Incidental Mutation 'R2298:Zfp768'
| ID |
245225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp768
|
| Ensembl Gene |
ENSMUSG00000047371 |
| Gene Name |
zinc finger protein 768 |
| Synonyms |
|
| MMRRC Submission |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126941967-126944486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126943361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 256
(M256L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060783]
[ENSMUST00000205266]
|
| AlphaFold |
Q8R0T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060783
AA Change: M259L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000055374
Gene: ENSMUSG00000047371
AA Change: M259L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
80 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpb1_R
|
112 |
130 |
3.7e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
133 |
152 |
1.3e-4 |
PFAM |
|
low complexity region
|
271 |
288 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
289 |
311 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
513 |
535 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
541 |
563 |
6.52e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205266
AA Change: M256L
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
|
| Other mutations in Zfp768 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Zfp768
|
APN |
7 |
126,943,703 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03236:Zfp768
|
APN |
7 |
126,943,142 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1490:Zfp768
|
UTSW |
7 |
126,942,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Zfp768
|
UTSW |
7 |
126,942,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Zfp768
|
UTSW |
7 |
126,943,550 (GRCm39) |
missense |
probably benign |
|
|
R2360:Zfp768
|
UTSW |
7 |
126,943,810 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4751:Zfp768
|
UTSW |
7 |
126,943,934 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4795:Zfp768
|
UTSW |
7 |
126,942,547 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5011:Zfp768
|
UTSW |
7 |
126,942,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Zfp768
|
UTSW |
7 |
126,943,583 (GRCm39) |
missense |
probably benign |
|
|
R5602:Zfp768
|
UTSW |
7 |
126,943,804 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5876:Zfp768
|
UTSW |
7 |
126,943,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6245:Zfp768
|
UTSW |
7 |
126,943,263 (GRCm39) |
nonsense |
probably null |
|
|
R6273:Zfp768
|
UTSW |
7 |
126,944,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6376:Zfp768
|
UTSW |
7 |
126,943,892 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6475:Zfp768
|
UTSW |
7 |
126,943,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7125:Zfp768
|
UTSW |
7 |
126,943,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7905:Zfp768
|
UTSW |
7 |
126,943,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8781:Zfp768
|
UTSW |
7 |
126,942,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTGGGAAAAGGCCTTG -3'
(R):5'- CAAAGTTCCAAATTCCAGGAAGG -3'
Sequencing Primer
(F):5'- GCTGCAAACCTCACATTTGTAAGG -3'
(R):5'- TTCCAAATTCCAGGAAGGTGCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation