Incidental Mutation 'R6568:Zfp942'
| ID |
526175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp942
|
| Ensembl Gene |
ENSMUSG00000071267 |
| Gene Name |
zinc finger protein 942 |
| Synonyms |
3110048L19Rik |
| MMRRC Submission |
044692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6568 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22145941-22181445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 22148043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 195
(K195N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074295]
[ENSMUST00000091879]
|
| AlphaFold |
B8JJA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074295
AA Change: K195N
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073907
Gene: ENSMUSG00000071267
AA Change: K195N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
69 |
6.55e-19 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
2.99e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091879
AA Change: K195N
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000089494
Gene: ENSMUSG00000071267
AA Change: K195N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
69 |
6.55e-19 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
2.99e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
C |
1: 138,779,872 (GRCm39) |
K127E |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,959,344 (GRCm39) |
M2240I |
probably benign |
Het |
| Bhmt1b |
A |
T |
18: 87,775,566 (GRCm39) |
Y363F |
probably benign |
Het |
| Ccr5 |
G |
A |
9: 123,925,236 (GRCm39) |
A280T |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,479,416 (GRCm39) |
L178F |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,875,157 (GRCm39) |
N1259S |
unknown |
Het |
| Doc2b |
A |
C |
11: 75,667,820 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,216,859 (GRCm39) |
N2144D |
probably damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,017 (GRCm39) |
Y336C |
probably damaging |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,231 (GRCm39) |
W5R |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,434 (GRCm39) |
V497A |
probably benign |
Het |
| Miip |
T |
A |
4: 147,950,372 (GRCm39) |
M75L |
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,262 (GRCm39) |
S65P |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,168,923 (GRCm39) |
L34P |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,855 (GRCm39) |
S896P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,641 (GRCm39) |
C112S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,470,767 (GRCm39) |
M136K |
probably damaging |
Het |
| Rgsl1 |
A |
C |
1: 153,697,292 (GRCm39) |
W508G |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,038,908 (GRCm39) |
M354K |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,226,476 (GRCm39) |
L533P |
probably damaging |
Het |
| Taf2 |
G |
A |
15: 54,928,026 (GRCm39) |
L126F |
probably damaging |
Het |
| Tlr12 |
T |
C |
4: 128,511,785 (GRCm39) |
D155G |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
|
| Other mutations in Zfp942 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Zfp942
|
APN |
17 |
22,148,042 (GRCm39) |
missense |
probably benign |
|
|
IGL00586:Zfp942
|
APN |
17 |
22,147,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02973:Zfp942
|
APN |
17 |
22,151,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03212:Zfp942
|
APN |
17 |
22,148,445 (GRCm39) |
nonsense |
probably null |
|
|
IGL03382:Zfp942
|
APN |
17 |
22,148,083 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0008:Zfp942
|
UTSW |
17 |
22,147,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Zfp942
|
UTSW |
17 |
22,148,066 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0244:Zfp942
|
UTSW |
17 |
22,147,553 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0369:Zfp942
|
UTSW |
17 |
22,148,017 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1664:Zfp942
|
UTSW |
17 |
22,147,420 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1824:Zfp942
|
UTSW |
17 |
22,147,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4545:Zfp942
|
UTSW |
17 |
22,147,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Zfp942
|
UTSW |
17 |
22,148,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Zfp942
|
UTSW |
17 |
22,151,985 (GRCm39) |
missense |
probably null |
0.66 |
|
R6733:Zfp942
|
UTSW |
17 |
22,147,733 (GRCm39) |
nonsense |
probably null |
|
|
R7650:Zfp942
|
UTSW |
17 |
22,147,818 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7935:Zfp942
|
UTSW |
17 |
22,148,208 (GRCm39) |
nonsense |
probably null |
|
|
R8065:Zfp942
|
UTSW |
17 |
22,149,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8067:Zfp942
|
UTSW |
17 |
22,149,391 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8237:Zfp942
|
UTSW |
17 |
22,147,226 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8513:Zfp942
|
UTSW |
17 |
22,147,282 (GRCm39) |
missense |
probably benign |
|
|
R9468:Zfp942
|
UTSW |
17 |
22,148,422 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9539:Zfp942
|
UTSW |
17 |
22,148,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Zfp942
|
UTSW |
17 |
22,147,463 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0025:Zfp942
|
UTSW |
17 |
22,148,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAGGTTGCTTTTCCGGGTAAAAG -3'
(R):5'- ACACATGTTGAGTCATCAAACG -3'
Sequencing Primer
(F):5'- GCTTTTCCGGGTAAAAGATTTTTCAC -3'
(R):5'- GTTGAGTCATCAAACGTAAACAGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation