Incidental Mutation 'R5324:Zfp747l1'
ID |
405020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp747l1
|
Ensembl Gene |
ENSMUSG00000030823 |
Gene Name |
zinc finger protein 747 like 1 |
Synonyms |
9130019O22Rik |
MMRRC Submission |
042907-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5324 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126981432-126986338 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 126984079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049052]
[ENSMUST00000164345]
[ENSMUST00000165495]
|
AlphaFold |
G3X941 |
Predicted Effect |
unknown
Transcript: ENSMUST00000049052
AA Change: S341Y
|
SMART Domains |
Protein: ENSMUSP00000038195 Gene: ENSMUSG00000030823 AA Change: S341Y
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: 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
Ap5b1 |
G |
A |
19: 5,619,863 (GRCm39) |
E428K |
possibly damaging |
Het |
Bmp2 |
C |
T |
2: 133,403,279 (GRCm39) |
R277* |
probably null |
Het |
Cbl |
A |
T |
9: 44,065,551 (GRCm39) |
S659T |
probably damaging |
Het |
Col14a1 |
A |
T |
15: 55,201,841 (GRCm39) |
H43L |
unknown |
Het |
Corin |
A |
G |
5: 72,592,600 (GRCm39) |
C133R |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,652 (GRCm39) |
N401S |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,132,227 (GRCm39) |
D508G |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,348,819 (GRCm39) |
H2556L |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,140,458 (GRCm39) |
F1333L |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,005,660 (GRCm39) |
K717E |
possibly damaging |
Het |
Fmn2 |
G |
A |
1: 174,436,446 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,978,617 (GRCm39) |
N510S |
probably damaging |
Het |
Lrguk |
T |
C |
6: 34,050,732 (GRCm39) |
S397P |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,953,570 (GRCm39) |
D617V |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
N6amt1 |
A |
G |
16: 87,151,241 (GRCm39) |
D34G |
probably damaging |
Het |
Nktr |
A |
T |
9: 121,556,412 (GRCm39) |
D30V |
probably damaging |
Het |
Or52ab7 |
T |
A |
7: 102,978,257 (GRCm39) |
M188K |
probably damaging |
Het |
Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
Pabpc1 |
A |
G |
15: 36,600,869 (GRCm39) |
F314L |
probably damaging |
Het |
Papln |
G |
A |
12: 83,821,345 (GRCm39) |
V226M |
probably damaging |
Het |
Parp12 |
A |
T |
6: 39,079,546 (GRCm39) |
D321E |
probably damaging |
Het |
Plch2 |
T |
A |
4: 155,068,991 (GRCm39) |
T1107S |
probably benign |
Het |
Psma2 |
T |
C |
13: 14,799,802 (GRCm39) |
L182P |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,105,401 (GRCm39) |
Y196C |
probably benign |
Het |
Rdh16 |
G |
A |
10: 127,637,136 (GRCm39) |
V24M |
probably damaging |
Het |
Rpe65 |
A |
G |
3: 159,310,041 (GRCm39) |
T105A |
possibly damaging |
Het |
Serpini1 |
T |
C |
3: 75,547,601 (GRCm39) |
I371T |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,191,674 (GRCm39) |
N920S |
probably benign |
Het |
Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,704,837 (GRCm39) |
D27V |
possibly damaging |
Het |
Zxdc |
T |
A |
6: 90,350,782 (GRCm39) |
I411N |
probably damaging |
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 |
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 |
R6806:Zfp747l1
|
UTSW |
7 |
126,985,766 (GRCm39) |
unclassified |
probably benign |
|
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'- TGAAGCAGCGTCCACAATC -3'
(R):5'- TGGCACACATGTACTCTCAC -3'
Sequencing Primer
(F):5'- AGTAAGGCTTCTCCCCAGTGTG -3'
(R):5'- CACAGGTGAAAAGCCGTTTC -3'
|
Posted On |
2016-07-22 |