Incidental Mutation 'IGL00499:Zfp341'
ID |
6996 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp341
|
Ensembl Gene |
ENSMUSG00000059842 |
Gene Name |
zinc finger protein 341 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00499
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
154455217-154488741 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 154476151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 446
(T446I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081926]
[ENSMUST00000109702]
[ENSMUST00000126421]
|
AlphaFold |
Q6PGC9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081926
AA Change: T453I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080596 Gene: ENSMUSG00000059842 AA Change: T453I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
53 |
73 |
4.16e1 |
SMART |
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
low complexity region
|
154 |
161 |
N/A |
INTRINSIC |
low complexity region
|
177 |
200 |
N/A |
INTRINSIC |
ZnF_C2H2
|
320 |
342 |
3.69e-4 |
SMART |
ZnF_C2H2
|
348 |
370 |
1.04e-3 |
SMART |
ZnF_C2H2
|
442 |
464 |
1.45e-2 |
SMART |
ZnF_C2H2
|
470 |
494 |
2.17e-1 |
SMART |
ZnF_C2H2
|
500 |
522 |
2.91e-2 |
SMART |
ZnF_C2H2
|
537 |
561 |
1.23e0 |
SMART |
ZnF_C2H2
|
563 |
585 |
3.58e-2 |
SMART |
ZnF_C2H2
|
591 |
613 |
1.62e0 |
SMART |
ZnF_C2H2
|
619 |
641 |
2.27e-4 |
SMART |
ZnF_C2H2
|
647 |
674 |
7.29e0 |
SMART |
ZnF_C2H2
|
680 |
702 |
5.14e-3 |
SMART |
low complexity region
|
740 |
759 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109702
AA Change: T446I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105324 Gene: ENSMUSG00000059842 AA Change: T446I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
53 |
73 |
4.16e1 |
SMART |
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
low complexity region
|
154 |
161 |
N/A |
INTRINSIC |
low complexity region
|
177 |
200 |
N/A |
INTRINSIC |
ZnF_C2H2
|
313 |
335 |
3.69e-4 |
SMART |
ZnF_C2H2
|
341 |
363 |
1.04e-3 |
SMART |
ZnF_C2H2
|
435 |
457 |
1.45e-2 |
SMART |
ZnF_C2H2
|
463 |
487 |
2.17e-1 |
SMART |
ZnF_C2H2
|
493 |
515 |
2.91e-2 |
SMART |
ZnF_C2H2
|
530 |
554 |
1.23e0 |
SMART |
ZnF_C2H2
|
556 |
578 |
3.58e-2 |
SMART |
ZnF_C2H2
|
584 |
606 |
1.62e0 |
SMART |
ZnF_C2H2
|
612 |
634 |
2.27e-4 |
SMART |
ZnF_C2H2
|
640 |
667 |
7.29e0 |
SMART |
ZnF_C2H2
|
673 |
695 |
5.14e-3 |
SMART |
low complexity region
|
733 |
752 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153208
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zfp341 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01352:Zfp341
|
APN |
2 |
154,470,816 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01748:Zfp341
|
APN |
2 |
154,470,847 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02260:Zfp341
|
APN |
2 |
154,483,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02329:Zfp341
|
APN |
2 |
154,474,224 (GRCm39) |
missense |
possibly damaging |
0.90 |
casanova_grimbacher
|
UTSW |
2 |
154,466,801 (GRCm39) |
missense |
probably damaging |
1.00 |
Specious
|
UTSW |
2 |
154,488,054 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0079:Zfp341
|
UTSW |
2 |
154,466,914 (GRCm39) |
nonsense |
probably null |
|
R0570:Zfp341
|
UTSW |
2 |
154,487,988 (GRCm39) |
missense |
probably benign |
0.02 |
R0620:Zfp341
|
UTSW |
2 |
154,476,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1018:Zfp341
|
UTSW |
2 |
154,487,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Zfp341
|
UTSW |
2 |
154,487,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R1733:Zfp341
|
UTSW |
2 |
154,483,298 (GRCm39) |
missense |
probably benign |
0.19 |
R1822:Zfp341
|
UTSW |
2 |
154,488,054 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1956:Zfp341
|
UTSW |
2 |
154,480,132 (GRCm39) |
missense |
probably benign |
0.09 |
R2437:Zfp341
|
UTSW |
2 |
154,470,721 (GRCm39) |
missense |
probably damaging |
0.97 |
R3623:Zfp341
|
UTSW |
2 |
154,466,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4417:Zfp341
|
UTSW |
2 |
154,470,907 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4806:Zfp341
|
UTSW |
2 |
154,487,786 (GRCm39) |
utr 3 prime |
probably benign |
|
R4807:Zfp341
|
UTSW |
2 |
154,487,786 (GRCm39) |
utr 3 prime |
probably benign |
|
R4863:Zfp341
|
UTSW |
2 |
154,487,786 (GRCm39) |
utr 3 prime |
probably benign |
|
R4955:Zfp341
|
UTSW |
2 |
154,479,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R4962:Zfp341
|
UTSW |
2 |
154,468,734 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5484:Zfp341
|
UTSW |
2 |
154,466,921 (GRCm39) |
missense |
probably benign |
0.00 |
R5864:Zfp341
|
UTSW |
2 |
154,485,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5877:Zfp341
|
UTSW |
2 |
154,474,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R5975:Zfp341
|
UTSW |
2 |
154,472,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Zfp341
|
UTSW |
2 |
154,487,579 (GRCm39) |
missense |
probably damaging |
0.98 |
R6057:Zfp341
|
UTSW |
2 |
154,466,954 (GRCm39) |
missense |
probably benign |
0.01 |
R6882:Zfp341
|
UTSW |
2 |
154,479,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Zfp341
|
UTSW |
2 |
154,466,781 (GRCm39) |
missense |
probably damaging |
0.96 |
R7701:Zfp341
|
UTSW |
2 |
154,476,000 (GRCm39) |
splice site |
probably null |
|
R7847:Zfp341
|
UTSW |
2 |
154,476,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R8109:Zfp341
|
UTSW |
2 |
154,469,820 (GRCm39) |
missense |
probably benign |
0.04 |
R9313:Zfp341
|
UTSW |
2 |
154,469,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Zfp341
|
UTSW |
2 |
154,485,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |