Incidental Mutation 'R1345:Zfp7'
ID |
156477 |
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 |
039410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1345 (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 76774908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 317
(S317P)
|
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: S317P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023179 Gene: ENSMUSG00000033669 AA Change: S317P
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: S317P
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
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'- GGAGAGAACCGTTACCCATGTGAAG -3'
(R):5'- TAGAGTTGCTCTCTGGCAGAAGGC -3'
Sequencing Primer
(F):5'- atgtgaccagtgtgggaag -3'
(R):5'- GGCCTTGCCACACTCCTG -3'
|
Posted On |
2014-02-11 |