Incidental Mutation 'R6392:Zfp87'
| ID |
515824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp87
|
| Ensembl Gene |
ENSMUSG00000097333 |
| Gene Name |
zinc finger protein 87 |
| Synonyms |
Mzf22, 2210039O17Rik, 4631412O18Rik, Zfp72, KRAB4 |
| MMRRC Submission |
044541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67663900-67674296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67664986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 492
(R492K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167914]
[ENSMUST00000180536]
[ENSMUST00000181341]
[ENSMUST00000181573]
[ENSMUST00000181767]
|
| AlphaFold |
Q8K2A4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167914
|
| SMART Domains |
Protein: ENSMUSP00000137830
Gene: ENSMUSG00000097565
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
4.41e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180536
|
| SMART Domains |
Protein: ENSMUSP00000137812
Gene: ENSMUSG00000097333
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
51 |
7.02e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181341
|
| SMART Domains |
Protein: ENSMUSP00000137689
Gene: ENSMUSG00000097333
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
4.41e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181573
|
| SMART Domains |
Protein: ENSMUSP00000138011
Gene: ENSMUSG00000097333
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
51 |
7.02e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181767
AA Change: R492K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000138087
Gene: ENSMUSG00000097333
AA Change: R492K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
4.41e-34 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
4.47e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,825,526 (GRCm39) |
I330F |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
| Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
| Adra1d |
T |
C |
2: 131,403,529 (GRCm39) |
D187G |
probably damaging |
Het |
| AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
| Ccdc78 |
C |
G |
17: 26,007,148 (GRCm39) |
Q213E |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
| Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
| Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,094,630 (GRCm39) |
D387E |
probably damaging |
Het |
| Fbf1 |
T |
A |
11: 116,043,775 (GRCm39) |
|
probably null |
Het |
| Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
| Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
| Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
| Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,434,875 (GRCm39) |
K624E |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
| Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
| Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
| Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
| Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
| Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
|
| Other mutations in Zfp87 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02165:Zfp87
|
APN |
13 |
67,665,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02372:Zfp87
|
APN |
13 |
67,668,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL03160:Zfp87
|
APN |
13 |
67,669,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Zfp87
|
UTSW |
13 |
74,520,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Zfp87
|
UTSW |
13 |
74,524,544 (GRCm39) |
splice site |
probably benign |
|
|
R1498:Zfp87
|
UTSW |
13 |
74,520,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3801:Zfp87
|
UTSW |
13 |
67,669,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Zfp87
|
UTSW |
13 |
74,520,449 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4629:Zfp87
|
UTSW |
13 |
74,520,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Zfp87
|
UTSW |
13 |
67,666,018 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5604:Zfp87
|
UTSW |
13 |
67,665,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Zfp87
|
UTSW |
13 |
74,520,504 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6130:Zfp87
|
UTSW |
13 |
74,520,460 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6277:Zfp87
|
UTSW |
13 |
74,520,643 (GRCm39) |
nonsense |
probably null |
|
|
R6800:Zfp87
|
UTSW |
13 |
74,520,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6909:Zfp87
|
UTSW |
13 |
74,519,861 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7009:Zfp87
|
UTSW |
13 |
67,665,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Zfp87
|
UTSW |
13 |
67,665,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Zfp87
|
UTSW |
13 |
74,520,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7330:Zfp87
|
UTSW |
13 |
74,523,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7341:Zfp87
|
UTSW |
13 |
74,520,467 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7448:Zfp87
|
UTSW |
13 |
67,665,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7597:Zfp87
|
UTSW |
13 |
67,665,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8696:Zfp87
|
UTSW |
13 |
74,520,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Zfp87
|
UTSW |
13 |
74,520,803 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9429:Zfp87
|
UTSW |
13 |
74,520,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9780:Zfp87
|
UTSW |
13 |
67,665,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Zfp87
|
UTSW |
13 |
74,520,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF014:Zfp87
|
UTSW |
13 |
74,523,173 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Zfp87
|
UTSW |
13 |
67,674,275 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Zfp87
|
UTSW |
13 |
74,519,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTTGTATCTAACGAAGCCC -3'
(R):5'- GCATAGACTTGGTCACTCTGGAG -3'
Sequencing Primer
(F):5'- CGCCAATGTGAATTTCCTGATG -3'
(R):5'- CTTGGTCACTCTGGAGAGAAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation