Incidental Mutation 'R3817:Zfp672'
| ID |
274754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp672
|
| Ensembl Gene |
ENSMUSG00000049755 |
| Gene Name |
zinc finger protein 672 |
| Synonyms |
4930511N19Rik, 4930488P06Rik |
| MMRRC Submission |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58205940-58221165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58207462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 286
(H286Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000153510]
[ENSMUST00000186859]
[ENSMUST00000155662]
|
| 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: H286Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: H286Q
| 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: H286Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: H286Q
| 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: H286Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: H286Q
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| B3galt2 |
G |
T |
1: 143,522,811 (GRCm39) |
G316C |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,967,366 (GRCm39) |
N14T |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,122 (GRCm39) |
V422A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GTTGCGCAAATGTACATTGAGG -3'
(R):5'- TTTCAAGTGCCCTGAGTGTG -3'
Sequencing Primer
(F):5'- AATGCAGGTGAATCGCTTGCC -3'
(R):5'- AGTGCCCTGAGTGTGGCAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation