Incidental Mutation 'R5277:Zfp7'
| ID |
404020 |
| 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 |
042864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76763459-76776595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76765403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023179]
[ENSMUST00000229831]
[ENSMUST00000229990]
[ENSMUST00000230106]
[ENSMUST00000230214]
|
| AlphaFold |
Q3TFZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023179
AA Change: V32A
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023179
Gene: ENSMUSG00000033669
AA Change: V32A
| 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 damaging
Transcript: ENSMUST00000229831
AA Change: V32A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229990
AA Change: V32A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230106
AA Change: V32A
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230214
AA Change: V32A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230954
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,844,128 (GRCm39) |
|
probably null |
Het |
| Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,533,164 (GRCm39) |
V477I |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
| Fam13b |
G |
A |
18: 34,595,243 (GRCm39) |
R374C |
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
| Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
| Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
| Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
| Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
| Ric8b |
G |
A |
10: 84,783,516 (GRCm39) |
V125M |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
| Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
| Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
| Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,006,465 (GRCm39) |
W362* |
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably 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 |
|
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 |
|
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'- AGAGCCAAAAGGATCCAGTC -3'
(R):5'- TGATGTGTGTAAAGCCTGGAGC -3'
Sequencing Primer
(F):5'- AGTCCTGCTGGAGGTATACCATAC -3'
(R):5'- GATTCAAGGTTTAGCCCCCAAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation