Incidental Mutation 'R2358:Ankzf1'
| ID |
246984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankzf1
|
| Ensembl Gene |
ENSMUSG00000026199 |
| Gene Name |
ankyrin repeat and zinc finger domain containing 1 |
| Synonyms |
D1Ertd161e, 2810025E10Rik, 1300008P06Rik |
| MMRRC Submission |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75168795-75176031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75171895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 209
(H209Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000113623]
[ENSMUST00000127625]
[ENSMUST00000152233]
[ENSMUST00000145459]
[ENSMUST00000155716]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189665]
[ENSMUST00000189702]
|
| 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 benign
Transcript: ENSMUST00000113623
|
| SMART Domains |
Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
34 |
351 |
4.1e-123 |
PFAM |
|
Pfam:Glyco_hydro_42
|
48 |
209 |
6.6e-12 |
PFAM |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127625
AA Change: H209Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137179
Gene: ENSMUSG00000026199
AA Change: H209Y
| 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: ENSMUST00000132507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134233
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152233
AA Change: H209Y
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199
AA Change: H209Y
| 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 |
probably damaging
Transcript: ENSMUST00000145459
AA Change: H209Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199
AA Change: H209Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000186148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186173
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155716
|
| SMART Domains |
Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
34 |
351 |
4.2e-125 |
PFAM |
|
Pfam:Glyco_hydro_42
|
48 |
209 |
6.6e-12 |
PFAM |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.2047 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGCATCTCAGGATCAGATG -3'
(R):5'- TCATGGCTTCAAGAGGTAGTAGTG -3'
Sequencing Primer
(F):5'- GATGACACAGACTCCAGCAGTG -3'
(R):5'- CTTCAAGAGGTAGTAGTGGAAGATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation