Incidental Mutation 'R6432:Zfp672'
| ID |
518597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp672
|
| Ensembl Gene |
ENSMUSG00000049755 |
| Gene Name |
zinc finger protein 672 |
| Synonyms |
4930511N19Rik, 4930488P06Rik |
| MMRRC Submission |
044570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6432 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58205940-58221165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58207758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 188
(I188F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000153510]
[ENSMUST00000155662]
[ENSMUST00000186859]
|
| AlphaFold |
Q99LH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049353
|
| SMART Domains |
Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057836
AA Change: I188F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: I188F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064786
AA Change: I188F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: I188F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108829
AA Change: I188F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: I188F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153510
|
| SMART Domains |
Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155662
|
| SMART Domains |
Protein: ENSMUSP00000114561
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186859
|
| SMART Domains |
Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
3.6e-2 |
SMART |
|
ZnF_C2H2
|
71 |
90 |
6.1e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.2414 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
T |
A |
3: 105,814,991 (GRCm39) |
L101* |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,639 (GRCm39) |
F574L |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
| Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,365,327 (GRCm39) |
S703P |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
| Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
| Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
| Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
| Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
| Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
| Six5 |
T |
A |
7: 18,830,696 (GRCm39) |
V441E |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
| Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
| Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
| Upf2 |
C |
A |
2: 5,984,588 (GRCm39) |
A501E |
unknown |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
| Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,723 (GRCm39) |
N199S |
probably damaging |
Het |
|
| Other mutations in Zfp672 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Zfp672
|
APN |
11 |
58,208,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Zfp672
|
UTSW |
11 |
58,207,173 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1485:Zfp672
|
UTSW |
11 |
58,220,395 (GRCm39) |
intron |
probably benign |
|
|
R1664:Zfp672
|
UTSW |
11 |
58,208,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Zfp672
|
UTSW |
11 |
58,206,921 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1853:Zfp672
|
UTSW |
11 |
58,207,790 (GRCm39) |
missense |
probably benign |
|
|
R2074:Zfp672
|
UTSW |
11 |
58,207,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3817:Zfp672
|
UTSW |
11 |
58,207,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4623:Zfp672
|
UTSW |
11 |
58,207,281 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4745:Zfp672
|
UTSW |
11 |
58,220,324 (GRCm39) |
intron |
probably benign |
|
|
R5157:Zfp672
|
UTSW |
11 |
58,207,677 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5240:Zfp672
|
UTSW |
11 |
58,220,527 (GRCm39) |
intron |
probably benign |
|
|
R5510:Zfp672
|
UTSW |
11 |
58,207,456 (GRCm39) |
nonsense |
probably null |
|
|
R6207:Zfp672
|
UTSW |
11 |
58,208,349 (GRCm39) |
start gained |
probably benign |
|
|
R6279:Zfp672
|
UTSW |
11 |
58,208,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6300:Zfp672
|
UTSW |
11 |
58,208,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6438:Zfp672
|
UTSW |
11 |
58,207,563 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7777:Zfp672
|
UTSW |
11 |
58,208,081 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8401:Zfp672
|
UTSW |
11 |
58,207,628 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8489:Zfp672
|
UTSW |
11 |
58,220,681 (GRCm39) |
intron |
probably benign |
|
|
R8826:Zfp672
|
UTSW |
11 |
58,220,590 (GRCm39) |
missense |
unknown |
|
|
R8858:Zfp672
|
UTSW |
11 |
58,208,145 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9298:Zfp672
|
UTSW |
11 |
58,220,590 (GRCm39) |
missense |
unknown |
|
|
RF012:Zfp672
|
UTSW |
11 |
58,206,938 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp672
|
UTSW |
11 |
58,220,786 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1187:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1188:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1189:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1190:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1191:Zfp672
|
UTSW |
11 |
58,220,786 (GRCm39) |
intron |
probably benign |
|
|
Z1191:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
Z1192:Zfp672
|
UTSW |
11 |
58,220,452 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGTGGCACTCTCCAAGAAG -3'
(R):5'- ATCTACACCTGGGAACGCAC -3'
Sequencing Primer
(F):5'- AGCCCTTGCCACACTCAGG -3'
(R):5'- ACCTGGGAACGCACCGAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation