Incidental Mutation 'R8528:Zfp442'
| ID |
658888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp442
|
| Ensembl Gene |
ENSMUSG00000068130 |
| Gene Name |
zinc finger protein 442 |
| Synonyms |
OTTMUSG00000015730 |
| MMRRC Submission |
068498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8528 (G1)
|
| Quality Score |
131.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150249061-150293406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 150250962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 312
(H312Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109916]
[ENSMUST00000185796]
|
| AlphaFold |
A2AQA0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109916
AA Change: H313Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: H313Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
3.27e-19 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
547 |
569 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
575 |
597 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
603 |
625 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
631 |
654 |
3.11e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185796
AA Change: H312Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: H312Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
1.4e-21 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
3.4e-5 |
SMART |
|
ZnF_C2H2
|
210 |
232 |
3.9e-5 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
1e-6 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
5.6e-6 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
1.3e-5 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
6.7e-6 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
9.6e-5 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
6.9e-7 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
7.7e-6 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.9e-5 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
1.5e-5 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
2e-5 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
3.5e-6 |
SMART |
|
ZnF_C2H2
|
574 |
597 |
1.3e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,447,700 (GRCm39) |
I169L |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,092 (GRCm39) |
K2125N |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,078,138 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
T |
C |
5: 93,417,164 (GRCm39) |
V60A |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,945,096 (GRCm39) |
V1442A |
possibly damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,993 (GRCm39) |
E387D |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,261,918 (GRCm39) |
S2729P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,972,538 (GRCm39) |
F2882S |
probably damaging |
Het |
| Dpy30 |
T |
C |
17: 74,606,757 (GRCm39) |
D97G |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,078 (GRCm39) |
V454E |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,614,757 (GRCm39) |
C240* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,686 (GRCm39) |
D297G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,456,855 (GRCm39) |
Y1611C |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,813,652 (GRCm39) |
K191E |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,285,034 (GRCm39) |
V1285A |
probably benign |
Het |
| Gfpt1 |
G |
C |
6: 87,043,770 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
T |
C |
5: 110,090,896 (GRCm39) |
Y383H |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,189 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,364,913 (GRCm39) |
I238T |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,300,387 (GRCm39) |
D79E |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,557 (GRCm39) |
Y124H |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,352 (GRCm39) |
M254K |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,451,821 (GRCm39) |
N1489S |
probably damaging |
Het |
| Mapk8ip2 |
A |
G |
15: 89,339,422 (GRCm39) |
D34G |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,767,423 (GRCm39) |
T876A |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,439 (GRCm39) |
T568I |
probably benign |
Het |
| Pcdhga2 |
G |
T |
18: 37,802,221 (GRCm39) |
A22S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,811 (GRCm39) |
T755I |
probably benign |
Het |
| Sertad4 |
A |
G |
1: 192,533,391 (GRCm39) |
V15A |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,286,223 (GRCm39) |
K520E |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,127,140 (GRCm39) |
V831A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Sprn |
C |
T |
7: 139,733,423 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,080,289 (GRCm39) |
|
probably benign |
Het |
| Stk24 |
C |
A |
14: 121,529,447 (GRCm39) |
A402S |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,326 (GRCm39) |
L712P |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,668 (GRCm39) |
G269S |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,545 (GRCm39) |
E308G |
possibly damaging |
Het |
|
| Other mutations in Zfp442 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Zfp442
|
APN |
2 |
150,251,267 (GRCm39) |
nonsense |
probably null |
|
|
IGL02566:Zfp442
|
APN |
2 |
150,251,711 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03217:Zfp442
|
APN |
2 |
150,251,714 (GRCm39) |
splice site |
probably benign |
|
|
LCD18:Zfp442
|
UTSW |
2 |
150,261,768 (GRCm39) |
intron |
probably benign |
|
|
PIT4812001:Zfp442
|
UTSW |
2 |
150,251,661 (GRCm39) |
nonsense |
probably null |
|
|
R0219:Zfp442
|
UTSW |
2 |
150,253,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0521:Zfp442
|
UTSW |
2 |
150,253,169 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1633:Zfp442
|
UTSW |
2 |
150,250,260 (GRCm39) |
nonsense |
probably null |
|
|
R1702:Zfp442
|
UTSW |
2 |
150,251,100 (GRCm39) |
nonsense |
probably null |
|
|
R1829:Zfp442
|
UTSW |
2 |
150,250,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1868:Zfp442
|
UTSW |
2 |
150,250,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Zfp442
|
UTSW |
2 |
150,250,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Zfp442
|
UTSW |
2 |
150,250,042 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4676:Zfp442
|
UTSW |
2 |
150,251,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Zfp442
|
UTSW |
2 |
150,250,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Zfp442
|
UTSW |
2 |
150,253,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4932:Zfp442
|
UTSW |
2 |
150,251,635 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4963:Zfp442
|
UTSW |
2 |
150,250,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Zfp442
|
UTSW |
2 |
150,251,530 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5476:Zfp442
|
UTSW |
2 |
150,250,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Zfp442
|
UTSW |
2 |
150,249,944 (GRCm39) |
nonsense |
probably null |
|
|
R6042:Zfp442
|
UTSW |
2 |
150,250,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6383:Zfp442
|
UTSW |
2 |
150,293,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6452:Zfp442
|
UTSW |
2 |
150,250,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Zfp442
|
UTSW |
2 |
150,251,499 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6931:Zfp442
|
UTSW |
2 |
150,252,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7061:Zfp442
|
UTSW |
2 |
150,249,937 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7184:Zfp442
|
UTSW |
2 |
150,250,056 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7214:Zfp442
|
UTSW |
2 |
150,251,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7225:Zfp442
|
UTSW |
2 |
150,250,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7513:Zfp442
|
UTSW |
2 |
150,250,676 (GRCm39) |
missense |
unknown |
|
|
R7591:Zfp442
|
UTSW |
2 |
150,250,092 (GRCm39) |
nonsense |
probably null |
|
|
R7679:Zfp442
|
UTSW |
2 |
150,252,917 (GRCm39) |
nonsense |
probably null |
|
|
R7768:Zfp442
|
UTSW |
2 |
150,250,241 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7801:Zfp442
|
UTSW |
2 |
150,251,639 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7814:Zfp442
|
UTSW |
2 |
150,251,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7848:Zfp442
|
UTSW |
2 |
150,253,146 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8158:Zfp442
|
UTSW |
2 |
150,251,096 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8192:Zfp442
|
UTSW |
2 |
150,250,629 (GRCm39) |
missense |
unknown |
|
|
R9110:Zfp442
|
UTSW |
2 |
150,250,093 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9269:Zfp442
|
UTSW |
2 |
150,251,287 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9371:Zfp442
|
UTSW |
2 |
150,250,676 (GRCm39) |
missense |
unknown |
|
|
R9401:Zfp442
|
UTSW |
2 |
150,251,615 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9459:Zfp442
|
UTSW |
2 |
150,250,668 (GRCm39) |
missense |
unknown |
|
|
R9711:Zfp442
|
UTSW |
2 |
150,250,207 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Zfp442
|
UTSW |
2 |
150,250,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATCACACTGGTCACATCCAA -3'
(R):5'- CCAATGTGGTAAAGCCTTTTCACA -3'
Sequencing Primer
(F):5'- ACTGGTCACATCCAAAGGGTTTC -3'
(R):5'- GTGGTAAAGCCTTTTCACAAAACAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation