Incidental Mutation 'R6159:Ankzf1'
ID |
489732 |
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 |
044306-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R6159 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75168795-75176031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 75170888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 98
(C98Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000127625]
[ENSMUST00000145459]
[ENSMUST00000152233]
[ENSMUST00000186744]
[ENSMUST00000189665]
[ENSMUST00000155716]
[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 |
probably damaging
Transcript: ENSMUST00000127625
AA Change: C98Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137179 Gene: ENSMUSG00000026199 AA Change: C98Y
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: C98Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135971 Gene: ENSMUSG00000026199 AA Change: C98Y
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: C98Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136163 Gene: ENSMUSG00000026199 AA Change: C98Y
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: ENSMUST00000151887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
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: 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: 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: ENSMUST00000189820
|
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 |
|
Meta Mutation Damage Score |
0.9156 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl2 |
A |
C |
6: 29,908,457 (GRCm39) |
N609T |
possibly damaging |
Het |
Atg101 |
T |
A |
15: 101,188,519 (GRCm39) |
M208K |
possibly damaging |
Het |
Baiap2l2 |
A |
G |
15: 79,143,930 (GRCm39) |
I388T |
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Chrnd |
T |
A |
1: 87,118,812 (GRCm39) |
D56E |
probably benign |
Het |
Col28a1 |
A |
T |
6: 8,162,247 (GRCm39) |
|
probably null |
Het |
Col4a1 |
G |
T |
8: 11,270,007 (GRCm39) |
P899Q |
probably damaging |
Het |
Cts3 |
C |
A |
13: 61,714,655 (GRCm39) |
A217S |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,465,941 (GRCm39) |
N495S |
possibly damaging |
Het |
Dnah2 |
T |
A |
11: 69,349,368 (GRCm39) |
I2423F |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock6 |
T |
C |
9: 21,733,041 (GRCm39) |
H1053R |
probably benign |
Het |
Eif1ad14 |
G |
A |
12: 87,886,521 (GRCm39) |
A36V |
probably damaging |
Het |
Fam184a |
G |
A |
10: 53,574,869 (GRCm39) |
L191F |
probably damaging |
Het |
Fbxl9 |
T |
C |
8: 106,049,925 (GRCm39) |
Y33C |
probably damaging |
Het |
Fip1l1 |
C |
T |
5: 74,752,608 (GRCm39) |
R472W |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,338,018 (GRCm39) |
F378S |
probably damaging |
Het |
Ggt1 |
A |
T |
10: 75,420,799 (GRCm39) |
E388V |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,638,050 (GRCm39) |
T375A |
probably benign |
Het |
Gm43302 |
A |
G |
5: 105,436,894 (GRCm39) |
S71P |
probably benign |
Het |
Gnrhr |
G |
T |
5: 86,330,216 (GRCm39) |
T268K |
probably damaging |
Het |
Htt |
T |
C |
5: 34,962,020 (GRCm39) |
V335A |
probably benign |
Het |
Klhl20 |
A |
T |
1: 160,933,037 (GRCm39) |
L257H |
probably damaging |
Het |
Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
Muc5ac |
T |
A |
7: 141,369,323 (GRCm39) |
C2433S |
possibly damaging |
Het |
Nasp |
A |
G |
4: 116,461,086 (GRCm39) |
|
probably null |
Het |
Nipal2 |
A |
C |
15: 34,600,172 (GRCm39) |
V215G |
probably damaging |
Het |
Or10al5 |
A |
T |
17: 38,063,038 (GRCm39) |
I98F |
probably damaging |
Het |
Or9i1b |
C |
T |
19: 13,897,104 (GRCm39) |
T240I |
probably damaging |
Het |
Oxct2b |
G |
A |
4: 123,011,244 (GRCm39) |
R388H |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,774,240 (GRCm39) |
I469V |
possibly damaging |
Het |
Phyhip |
A |
G |
14: 70,704,294 (GRCm39) |
H171R |
possibly damaging |
Het |
Pigs |
C |
T |
11: 78,219,326 (GRCm39) |
T9M |
probably benign |
Het |
Plek |
T |
C |
11: 16,935,539 (GRCm39) |
D256G |
probably damaging |
Het |
Prss50 |
T |
C |
9: 110,693,371 (GRCm39) |
V369A |
probably benign |
Het |
Psmc5 |
A |
G |
11: 106,152,088 (GRCm39) |
K82E |
possibly damaging |
Het |
Qrsl1 |
A |
T |
10: 43,758,189 (GRCm39) |
F301L |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,797,673 (GRCm39) |
L135P |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,159 (GRCm39) |
V148A |
probably damaging |
Het |
Scyl1 |
T |
A |
19: 5,814,785 (GRCm39) |
D381V |
probably benign |
Het |
Selplg |
G |
T |
5: 113,957,162 (GRCm39) |
D381E |
probably benign |
Het |
Sh3rf2 |
C |
A |
18: 42,289,200 (GRCm39) |
Q674K |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,210,659 (GRCm39) |
T987A |
probably benign |
Het |
Sntb1 |
A |
G |
15: 55,539,698 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
T |
17: 6,036,327 (GRCm39) |
I14F |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,926,440 (GRCm39) |
M170K |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,607,096 (GRCm39) |
E211G |
possibly damaging |
Het |
Thnsl1 |
G |
T |
2: 21,217,016 (GRCm39) |
E257* |
probably null |
Het |
Tlr4 |
A |
G |
4: 66,758,070 (GRCm39) |
R288G |
possibly damaging |
Het |
Trbc1 |
T |
C |
6: 41,515,385 (GRCm39) |
|
probably benign |
Het |
Trim37 |
G |
A |
11: 87,107,374 (GRCm39) |
|
probably null |
Het |
Txnrd3 |
T |
C |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
Tyk2 |
C |
A |
9: 21,021,800 (GRCm39) |
Q875H |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,698 (GRCm39) |
Y761H |
probably damaging |
Het |
Zswim5 |
T |
C |
4: 116,836,876 (GRCm39) |
L720P |
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 |
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 |
|
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'- TTGGAAGGCAAGGTCATGC -3'
(R):5'- AGGTAAATCCATGTCCACCTCC -3'
Sequencing Primer
(F):5'- GCAAGGTCATGCCATCTTTTTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2017-10-10 |