Incidental Mutation 'R6806:Zfp747l1'
ID |
537488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp747l1
|
Ensembl Gene |
ENSMUSG00000030823 |
Gene Name |
zinc finger protein 747 like 1 |
Synonyms |
9130019O22Rik |
MMRRC Submission |
044919-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6806 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126981432-126986338 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 126985766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049052]
[ENSMUST00000074249]
[ENSMUST00000164345]
[ENSMUST00000165495]
|
AlphaFold |
G3X941 |
Predicted Effect |
unknown
Transcript: ENSMUST00000049052
AA Change: E75G
|
SMART Domains |
Protein: ENSMUSP00000038195 Gene: ENSMUSG00000030823 AA Change: E75G
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
82 |
5.44e-25 |
SMART |
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
ZnF_C2H2
|
152 |
174 |
6.88e-4 |
SMART |
ZnF_C2H2
|
180 |
202 |
1.47e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
5.29e-5 |
SMART |
ZnF_C2H2
|
236 |
258 |
4.87e-4 |
SMART |
ZnF_C2H2
|
264 |
286 |
3.69e-4 |
SMART |
ZnF_C2H2
|
292 |
314 |
1.47e-3 |
SMART |
ZnF_C2H2
|
320 |
342 |
5.21e-4 |
SMART |
ZnF_C2H2
|
348 |
370 |
1.45e-2 |
SMART |
ZnF_C2H2
|
376 |
398 |
2.12e-4 |
SMART |
ZnF_C2H2
|
404 |
427 |
1.45e-2 |
SMART |
ZnF_C2H2
|
433 |
455 |
3.69e-4 |
SMART |
ZnF_C2H2
|
461 |
483 |
6.67e-2 |
SMART |
ZnF_C2H2
|
489 |
511 |
1.67e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074249
|
SMART Domains |
Protein: ENSMUSP00000073867 Gene: ENSMUSG00000078580
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
79 |
4.43e-7 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000164345
|
SMART Domains |
Protein: ENSMUSP00000131610 Gene: ENSMUSG00000030823
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
67 |
1.65e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165495
|
SMART Domains |
Protein: ENSMUSP00000126288 Gene: ENSMUSG00000078580
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
82 |
4.09e-29 |
SMART |
ZnF_C2H2
|
168 |
190 |
2.2e-2 |
SMART |
ZnF_C2H2
|
196 |
218 |
4.79e-3 |
SMART |
ZnF_C2H2
|
224 |
246 |
4.3e-5 |
SMART |
ZnF_C2H2
|
252 |
274 |
7.9e-4 |
SMART |
ZnF_C2H2
|
280 |
302 |
9.58e-3 |
SMART |
ZnF_C2H2
|
308 |
331 |
2.36e-2 |
SMART |
ZnF_C2H2
|
337 |
359 |
2.57e-3 |
SMART |
ZnF_C2H2
|
365 |
387 |
1.69e-3 |
SMART |
ZnF_C2H2
|
393 |
415 |
2.2e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
Apba2 |
T |
A |
7: 64,345,207 (GRCm39) |
D132E |
probably damaging |
Het |
Atp13a4 |
A |
G |
16: 29,288,098 (GRCm39) |
S258P |
probably damaging |
Het |
Bach2 |
T |
A |
4: 32,575,301 (GRCm39) |
M509K |
possibly damaging |
Het |
Ccdc186 |
T |
A |
19: 56,788,561 (GRCm39) |
K549N |
probably damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,094 (GRCm39) |
R238H |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 99,868,374 (GRCm39) |
C30Y |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,216,342 (GRCm39) |
Q520R |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,411 (GRCm39) |
|
probably null |
Het |
Ebna1bp2 |
T |
C |
4: 118,478,174 (GRCm39) |
C16R |
probably benign |
Het |
Grin2b |
A |
G |
6: 135,751,826 (GRCm39) |
Y579H |
possibly damaging |
Het |
Ifi206 |
C |
T |
1: 173,309,137 (GRCm39) |
M286I |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,492,908 (GRCm39) |
V2478I |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,511,950 (GRCm39) |
E6G |
unknown |
Het |
Ltbp2 |
T |
C |
12: 84,856,012 (GRCm39) |
S744G |
possibly damaging |
Het |
Magi3 |
T |
A |
3: 103,954,285 (GRCm39) |
N684I |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,449,206 (GRCm39) |
|
probably null |
Het |
Nphp4 |
G |
T |
4: 152,622,558 (GRCm39) |
Q614H |
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,217,509 (GRCm39) |
I11T |
probably damaging |
Het |
Or51q1 |
G |
T |
7: 103,628,771 (GRCm39) |
R124L |
possibly damaging |
Het |
Pank2 |
T |
C |
2: 131,104,627 (GRCm39) |
|
probably benign |
Het |
Prss58 |
A |
T |
6: 40,874,666 (GRCm39) |
N58K |
probably damaging |
Het |
Ptk7 |
C |
T |
17: 46,884,454 (GRCm39) |
V759M |
probably damaging |
Het |
Rassf7 |
A |
G |
7: 140,796,722 (GRCm39) |
T28A |
probably damaging |
Het |
Rbm45 |
C |
T |
2: 76,210,804 (GRCm39) |
T445I |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsrc2 |
T |
G |
5: 123,877,594 (GRCm39) |
|
probably benign |
Het |
Saxo2 |
A |
T |
7: 82,284,240 (GRCm39) |
I206N |
probably benign |
Het |
Sh3d19 |
T |
A |
3: 86,011,640 (GRCm39) |
Y409N |
probably damaging |
Het |
Spata31d1a |
A |
T |
13: 59,851,032 (GRCm39) |
N365K |
probably benign |
Het |
Stkld1 |
C |
G |
2: 26,833,922 (GRCm39) |
N136K |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,461,166 (GRCm39) |
D904G |
possibly damaging |
Het |
Tmf1 |
G |
A |
6: 97,138,408 (GRCm39) |
R837* |
probably null |
Het |
Tnn |
T |
C |
1: 159,948,278 (GRCm39) |
T812A |
possibly damaging |
Het |
Trgj4 |
T |
C |
13: 19,526,365 (GRCm39) |
L15P |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,059,147 (GRCm39) |
I905V |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,786,308 (GRCm39) |
|
probably benign |
Het |
Zfp446 |
T |
C |
7: 12,713,043 (GRCm39) |
L27P |
probably damaging |
Het |
Zfp719 |
A |
G |
7: 43,235,809 (GRCm39) |
D57G |
possibly damaging |
Het |
Zfp978 |
G |
A |
4: 147,475,284 (GRCm39) |
R277K |
probably benign |
Het |
|
Other mutations in Zfp747l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00561:Zfp747l1
|
APN |
7 |
126,985,716 (GRCm39) |
unclassified |
probably benign |
|
IGL03102:Zfp747l1
|
APN |
7 |
126,983,951 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03264:Zfp747l1
|
APN |
7 |
126,984,811 (GRCm39) |
unclassified |
probably benign |
|
R1653:Zfp747l1
|
UTSW |
7 |
126,983,652 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1692:Zfp747l1
|
UTSW |
7 |
126,983,652 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2042:Zfp747l1
|
UTSW |
7 |
126,984,641 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2132:Zfp747l1
|
UTSW |
7 |
126,986,107 (GRCm39) |
missense |
probably benign |
|
R3768:Zfp747l1
|
UTSW |
7 |
126,984,035 (GRCm39) |
unclassified |
probably benign |
|
R3769:Zfp747l1
|
UTSW |
7 |
126,984,035 (GRCm39) |
unclassified |
probably benign |
|
R3770:Zfp747l1
|
UTSW |
7 |
126,984,035 (GRCm39) |
unclassified |
probably benign |
|
R4459:Zfp747l1
|
UTSW |
7 |
126,983,917 (GRCm39) |
missense |
probably damaging |
0.98 |
R4461:Zfp747l1
|
UTSW |
7 |
126,983,917 (GRCm39) |
missense |
probably damaging |
0.98 |
R4839:Zfp747l1
|
UTSW |
7 |
126,984,179 (GRCm39) |
missense |
probably benign |
0.32 |
R4903:Zfp747l1
|
UTSW |
7 |
126,984,578 (GRCm39) |
missense |
probably benign |
0.02 |
R5231:Zfp747l1
|
UTSW |
7 |
126,984,586 (GRCm39) |
missense |
probably damaging |
0.98 |
R5324:Zfp747l1
|
UTSW |
7 |
126,984,079 (GRCm39) |
unclassified |
probably benign |
|
R5735:Zfp747l1
|
UTSW |
7 |
126,984,579 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5808:Zfp747l1
|
UTSW |
7 |
126,984,085 (GRCm39) |
unclassified |
probably benign |
|
R6429:Zfp747l1
|
UTSW |
7 |
126,984,214 (GRCm39) |
unclassified |
probably benign |
|
R6571:Zfp747l1
|
UTSW |
7 |
126,984,310 (GRCm39) |
unclassified |
probably benign |
|
R6655:Zfp747l1
|
UTSW |
7 |
126,983,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6962:Zfp747l1
|
UTSW |
7 |
126,983,487 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7091:Zfp747l1
|
UTSW |
7 |
126,983,534 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7204:Zfp747l1
|
UTSW |
7 |
126,983,518 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7218:Zfp747l1
|
UTSW |
7 |
126,983,852 (GRCm39) |
missense |
probably benign |
0.32 |
R7570:Zfp747l1
|
UTSW |
7 |
126,984,455 (GRCm39) |
missense |
probably benign |
0.00 |
R7604:Zfp747l1
|
UTSW |
7 |
126,985,707 (GRCm39) |
missense |
unknown |
|
R7661:Zfp747l1
|
UTSW |
7 |
126,984,135 (GRCm39) |
nonsense |
probably null |
|
R7893:Zfp747l1
|
UTSW |
7 |
126,985,716 (GRCm39) |
unclassified |
probably benign |
|
R8323:Zfp747l1
|
UTSW |
7 |
126,983,621 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9172:Zfp747l1
|
UTSW |
7 |
126,984,626 (GRCm39) |
missense |
probably benign |
0.38 |
R9204:Zfp747l1
|
UTSW |
7 |
126,984,332 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTAGATGAATCCAGGGGCCAG -3'
(R):5'- TATCTCGGTGAGAACCTTCCTG -3'
Sequencing Primer
(F):5'- GCTTTGGCCAGGAAACAGC -3'
(R):5'- TGAGAACCTTCCTGGCCGC -3'
|
Posted On |
2018-10-18 |