Incidental Mutation 'IGL02262:Zfp541'
ID |
286800 |
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: 0.750)
|
Stock # |
IGL02262
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15795739-15830259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15813620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 758
(K758E)
|
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: K758E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104149 Gene: ENSMUSG00000078796 AA Change: K758E
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: K758E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210805
AA Change: K758E
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
G |
T |
10: 14,317,140 (GRCm39) |
A560E |
probably benign |
Het |
Apol7c |
A |
T |
15: 77,410,013 (GRCm39) |
M311K |
probably benign |
Het |
Arap2 |
A |
C |
5: 62,800,184 (GRCm39) |
V1281G |
probably damaging |
Het |
Cacna1s |
C |
T |
1: 136,035,867 (GRCm39) |
T1388I |
probably damaging |
Het |
Dcaf13 |
T |
C |
15: 38,982,102 (GRCm39) |
|
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,656,414 (GRCm39) |
G1585S |
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,643,378 (GRCm39) |
V1266I |
probably benign |
Het |
Epc1 |
A |
G |
18: 6,437,278 (GRCm39) |
L750P |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,961,490 (GRCm39) |
M1108K |
probably damaging |
Het |
Gm14496 |
T |
C |
2: 181,637,805 (GRCm39) |
I293T |
probably damaging |
Het |
Gm21759 |
T |
C |
5: 8,230,747 (GRCm39) |
|
probably benign |
Het |
Igkv3-10 |
A |
T |
6: 70,550,154 (GRCm39) |
D100V |
possibly damaging |
Het |
Ipo13 |
A |
C |
4: 117,761,010 (GRCm39) |
I569M |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,743,633 (GRCm39) |
Y1243C |
probably benign |
Het |
Map3k12 |
T |
C |
15: 102,410,510 (GRCm39) |
E489G |
probably damaging |
Het |
Mtcl2 |
A |
T |
2: 156,872,826 (GRCm39) |
V895E |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 91,011,636 (GRCm39) |
V331A |
probably damaging |
Het |
Ntrk1 |
G |
A |
3: 87,689,104 (GRCm39) |
L529F |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,359 (GRCm39) |
C6882S |
possibly damaging |
Het |
Or14j5 |
A |
C |
17: 38,162,154 (GRCm39) |
T224P |
probably damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Ppp1r13b |
C |
A |
12: 111,801,645 (GRCm39) |
L346F |
possibly damaging |
Het |
Psg22 |
T |
C |
7: 18,458,496 (GRCm39) |
S396P |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,281,470 (GRCm39) |
E797G |
probably damaging |
Het |
Ros1 |
T |
G |
10: 52,055,065 (GRCm39) |
D79A |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,487,499 (GRCm39) |
V612I |
possibly damaging |
Het |
Sema4c |
A |
G |
1: 36,589,422 (GRCm39) |
V568A |
probably damaging |
Het |
Traf5 |
A |
G |
1: 191,729,636 (GRCm39) |
F472L |
probably damaging |
Het |
Trim30b |
C |
T |
7: 104,015,107 (GRCm39) |
V94M |
probably damaging |
Het |
Wasl |
A |
T |
6: 24,619,186 (GRCm39) |
S445T |
unknown |
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 |
IGL02347:Zfp541
|
APN |
7 |
15,817,390 (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 |