Incidental Mutation 'IGL01115:Ankzf1'
ID |
50295 |
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 # |
IGL01115
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75168795-75176031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75169259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 55
(L55P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000127625]
[ENSMUST00000145459]
[ENSMUST00000152233]
[ENSMUST00000189702]
[ENSMUST00000189665]
[ENSMUST00000188347]
[ENSMUST00000186744]
|
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 |
probably damaging
Transcript: ENSMUST00000127625
AA Change: L55P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137179 Gene: ENSMUSG00000026199 AA Change: L55P
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: L55P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135971 Gene: ENSMUSG00000026199 AA Change: L55P
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 |
probably damaging
Transcript: ENSMUST00000152233
AA Change: L55P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136163 Gene: ENSMUSG00000026199 AA Change: L55P
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: ENSMUST00000188430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189820
|
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: 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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
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 |
Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ankzf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02512:Ankzf1
|
APN |
1 |
75,169,222 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-06-21 |