Incidental Mutation 'IGL02512:Ankzf1'
| ID |
296605 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankzf1
|
| Ensembl Gene |
ENSMUSG00000026199 |
| Gene Name |
ankyrin repeat and zinc finger domain containing 1 |
| Synonyms |
D1Ertd161e, 2810025E10Rik, 1300008P06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL02512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75168795-75176031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75169222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 43
(L43M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000127625]
[ENSMUST00000145459]
[ENSMUST00000152233]
[ENSMUST00000189665]
[ENSMUST00000186744]
[ENSMUST00000189702]
[ENSMUST00000188347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040689
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
173 |
530 |
3.4e-134 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127625
AA Change: L43M
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137179
Gene: ENSMUSG00000026199
AA Change: L43M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
1e-10 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134378
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145459
AA Change: L43M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199
AA Change: L43M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
1e-9 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152233
AA Change: L43M
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199
AA Change: L43M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
6e-11 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
Blast:ANK
|
515 |
545 |
2e-9 |
BLAST |
|
ANK
|
556 |
585 |
6.81e-3 |
SMART |
|
coiled coil region
|
628 |
681 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189665
|
| SMART Domains |
Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189702
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188347
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
C |
A |
15: 90,111,752 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,924,827 (GRCm39) |
M104K |
probably benign |
Het |
| Ankrd37 |
A |
G |
8: 46,452,325 (GRCm39) |
L48P |
probably damaging |
Het |
| Ano10 |
A |
C |
9: 122,101,540 (GRCm39) |
V77G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,194,517 (GRCm39) |
V114I |
probably benign |
Het |
| Asah1 |
A |
C |
8: 41,813,344 (GRCm39) |
|
probably benign |
Het |
| Clpx |
A |
C |
9: 65,217,533 (GRCm39) |
I34L |
probably benign |
Het |
| Cnga2 |
G |
A |
X: 71,052,531 (GRCm39) |
V469I |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,856,950 (GRCm39) |
|
probably benign |
Het |
| Eaf1 |
A |
G |
14: 31,219,743 (GRCm39) |
T61A |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,017,115 (GRCm39) |
D624V |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,547,904 (GRCm39) |
D927G |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,180,380 (GRCm39) |
Y1801N |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,921,150 (GRCm39) |
Y292H |
probably damaging |
Het |
| Gpr174 |
A |
T |
X: 106,336,577 (GRCm39) |
K130* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,742,713 (GRCm39) |
V1379I |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,008 (GRCm39) |
D507E |
probably benign |
Het |
| Gsn |
A |
T |
2: 35,173,962 (GRCm39) |
K24* |
probably null |
Het |
| Ift80 |
A |
G |
3: 68,835,058 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
T |
A |
11: 3,449,661 (GRCm39) |
Y707F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,187,689 (GRCm39) |
F717L |
possibly damaging |
Het |
| Klhdc8a |
T |
C |
1: 132,230,895 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
G |
A |
8: 45,729,277 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,199,801 (GRCm39) |
|
probably null |
Het |
| Nampt |
T |
A |
12: 32,880,268 (GRCm39) |
Y54N |
possibly damaging |
Het |
| Neurog2 |
G |
T |
3: 127,427,504 (GRCm39) |
E43* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,919,343 (GRCm39) |
R6887H |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,402 (GRCm39) |
I190M |
possibly damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,182,171 (GRCm39) |
N137D |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,119 (GRCm39) |
I257T |
possibly damaging |
Het |
| Pdss1 |
A |
G |
2: 22,802,658 (GRCm39) |
I166V |
probably damaging |
Het |
| Phaf1 |
G |
A |
8: 105,961,110 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,645,651 (GRCm39) |
T1096A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,245,425 (GRCm39) |
Y728H |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,555,052 (GRCm39) |
D56G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,386 (GRCm39) |
V683E |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,864,478 (GRCm39) |
D358G |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,851 (GRCm39) |
S241T |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,957,735 (GRCm39) |
P346S |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,215 (GRCm39) |
S324T |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,123 (GRCm39) |
Y168H |
probably damaging |
Het |
| St3gal6 |
C |
T |
16: 58,293,822 (GRCm39) |
E236K |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,175,069 (GRCm39) |
M1426K |
probably benign |
Het |
| Tinag |
A |
T |
9: 76,939,069 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,993,415 (GRCm39) |
S53P |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,188,431 (GRCm39) |
T543A |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,764,448 (GRCm39) |
W2147R |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,465 (GRCm39) |
C641Y |
probably damaging |
Het |
|
| Other mutations in Ankzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Ankzf1
|
APN |
1 |
75,169,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02880:Ankzf1
|
APN |
1 |
75,169,312 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0207:Ankzf1
|
UTSW |
1 |
75,174,948 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1543:Ankzf1
|
UTSW |
1 |
75,169,160 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1663:Ankzf1
|
UTSW |
1 |
75,172,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Ankzf1
|
UTSW |
1 |
75,174,772 (GRCm39) |
splice site |
probably null |
|
|
R2074:Ankzf1
|
UTSW |
1 |
75,172,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Ankzf1
|
UTSW |
1 |
75,171,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Ankzf1
|
UTSW |
1 |
75,170,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5016:Ankzf1
|
UTSW |
1 |
75,172,622 (GRCm39) |
unclassified |
probably benign |
|
|
R6159:Ankzf1
|
UTSW |
1 |
75,170,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Ankzf1
|
UTSW |
1 |
75,173,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6578:Ankzf1
|
UTSW |
1 |
75,174,401 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7500:Ankzf1
|
UTSW |
1 |
75,174,623 (GRCm39) |
missense |
probably benign |
|
|
R9158:Ankzf1
|
UTSW |
1 |
75,173,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Ankzf1
|
UTSW |
1 |
75,174,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9691:Ankzf1
|
UTSW |
1 |
75,175,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF016:Ankzf1
|
UTSW |
1 |
75,172,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation