Incidental Mutation 'IGL02347:Zfp541'
| ID |
289332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp541
|
| Ensembl Gene |
ENSMUSG00000078796 |
| Gene Name |
zinc finger protein 541 |
| Synonyms |
EG666528 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
IGL02347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15795739-15830259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15817390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 945
(Y945C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108509]
[ENSMUST00000209369]
[ENSMUST00000210805]
|
| AlphaFold |
Q0GGX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108509
AA Change: Y1006C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: Y1006C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
140 |
162 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
196 |
221 |
2.36e-2 |
SMART |
|
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
838 |
860 |
3.72e0 |
SMART |
|
low complexity region
|
953 |
958 |
N/A |
INTRINSIC |
|
ELM2
|
1065 |
1122 |
4.46e-14 |
SMART |
|
SANT
|
1171 |
1219 |
8.38e-7 |
SMART |
|
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1301 |
1323 |
1.01e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209369
AA Change: Y1006C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210805
AA Change: Y945C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,835 (GRCm39) |
K35* |
probably null |
Het |
| Adad2 |
G |
T |
8: 120,343,408 (GRCm39) |
G546V |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,311,105 (GRCm39) |
K7E |
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Car12 |
T |
A |
9: 66,671,629 (GRCm39) |
V352D |
possibly damaging |
Het |
| Cyp2d11 |
G |
A |
15: 82,274,681 (GRCm39) |
R299C |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,910,487 (GRCm39) |
|
probably null |
Het |
| Eddm13 |
A |
G |
7: 6,272,883 (GRCm39) |
I79M |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,472,026 (GRCm39) |
N1199K |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,600 (GRCm39) |
W568R |
possibly damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,359 (GRCm39) |
D90G |
probably damaging |
Het |
| Emc3 |
A |
G |
6: 113,497,533 (GRCm39) |
M106T |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,587,757 (GRCm39) |
K514E |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Frg2f1 |
A |
C |
4: 119,387,929 (GRCm39) |
L190R |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,270,023 (GRCm39) |
|
probably null |
Het |
| Glis3 |
A |
G |
19: 28,509,283 (GRCm39) |
F234L |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,530,557 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
T |
A |
17: 36,596,505 (GRCm39) |
E113D |
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,441,756 (GRCm39) |
T685A |
probably benign |
Het |
| Mrpl19 |
A |
T |
6: 81,938,992 (GRCm39) |
M270K |
probably damaging |
Het |
| Msantd4 |
G |
T |
9: 4,384,734 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
T |
8: 40,085,778 (GRCm39) |
T34K |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,332,691 (GRCm39) |
V780M |
probably benign |
Het |
| Nsun6 |
A |
G |
2: 15,034,831 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,912,695 (GRCm39) |
|
probably benign |
Het |
| Nucb2 |
A |
C |
7: 116,135,113 (GRCm39) |
Q340P |
probably benign |
Het |
| Nup50l |
A |
T |
6: 96,142,511 (GRCm39) |
Y178N |
probably damaging |
Het |
| Or2l13b |
A |
G |
16: 19,349,529 (GRCm39) |
L47P |
probably damaging |
Het |
| Or3a1b |
C |
T |
11: 74,012,397 (GRCm39) |
T94I |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,172,277 (GRCm39) |
E357G |
probably benign |
Het |
| Pabpc6 |
C |
T |
17: 9,887,993 (GRCm39) |
R186K |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,653,350 (GRCm39) |
K83R |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,502,526 (GRCm39) |
I82V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,229,471 (GRCm39) |
V27E |
probably benign |
Het |
| Rnaseh1 |
A |
T |
12: 28,707,629 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,729 (GRCm39) |
V89A |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,145 (GRCm39) |
V38I |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,149,780 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,643,520 (GRCm39) |
D953E |
probably benign |
Het |
| Strbp |
A |
C |
2: 37,535,660 (GRCm39) |
V16G |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,800,863 (GRCm39) |
M567K |
probably benign |
Het |
| Tedc2 |
A |
C |
17: 24,439,584 (GRCm39) |
V19G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,950,812 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,539,564 (GRCm39) |
V26147E |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,574 (GRCm39) |
S51P |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,067 (GRCm39) |
T488A |
possibly damaging |
Het |
|
| Other mutations in Zfp541 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02162:Zfp541
|
APN |
7 |
15,813,393 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02262:Zfp541
|
APN |
7 |
15,813,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Zfp541
|
APN |
7 |
15,816,918 (GRCm39) |
splice site |
probably null |
|
|
R0101:Zfp541
|
UTSW |
7 |
15,811,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Zfp541
|
UTSW |
7 |
15,816,099 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0627:Zfp541
|
UTSW |
7 |
15,829,607 (GRCm39) |
splice site |
probably benign |
|
|
R0784:Zfp541
|
UTSW |
7 |
15,816,917 (GRCm39) |
intron |
probably benign |
|
|
R1083:Zfp541
|
UTSW |
7 |
15,812,637 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1541:Zfp541
|
UTSW |
7 |
15,812,437 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1575:Zfp541
|
UTSW |
7 |
15,812,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1730:Zfp541
|
UTSW |
7 |
15,811,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1783:Zfp541
|
UTSW |
7 |
15,811,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1966:Zfp541
|
UTSW |
7 |
15,812,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2022:Zfp541
|
UTSW |
7 |
15,816,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2048:Zfp541
|
UTSW |
7 |
15,812,252 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2436:Zfp541
|
UTSW |
7 |
15,810,373 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3973:Zfp541
|
UTSW |
7 |
15,806,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Zfp541
|
UTSW |
7 |
15,806,060 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4589:Zfp541
|
UTSW |
7 |
15,817,261 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4724:Zfp541
|
UTSW |
7 |
15,815,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4812:Zfp541
|
UTSW |
7 |
15,813,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4817:Zfp541
|
UTSW |
7 |
15,824,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5232:Zfp541
|
UTSW |
7 |
15,829,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Zfp541
|
UTSW |
7 |
15,829,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Zfp541
|
UTSW |
7 |
15,824,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Zfp541
|
UTSW |
7 |
15,810,344 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6259:Zfp541
|
UTSW |
7 |
15,829,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6523:Zfp541
|
UTSW |
7 |
15,829,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Zfp541
|
UTSW |
7 |
15,812,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7319:Zfp541
|
UTSW |
7 |
15,813,294 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7428:Zfp541
|
UTSW |
7 |
15,826,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Zfp541
|
UTSW |
7 |
15,810,311 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7724:Zfp541
|
UTSW |
7 |
15,805,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Zfp541
|
UTSW |
7 |
15,813,009 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8433:Zfp541
|
UTSW |
7 |
15,805,999 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9068:Zfp541
|
UTSW |
7 |
15,812,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9086:Zfp541
|
UTSW |
7 |
15,824,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Zfp541
|
UTSW |
7 |
15,816,966 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9261:Zfp541
|
UTSW |
7 |
15,816,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9408:Zfp541
|
UTSW |
7 |
15,806,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9518:Zfp541
|
UTSW |
7 |
15,813,036 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9621:Zfp541
|
UTSW |
7 |
15,805,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Zfp541
|
UTSW |
7 |
15,813,720 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Zfp541
|
UTSW |
7 |
15,812,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp541
|
UTSW |
7 |
15,816,092 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Zfp541
|
UTSW |
7 |
15,812,954 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Zfp541
|
UTSW |
7 |
15,812,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation