Incidental Mutation 'R4461:Zfp747l1'
| ID |
330149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp747l1
|
| Ensembl Gene |
ENSMUSG00000030823 |
| Gene Name |
zinc finger protein 747 like 1 |
| Synonyms |
9130019O22Rik |
| MMRRC Submission |
041720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4461 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126981432-126986338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126983917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 395
(L395P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049052]
[ENSMUST00000164345]
[ENSMUST00000165495]
|
| AlphaFold |
G3X941 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049052
AA Change: L395P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: L395P
| 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 |
|
| Meta Mutation Damage Score |
0.1854 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
T |
C |
17: 66,292,932 (GRCm39) |
|
probably null |
Het |
| Apex1 |
T |
C |
14: 51,163,970 (GRCm39) |
V165A |
probably damaging |
Het |
| Btbd17 |
C |
T |
11: 114,684,815 (GRCm39) |
D75N |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,190,622 (GRCm39) |
|
probably benign |
Het |
| Coq10a |
T |
C |
10: 128,200,347 (GRCm39) |
N138S |
possibly damaging |
Het |
| Ctbp1 |
A |
T |
5: 33,408,357 (GRCm39) |
Y192N |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,507,184 (GRCm39) |
*396W |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,299 (GRCm39) |
I154T |
unknown |
Het |
| Dao |
T |
A |
5: 114,157,987 (GRCm39) |
V203E |
probably damaging |
Het |
| Egr4 |
G |
A |
6: 85,489,322 (GRCm39) |
A246V |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,497 (GRCm39) |
V114E |
possibly damaging |
Het |
| Hpgds |
A |
G |
6: 65,100,618 (GRCm39) |
L120P |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,193,659 (GRCm39) |
V464I |
probably benign |
Het |
| Kank2 |
G |
A |
9: 21,706,041 (GRCm39) |
Q326* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,726,612 (GRCm39) |
S464P |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,874 (GRCm39) |
V3478A |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,890,080 (GRCm39) |
N44T |
probably benign |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,355,180 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,554,827 (GRCm39) |
P180S |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,089,359 (GRCm39) |
M1352K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,822,531 (GRCm39) |
S547T |
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,787,407 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,359,345 (GRCm39) |
|
probably null |
Het |
| Pzp |
T |
C |
6: 128,501,003 (GRCm39) |
I118M |
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,537,123 (GRCm39) |
D536Y |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Siglece |
T |
C |
7: 43,300,929 (GRCm39) |
Q462R |
probably benign |
Het |
| Sirt3 |
T |
C |
7: 140,444,913 (GRCm39) |
D295G |
possibly damaging |
Het |
| Snph |
G |
A |
2: 151,435,767 (GRCm39) |
S318L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,731 (GRCm39) |
T401A |
probably damaging |
Het |
| Tefm |
A |
G |
11: 80,028,875 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,733,665 (GRCm39) |
Y994C |
probably damaging |
Het |
| Trmt1 |
A |
G |
8: 85,425,778 (GRCm39) |
N531D |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,196,916 (GRCm39) |
V477A |
probably benign |
Het |
| Ubxn10 |
T |
A |
4: 138,448,187 (GRCm39) |
Q163L |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,985,950 (GRCm39) |
I908N |
possibly damaging |
Het |
| Zscan12 |
C |
T |
13: 21,550,789 (GRCm39) |
S136L |
possibly 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 |
|
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 |
|
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'- ACCTGTATGGATGCGCATGTG -3'
(R):5'- ACTGTGGGAAGGGTTTTACC -3'
Sequencing Primer
(F):5'- TGCCGCCGAAGATATTTGGAATC -3'
(R):5'- GCACATTGGTGGATCACATGTACTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation