Incidental Mutation 'R5016:Ankzf1'
ID |
385552 |
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 |
042607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R5016 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75168795-75176031 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 75172622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000113623]
[ENSMUST00000127625]
[ENSMUST00000186744]
[ENSMUST00000155716]
[ENSMUST00000152233]
[ENSMUST00000145459]
[ENSMUST00000189665]
[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 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 benign
Transcript: ENSMUST00000127625
|
SMART Domains |
Protein: ENSMUSP00000137179 Gene: ENSMUSG00000026199
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: ENSMUST00000186148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134378
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146713
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
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: ENSMUST00000152233
|
SMART Domains |
Protein: ENSMUSP00000136163 Gene: ENSMUSG00000026199
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 benign
Transcript: ENSMUST00000145459
|
SMART Domains |
Protein: ENSMUSP00000135971 Gene: ENSMUSG00000026199
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: ENSMUST00000188430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189663
|
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: 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 |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
probably benign |
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 |
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'- CTGCCAGGTCTACAGTACTGAG -3'
(R):5'- AGGTTGCGAACATCCTAAAGAG -3'
Sequencing Primer
(F):5'- CCAGGTCTACAGTACTGAGTCTGTG -3'
(R):5'- TCCTAAAGAGAGTAACTCCACTTAG -3'
|
Posted On |
2016-05-10 |