Incidental Mutation 'R2330:Zfp7'
| ID |
245850 |
| 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 |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76763459-76776595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76775509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 517
(I517T)
|
| 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: I517T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023179
Gene: ENSMUSG00000033669
AA Change: I517T
| 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: I517T
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 |
0.1882 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
| Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
| Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
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 |
|
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'- AAGCTTTCAGGTGGCTCTCTC -3'
(R):5'- AATAAGGTATGAGCTCCGGC -3'
Sequencing Primer
(F):5'- TTCTGGAGAGAAACCTTACCAGTGC -3'
(R):5'- CACTCATAGGGCTTTACTCTAACATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation