Incidental Mutation 'R5458:Ankfn1'
| ID |
432891 |
| 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 |
043021-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R5458 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89325636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 512
(R512K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000128717
AA Change: R532K
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: R532K
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
136 |
167 |
2.47e2 |
SMART |
|
ANK
|
173 |
204 |
1.46e-2 |
SMART |
|
coiled coil region
|
205 |
236 |
N/A |
INTRINSIC |
|
FN3
|
271 |
356 |
1.66e-7 |
SMART |
|
low complexity region
|
586 |
597 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169201
AA Change: R512K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: R512K
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
116 |
147 |
2.47e2 |
SMART |
|
ANK
|
153 |
184 |
1.46e-2 |
SMART |
|
coiled coil region
|
185 |
216 |
N/A |
INTRINSIC |
|
FN3
|
251 |
336 |
1.66e-7 |
SMART |
|
low complexity region
|
566 |
577 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207815
AA Change: R466K
|
| Meta Mutation Damage Score |
0.0792 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (54/55) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
G |
6: 125,027,013 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,282,662 (GRCm39) |
D589G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,236,049 (GRCm39) |
L208Q |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,781,538 (GRCm39) |
S2197P |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,291,236 (GRCm39) |
N11D |
probably damaging |
Het |
| Aspg |
T |
C |
12: 112,086,436 (GRCm39) |
V230A |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,291,924 (GRCm39) |
Y709* |
probably null |
Het |
| Atp8b2 |
T |
C |
3: 89,853,329 (GRCm39) |
N748D |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,187,346 (GRCm39) |
V684A |
probably damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bcr |
T |
C |
10: 74,990,792 (GRCm39) |
V766A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,408,111 (GRCm39) |
N1404S |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,508 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,958,811 (GRCm39) |
D621G |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,625,725 (GRCm39) |
S307P |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,103,155 (GRCm39) |
M1345T |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,168 (GRCm39) |
T2697S |
probably damaging |
Het |
| Ephb4 |
T |
C |
5: 137,368,114 (GRCm39) |
V753A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,466,090 (GRCm39) |
Y1427H |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,814,980 (GRCm39) |
Q445R |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,726 (GRCm39) |
S431G |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,395 (GRCm39) |
R189S |
probably benign |
Het |
| Gnas |
A |
G |
2: 174,140,124 (GRCm39) |
I98V |
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,242,910 (GRCm39) |
N1086D |
possibly damaging |
Het |
| Lclat1 |
T |
C |
17: 73,546,914 (GRCm39) |
L277P |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,250,361 (GRCm39) |
I76T |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,258,201 (GRCm39) |
A510E |
probably damaging |
Het |
| Nlgn2 |
G |
T |
11: 69,718,726 (GRCm39) |
Q285K |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pax5 |
T |
C |
4: 44,679,526 (GRCm39) |
D172G |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,340,611 (GRCm39) |
V1115D |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,016,230 (GRCm39) |
S964G |
probably benign |
Het |
| Phip |
G |
T |
9: 82,808,553 (GRCm39) |
P474Q |
probably benign |
Het |
| Pop5 |
C |
T |
5: 115,378,496 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,913,933 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
C |
T |
12: 79,235,279 (GRCm39) |
A106T |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,339,975 (GRCm39) |
T642A |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,362,478 (GRCm39) |
|
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,377 (GRCm39) |
H80R |
possibly damaging |
Het |
| Spata16 |
A |
T |
3: 26,831,686 (GRCm39) |
N265I |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,818,446 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,663,476 (GRCm39) |
T135A |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,389 (GRCm39) |
V381A |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,237,496 (GRCm39) |
I184K |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,116,889 (GRCm39) |
V62M |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,448,919 (GRCm39) |
V225A |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,487,879 (GRCm39) |
P171L |
probably damaging |
Het |
| Wsb1 |
T |
C |
11: 79,139,262 (GRCm39) |
T75A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAATCGCAAATATCAGGAAATCG -3'
(R):5'- GCACATTTCTGCAGTCCCAC -3'
Sequencing Primer
(F):5'- GAGACTTCCTCTGGCTTT -3'
(R):5'- TCCCACCTACACTAAGTCTAAGTCTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation