Incidental Mutation 'R6457:Ankfn1'
ID |
516544 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankfn1
|
Ensembl Gene |
ENSMUSG00000047773 |
Gene Name |
ankyrin-repeat and fibronectin type III domain containing 1 |
Synonyms |
LOC382543, 4932411E22Rik, nmf9, mWAKE |
MMRRC Submission |
044592-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
R6457 (G1)
|
Quality Score |
211.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 89282670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 326
(A326T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050983]
|
AlphaFold |
A0A571BF63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050983
AA Change: A326T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000049776 Gene: ENSMUSG00000047773 AA Change: A326T
Domain | Start | End | E-Value | Type |
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207815
AA Change: A1005T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208932
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
97% (63/65) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,772,383 (GRCm39) |
V524E |
probably damaging |
Het |
Acer2 |
T |
A |
4: 86,818,808 (GRCm39) |
M152K |
probably damaging |
Het |
Actn3 |
T |
C |
19: 4,921,876 (GRCm39) |
D130G |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,577,983 (GRCm39) |
F211Y |
probably damaging |
Het |
Ankrd11 |
G |
A |
8: 123,635,503 (GRCm39) |
R44C |
probably damaging |
Het |
Ankrd46 |
A |
G |
15: 36,484,217 (GRCm39) |
|
probably benign |
Het |
Aurkb |
G |
A |
11: 68,939,172 (GRCm39) |
E132K |
possibly damaging |
Het |
Bsdc1 |
C |
T |
4: 129,359,069 (GRCm39) |
T9I |
possibly damaging |
Het |
Card14 |
C |
T |
11: 119,230,428 (GRCm39) |
R767* |
probably null |
Het |
Ccdc82 |
T |
A |
9: 13,272,745 (GRCm39) |
F411L |
possibly damaging |
Het |
Col12a1 |
C |
T |
9: 79,552,973 (GRCm39) |
G2106D |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
Cox10 |
A |
G |
11: 63,855,198 (GRCm39) |
L361P |
probably damaging |
Het |
Cox18 |
A |
G |
5: 90,371,548 (GRCm39) |
I84T |
probably benign |
Het |
Dhrs3 |
T |
C |
4: 144,646,522 (GRCm39) |
S125P |
probably damaging |
Het |
Fbxl15 |
A |
G |
19: 46,317,765 (GRCm39) |
H149R |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,789 (GRCm39) |
S2234T |
unknown |
Het |
Gtf2e1 |
A |
C |
16: 37,356,698 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
A |
T |
17: 35,658,655 (GRCm39) |
S98C |
probably damaging |
Het |
Hcn2 |
G |
T |
10: 79,569,607 (GRCm39) |
E536* |
probably null |
Het |
Kat6b |
A |
T |
14: 21,720,748 (GRCm39) |
H1700L |
probably damaging |
Het |
Klhl3 |
C |
T |
13: 58,248,192 (GRCm39) |
V35I |
probably benign |
Het |
Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,416,663 (GRCm39) |
S644P |
probably damaging |
Het |
Magi1 |
A |
T |
6: 93,676,620 (GRCm39) |
V685E |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 15,531,408 (GRCm39) |
|
probably benign |
Het |
Malrd1 |
A |
T |
2: 15,672,740 (GRCm39) |
H599L |
probably benign |
Het |
Matn2 |
T |
A |
15: 34,426,380 (GRCm39) |
C631S |
probably damaging |
Het |
Megf8 |
A |
T |
7: 25,049,120 (GRCm39) |
D1739V |
probably damaging |
Het |
Mlf1 |
G |
A |
3: 67,300,277 (GRCm39) |
R98Q |
probably benign |
Het |
Mprip |
T |
A |
11: 59,649,815 (GRCm39) |
I1173K |
possibly damaging |
Het |
Mrc1 |
A |
G |
2: 14,275,016 (GRCm39) |
D439G |
probably damaging |
Het |
Mroh5 |
A |
T |
15: 73,662,691 (GRCm39) |
W208R |
probably damaging |
Het |
Ms4a5 |
T |
G |
19: 11,256,646 (GRCm39) |
I84L |
probably benign |
Het |
Myt1 |
G |
A |
2: 181,405,218 (GRCm39) |
|
probably null |
Het |
Nbea |
T |
A |
3: 55,907,990 (GRCm39) |
H1374L |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,292,633 (GRCm39) |
I1095K |
probably benign |
Het |
Nolc1 |
A |
G |
19: 46,071,509 (GRCm39) |
|
probably benign |
Het |
Nr5a2 |
A |
G |
1: 136,887,976 (GRCm39) |
L18P |
probably benign |
Het |
Nup188 |
G |
T |
2: 30,212,199 (GRCm39) |
C562F |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,971,597 (GRCm39) |
V2415A |
probably damaging |
Het |
Pacsin2 |
A |
T |
15: 83,263,879 (GRCm39) |
|
probably null |
Het |
Pias3 |
A |
G |
3: 96,606,839 (GRCm39) |
H34R |
possibly damaging |
Het |
Ppfia2 |
T |
C |
10: 106,729,361 (GRCm39) |
V903A |
probably damaging |
Het |
Pramel1 |
T |
A |
4: 143,123,275 (GRCm39) |
L84Q |
probably damaging |
Het |
Pramel6 |
G |
A |
2: 87,339,782 (GRCm39) |
C182Y |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,743,896 (GRCm39) |
Y120H |
probably damaging |
Het |
Prss28 |
A |
G |
17: 25,530,331 (GRCm39) |
M212V |
probably benign |
Het |
Rbp3 |
G |
T |
14: 33,677,224 (GRCm39) |
G391* |
probably null |
Het |
Rc3h2 |
C |
T |
2: 37,301,151 (GRCm39) |
|
probably null |
Het |
Ret |
A |
G |
6: 118,150,582 (GRCm39) |
F645L |
probably benign |
Het |
Saxo5 |
T |
C |
8: 3,529,268 (GRCm39) |
L251P |
probably damaging |
Het |
Sgsm2 |
A |
G |
11: 74,755,995 (GRCm39) |
S402P |
possibly damaging |
Het |
Shc3 |
T |
A |
13: 51,636,915 (GRCm39) |
|
probably null |
Het |
Slc25a16 |
A |
G |
10: 62,776,938 (GRCm39) |
N246S |
probably benign |
Het |
Snrpd1 |
T |
A |
18: 10,623,694 (GRCm39) |
H26Q |
probably benign |
Het |
Thsd1 |
A |
G |
8: 22,733,363 (GRCm39) |
T137A |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,593,597 (GRCm39) |
H151L |
probably damaging |
Het |
Tns1 |
T |
A |
1: 73,957,209 (GRCm39) |
K1725N |
probably damaging |
Het |
Tomm40l |
T |
A |
1: 171,048,161 (GRCm39) |
T147S |
probably damaging |
Het |
Tomm6 |
G |
T |
17: 47,998,932 (GRCm39) |
|
probably benign |
Het |
Trp53 |
G |
A |
11: 69,480,440 (GRCm39) |
C272Y |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,649,214 (GRCm39) |
V1492E |
probably benign |
Het |
Tsen2 |
G |
A |
6: 115,536,592 (GRCm39) |
R116H |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,555,726 (GRCm39) |
F456S |
probably damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,836,279 (GRCm39) |
M199K |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,317,378 (GRCm39) |
C120Y |
probably damaging |
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 |
|
IGL02695:Ankfn1
|
APN |
11 |
89,282,645 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAACTAGTGGAGCTTGGG -3'
(R):5'- ACTGGGCTTCTTGGGAAAG -3'
Sequencing Primer
(F):5'- AGCTTGGGAGGCTGCTGC -3'
(R):5'- AGCACTATGGTGGCTTCAGC -3'
|
Posted On |
2018-05-21 |