Incidental Mutation 'IGL02695:Ankfn1'
| ID |
303881 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankfn1
|
| Ensembl Gene |
ENSMUSG00000047773 |
| Gene Name |
ankyrin-repeat and fibronectin type III domain containing 1 |
| Synonyms |
LOC382543, 4932411E22Rik, nmf9, mWAKE |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
IGL02695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89282645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1013
(E1013G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050983]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050983
AA Change: E334G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049776
Gene: ENSMUSG00000047773
AA Change: E334G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207815
AA Change: E1013G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208932
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutant mice exhibit a variable and subtle head nodding phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,287,929 (GRCm39) |
M389K |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,080,203 (GRCm39) |
T252K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,912,625 (GRCm39) |
G1293D |
probably damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,576,120 (GRCm39) |
H451N |
possibly damaging |
Het |
| Cd300c2 |
C |
T |
11: 114,892,379 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,919,946 (GRCm39) |
Q637P |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,037 (GRCm39) |
I265F |
probably damaging |
Het |
| Dot1l |
C |
A |
10: 80,613,442 (GRCm39) |
T18K |
probably damaging |
Het |
| Fam83c |
T |
C |
2: 155,673,435 (GRCm39) |
D251G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,402 (GRCm39) |
K325R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,468 (GRCm39) |
I615F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,344,549 (GRCm39) |
N494S |
probably benign |
Het |
| Gnaz |
T |
C |
10: 74,827,974 (GRCm39) |
|
probably null |
Het |
| Haus5 |
A |
T |
7: 30,362,702 (GRCm39) |
L36Q |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,965,368 (GRCm39) |
G486D |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,298,985 (GRCm39) |
F2777S |
possibly damaging |
Het |
| Il1rl1 |
T |
C |
1: 40,485,718 (GRCm39) |
S290P |
possibly damaging |
Het |
| Itgam |
G |
T |
7: 127,685,113 (GRCm39) |
A409S |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,532,223 (GRCm39) |
M467K |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,876,771 (GRCm39) |
V2725G |
probably benign |
Het |
| Lhpp |
G |
A |
7: 132,252,063 (GRCm39) |
R234Q |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,236,955 (GRCm39) |
S65P |
possibly damaging |
Het |
| Mgat5 |
T |
A |
1: 127,339,868 (GRCm39) |
H416Q |
probably damaging |
Het |
| Mta2 |
A |
G |
19: 8,925,728 (GRCm39) |
T408A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,145,603 (GRCm39) |
I2974F |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,101,608 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
C |
T |
2: 36,677,332 (GRCm39) |
S265L |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,870 (GRCm39) |
S113P |
possibly damaging |
Het |
| Or52p1 |
A |
G |
7: 104,267,678 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5w22 |
C |
T |
2: 87,362,461 (GRCm39) |
T28I |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,820,150 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,451 (GRCm39) |
F309L |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,817,739 (GRCm39) |
Y536F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,933,486 (GRCm39) |
V433A |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,881,228 (GRCm39) |
N601Y |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,873,372 (GRCm39) |
V332F |
probably damaging |
Het |
| Stk11 |
A |
G |
10: 79,961,311 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
A |
G |
4: 107,050,511 (GRCm39) |
N147S |
probably benign |
Het |
|
| Other mutations in Ankfn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Ankfn1
|
APN |
11 |
89,282,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02519:Ankfn1
|
APN |
11 |
89,296,504 (GRCm39) |
missense |
probably benign |
|
|
IGL02818:Ankfn1
|
APN |
11 |
89,429,292 (GRCm39) |
missense |
probably benign |
|
|
IGL02821:Ankfn1
|
APN |
11 |
89,282,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03166:Ankfn1
|
APN |
11 |
89,429,264 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0056:Ankfn1
|
UTSW |
11 |
89,282,502 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0070:Ankfn1
|
UTSW |
11 |
89,283,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0070:Ankfn1
|
UTSW |
11 |
89,283,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0200:Ankfn1
|
UTSW |
11 |
89,332,792 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0427:Ankfn1
|
UTSW |
11 |
89,296,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0755:Ankfn1
|
UTSW |
11 |
89,282,913 (GRCm39) |
missense |
probably benign |
|
|
R1240:Ankfn1
|
UTSW |
11 |
89,282,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534:Ankfn1
|
UTSW |
11 |
89,413,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Ankfn1
|
UTSW |
11 |
89,332,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Ankfn1
|
UTSW |
11 |
89,417,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1595:Ankfn1
|
UTSW |
11 |
89,313,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1776:Ankfn1
|
UTSW |
11 |
89,417,300 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1835:Ankfn1
|
UTSW |
11 |
89,338,444 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2012:Ankfn1
|
UTSW |
11 |
89,296,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2037:Ankfn1
|
UTSW |
11 |
89,346,946 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2175:Ankfn1
|
UTSW |
11 |
89,417,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Ankfn1
|
UTSW |
11 |
89,282,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3778:Ankfn1
|
UTSW |
11 |
89,332,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Ankfn1
|
UTSW |
11 |
89,332,252 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5001:Ankfn1
|
UTSW |
11 |
89,332,268 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5318:Ankfn1
|
UTSW |
11 |
89,282,754 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5412:Ankfn1
|
UTSW |
11 |
89,396,007 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5434:Ankfn1
|
UTSW |
11 |
89,344,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Ankfn1
|
UTSW |
11 |
89,325,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5710:Ankfn1
|
UTSW |
11 |
89,394,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6457:Ankfn1
|
UTSW |
11 |
89,282,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7026:Ankfn1
|
UTSW |
11 |
89,530,403 (GRCm39) |
makesense |
probably null |
|
|
R7356:Ankfn1
|
UTSW |
11 |
89,325,599 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7499:Ankfn1
|
UTSW |
11 |
89,282,576 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7572:Ankfn1
|
UTSW |
11 |
89,312,097 (GRCm39) |
missense |
probably benign |
|
|
R7577:Ankfn1
|
UTSW |
11 |
89,394,797 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7582:Ankfn1
|
UTSW |
11 |
89,417,445 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7820:Ankfn1
|
UTSW |
11 |
89,311,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7908:Ankfn1
|
UTSW |
11 |
89,296,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Ankfn1
|
UTSW |
11 |
89,413,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8137:Ankfn1
|
UTSW |
11 |
89,344,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Ankfn1
|
UTSW |
11 |
89,417,271 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8295:Ankfn1
|
UTSW |
11 |
89,302,923 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8556:Ankfn1
|
UTSW |
11 |
89,332,268 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8708:Ankfn1
|
UTSW |
11 |
89,394,756 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8815:Ankfn1
|
UTSW |
11 |
89,282,602 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8835:Ankfn1
|
UTSW |
11 |
89,429,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8928:Ankfn1
|
UTSW |
11 |
89,429,279 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9011:Ankfn1
|
UTSW |
11 |
89,417,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9062:Ankfn1
|
UTSW |
11 |
89,325,583 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9129:Ankfn1
|
UTSW |
11 |
89,312,042 (GRCm39) |
missense |
|
|
|
R9153:Ankfn1
|
UTSW |
11 |
89,302,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Ankfn1
|
UTSW |
11 |
89,414,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9272:Ankfn1
|
UTSW |
11 |
89,413,875 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9377:Ankfn1
|
UTSW |
11 |
89,332,284 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9624:Ankfn1
|
UTSW |
11 |
89,414,033 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9643:Ankfn1
|
UTSW |
11 |
89,396,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0012:Ankfn1
|
UTSW |
11 |
89,316,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation