Incidental Mutation 'R5157:Zfp672'
ID |
396790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp672
|
Ensembl Gene |
ENSMUSG00000049755 |
Gene Name |
zinc finger protein 672 |
Synonyms |
4930511N19Rik, 4930488P06Rik |
MMRRC Submission |
042739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R5157 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58205940-58221165 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58207677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 215
(S215P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000155662]
[ENSMUST00000153510]
[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: S215P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000060088 Gene: ENSMUSG00000049755 AA Change: S215P
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: S215P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070567 Gene: ENSMUSG00000049755 AA Change: S215P
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: S215P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104457 Gene: ENSMUSG00000049755 AA Change: S215P
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: 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: 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: 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 |
0.4743 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,096 (GRCm39) |
R1266C |
probably damaging |
Het |
Adap2 |
T |
C |
11: 80,047,772 (GRCm39) |
F76S |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,274,710 (GRCm39) |
H747L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,109,222 (GRCm39) |
V670D |
probably damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,615 (GRCm39) |
D839G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,635,817 (GRCm39) |
|
probably null |
Het |
AY074887 |
T |
C |
9: 54,858,102 (GRCm39) |
|
probably benign |
Het |
Bicd1 |
C |
G |
6: 149,421,912 (GRCm39) |
Q878E |
probably benign |
Het |
Catspere1 |
A |
T |
1: 177,707,348 (GRCm39) |
|
noncoding transcript |
Het |
Cnmd |
T |
C |
14: 79,894,126 (GRCm39) |
Q87R |
probably benign |
Het |
Col24a1 |
G |
T |
3: 145,051,712 (GRCm39) |
G661* |
probably null |
Het |
Crtap |
G |
A |
9: 114,213,860 (GRCm39) |
L232F |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,675,190 (GRCm39) |
Q388R |
probably benign |
Het |
Ddb1 |
A |
T |
19: 10,599,728 (GRCm39) |
T646S |
probably benign |
Het |
Dnah6 |
G |
T |
6: 73,172,617 (GRCm39) |
S280R |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,325,332 (GRCm39) |
H545R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,261 (GRCm39) |
M207L |
probably benign |
Het |
Elmo2 |
T |
A |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,350,537 (GRCm39) |
A731T |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,755,378 (GRCm39) |
T426A |
possibly damaging |
Het |
Kcnf1 |
T |
C |
12: 17,224,742 (GRCm39) |
E493G |
probably benign |
Het |
Lmna |
A |
T |
3: 88,391,414 (GRCm39) |
D364E |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
Map3k20 |
A |
T |
2: 72,268,558 (GRCm39) |
T522S |
probably benign |
Het |
Mroh9 |
C |
A |
1: 162,871,690 (GRCm39) |
A598S |
probably damaging |
Het |
Msln |
T |
C |
17: 25,971,957 (GRCm39) |
M87V |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,440 (GRCm39) |
K259E |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,549 (GRCm39) |
N5S |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,892 (GRCm39) |
Q17L |
probably benign |
Het |
Or5d16 |
T |
A |
2: 87,773,232 (GRCm39) |
M247L |
probably benign |
Het |
Pals1 |
T |
A |
12: 78,867,589 (GRCm39) |
M324K |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,322 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,053,197 (GRCm39) |
|
probably benign |
Het |
Ptprm |
T |
A |
17: 67,264,092 (GRCm39) |
K385I |
probably benign |
Het |
Rfxap |
T |
A |
3: 54,711,938 (GRCm39) |
N215I |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,069,333 (GRCm39) |
Y114* |
probably null |
Het |
Smarcb1 |
G |
T |
10: 75,747,628 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,877 (GRCm39) |
R770* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,528,342 (GRCm39) |
Y1533F |
probably benign |
Het |
Tbcd |
A |
T |
11: 121,500,853 (GRCm39) |
Y1142F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,893 (GRCm39) |
S2T |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Uba7 |
G |
A |
9: 107,857,246 (GRCm39) |
V703I |
probably benign |
Het |
Upb1 |
T |
C |
10: 75,248,638 (GRCm39) |
S53P |
possibly damaging |
Het |
Zfp978 |
T |
A |
4: 147,475,437 (GRCm39) |
L328H |
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 |
|
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 |
R6432:Zfp672
|
UTSW |
11 |
58,207,758 (GRCm39) |
missense |
possibly damaging |
0.53 |
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'- AAAGCCCTTGCCACAAGTG -3'
(R):5'- GAGATCATCACTGTCACCGC -3'
Sequencing Primer
(F):5'- TTCACCCTGATGGCTGCG -3'
(R):5'- ATCACTGTCACCGCCCCTTC -3'
|
Posted On |
2016-06-21 |