Incidental Mutation 'R8401:Zfp672'
| ID |
652200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp672
|
| Ensembl Gene |
ENSMUSG00000049755 |
| Gene Name |
zinc finger protein 672 |
| Synonyms |
4930511N19Rik, 4930488P06Rik |
| MMRRC Submission |
067877-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R8401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58205940-58221165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58207628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 231
(K231R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060088
(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 |
probably benign
Transcript: ENSMUST00000057836
AA Change: K231R
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: K231R
| 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 |
probably benign
Transcript: ENSMUST00000064786
AA Change: K231R
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: K231R
| 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 |
probably benign
Transcript: ENSMUST00000108829
AA Change: K231R
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: K231R
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
T |
C |
14: 31,467,251 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,936,011 (GRCm39) |
D235G |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,574 (GRCm39) |
I463F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,475,817 (GRCm39) |
I2509N |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,184 (GRCm39) |
S544P |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,963,473 (GRCm39) |
Y824C |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,870,904 (GRCm39) |
V330A |
probably benign |
Het |
| Dct |
T |
C |
14: 118,280,615 (GRCm39) |
T134A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,214,199 (GRCm39) |
D350G |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,409,277 (GRCm39) |
L438F |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 117,915,485 (GRCm39) |
K4378M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,800,763 (GRCm39) |
S595F |
probably benign |
Het |
| Epb41 |
C |
T |
4: 131,702,018 (GRCm39) |
R539Q |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,191 (GRCm39) |
I389V |
probably damaging |
Het |
| Gan |
C |
A |
8: 117,910,242 (GRCm39) |
T57K |
possibly damaging |
Het |
| Glra3 |
T |
C |
8: 56,542,124 (GRCm39) |
V289A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,457,846 (GRCm39) |
F249L |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,599,981 (GRCm39) |
A258T |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,904,243 (GRCm39) |
N212S |
possibly damaging |
Het |
| Ikzf2 |
C |
A |
1: 69,578,254 (GRCm39) |
Q418H |
probably damaging |
Het |
| Ikzf2 |
T |
G |
1: 69,578,255 (GRCm39) |
Q418P |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,556,989 (GRCm39) |
N30K |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,840,580 (GRCm39) |
D606E |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,963,760 (GRCm39) |
K393R |
probably damaging |
Het |
| Lmbrd2 |
A |
T |
15: 9,156,294 (GRCm39) |
I124F |
possibly damaging |
Het |
| Loxhd1 |
C |
A |
18: 77,468,156 (GRCm39) |
P935T |
probably damaging |
Het |
| Nes |
T |
C |
3: 87,885,388 (GRCm39) |
S1216P |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,213 (GRCm39) |
L227P |
probably damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,579,841 (GRCm39) |
L366F |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,119,548 (GRCm39) |
R586L |
possibly damaging |
Het |
| Ogdh |
T |
A |
11: 6,247,174 (GRCm39) |
L66* |
probably null |
Het |
| Or2b28 |
A |
T |
13: 21,531,997 (GRCm39) |
I300L |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,274,467 (GRCm39) |
S11G |
possibly damaging |
Het |
| Pkn3 |
C |
A |
2: 29,970,071 (GRCm39) |
S126R |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,335,091 (GRCm39) |
D442E |
probably damaging |
Het |
| Pop1 |
A |
T |
15: 34,508,755 (GRCm39) |
T277S |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,068,868 (GRCm39) |
T563A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,591,477 (GRCm39) |
F2652I |
possibly damaging |
Het |
| Prok1 |
A |
G |
3: 107,144,513 (GRCm39) |
I30T |
probably benign |
Het |
| Prr9 |
T |
G |
3: 92,030,356 (GRCm39) |
T95P |
possibly damaging |
Het |
| Ptgds |
A |
G |
2: 25,359,669 (GRCm39) |
M6T |
unknown |
Het |
| Rnaseh2b |
T |
A |
14: 62,607,938 (GRCm39) |
D250E |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,324,383 (GRCm39) |
T363M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,821 (GRCm39) |
H3081L |
possibly damaging |
Het |
| Setmar |
T |
C |
6: 108,053,124 (GRCm39) |
I206T |
probably benign |
Het |
| Skic8 |
A |
T |
9: 54,635,539 (GRCm39) |
S21T |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,989,453 (GRCm39) |
S85P |
possibly damaging |
Het |
| Spi1 |
A |
G |
2: 90,943,650 (GRCm39) |
N65D |
probably benign |
Het |
| Stx1b |
A |
T |
7: 127,406,945 (GRCm39) |
|
probably benign |
Het |
| Trav5-4 |
G |
A |
14: 53,941,750 (GRCm39) |
S41N |
probably benign |
Het |
| Tspan14 |
T |
C |
14: 40,630,049 (GRCm39) |
D260G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,852,527 (GRCm39) |
D645G |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,275,062 (GRCm39) |
T1845I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,973 (GRCm39) |
L932P |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,108,218 (GRCm39) |
C770S |
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 |
|
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 |
|
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'- ACTAGATCATACCGCTGCCC -3'
(R):5'- AGCACGCTCTACCACTGTAC -3'
Sequencing Primer
(F):5'- AGCCCTTGCCACAAGTG -3'
(R):5'- TGTACACAGTGCCCACGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation