 (GRCm39) |
N559S |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,060,434 (GRCm39) |
V438A |
probably benign |
Het |
| Cat |
T |
C |
2: 103,304,705 (GRCm39) |
T107A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,263 (GRCm39) |
Y1080C |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,411,527 (GRCm39) |
F632I |
possibly damaging |
Het |
| Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,528,244 (GRCm39) |
|
probably benign |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Dnm1l |
A |
C |
16: 16,151,732 (GRCm39) |
V240G |
probably damaging |
Het |
| Fezf1 |
C |
T |
6: 23,248,010 (GRCm39) |
V22M |
probably benign |
Het |
| Gm6818 |
T |
G |
7: 38,099,911 (GRCm39) |
|
noncoding transcript |
Het |
| Hand2 |
C |
T |
8: 57,775,080 (GRCm39) |
L47F |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Itga7 |
C |
A |
10: 128,779,027 (GRCm39) |
R351S |
probably benign |
Het |
| Mmp8 |
G |
T |
9: 7,567,507 (GRCm39) |
A456S |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,918,753 (GRCm39) |
F943S |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,028,825 (GRCm39) |
Y1668F |
probably damaging |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Phkg2 |
GCTGCCGGACGAGTGGCCT |
GCT |
7: 127,181,929 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Ptprn2 |
A |
T |
12: 117,175,482 (GRCm39) |
M721L |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,367,860 (GRCm39) |
E624G |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,073,607 (GRCm39) |
V1335A |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
C |
2: 128,434,560 (GRCm39) |
S46P |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,871 (GRCm39) |
R99G |
probably benign |
Het |
| T2 |
A |
T |
17: 8,636,835 (GRCm39) |
M57L |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,625,744 (GRCm39) |
S1402L |
probably benign |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tk1 |
A |
T |
11: 117,707,367 (GRCm39) |
V140E |
probably damaging |
Het |
| Tln2 |
G |
A |
9: 67,149,641 (GRCm39) |
T1192M |
probably damaging |
Het |
| Tmed8 |
C |
A |
12: 87,220,957 (GRCm39) |
A210S |
probably damaging |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,562,436 (GRCm39) |
S28803Y |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,080,441 (GRCm39) |
|
probably benign |
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 |
|
R0841:Zfp7
|
UTSW |
15 |
76,775,704 (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 |
|
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'- AAGCTTTCAGGTGGCTCTCTC -3'
(R):5'- CAATAAGGTATGAGCTCCGGC -3'
Sequencing Primer
(F):5'- CTGAATCAGCACCAGGTGG -3'
(R):5'- ACACTCGTTACACGTATAAGGTCTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation