Incidental Mutation 'R9062:Ankfn1'
| ID |
689043 |
| 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 |
068888-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R9062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 89325583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 530
(I530L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: I550L
| 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: I530L
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: I530L
| 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 |
|
| Meta Mutation Damage Score |
0.0709 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
A |
G |
2: 91,740,662 (GRCm39) |
E1047G |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,058,046 (GRCm39) |
Y2176F |
possibly damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,866,459 (GRCm39) |
R171* |
probably null |
Het |
| Atxn10 |
T |
C |
15: 85,275,918 (GRCm39) |
V325A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,890 (GRCm39) |
Y202H |
|
Het |
| Calhm1 |
A |
T |
19: 47,129,828 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cel |
C |
A |
2: 28,451,214 (GRCm39) |
V48F |
probably benign |
Het |
| Cep78 |
T |
A |
19: 15,956,318 (GRCm39) |
Y207F |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,434,100 (GRCm39) |
|
probably null |
Het |
| Cpeb2 |
C |
A |
5: 43,391,171 (GRCm39) |
N122K |
|
Het |
| Cyth1 |
T |
C |
11: 118,023,142 (GRCm39) |
Q432R |
unknown |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,548 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,928 (GRCm39) |
T76A |
probably benign |
Het |
| Etfrf1 |
A |
T |
6: 145,161,153 (GRCm39) |
N41I |
probably damaging |
Het |
| Etl4 |
T |
G |
2: 20,748,616 (GRCm39) |
L318R |
probably damaging |
Het |
| Fam151a |
G |
T |
4: 106,605,306 (GRCm39) |
W556L |
probably benign |
Het |
| Gas2l1 |
A |
G |
11: 5,011,497 (GRCm39) |
V444A |
probably benign |
Het |
| Gbp8 |
A |
G |
5: 105,179,124 (GRCm39) |
I125T |
possibly damaging |
Het |
| Jrkl |
A |
G |
9: 13,245,338 (GRCm39) |
F108L |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,941,536 (GRCm39) |
D980E |
possibly damaging |
Het |
| Leng9 |
C |
T |
7: 4,151,666 (GRCm39) |
A337T |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,757,714 (GRCm39) |
C252G |
probably damaging |
Het |
| Lrp4 |
C |
A |
2: 91,303,925 (GRCm39) |
D113E |
possibly damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,527 (GRCm39) |
Y265C |
probably damaging |
Het |
| Mios |
A |
T |
6: 8,233,221 (GRCm39) |
I790F |
probably benign |
Het |
| Mlf2 |
G |
A |
6: 124,911,334 (GRCm39) |
|
silent |
Het |
| Mycbp2 |
T |
A |
14: 103,479,796 (GRCm39) |
Y1226F |
probably benign |
Het |
| Ncoa6 |
T |
A |
2: 155,263,348 (GRCm39) |
Q362L |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,341,692 (GRCm39) |
D2020G |
possibly damaging |
Het |
| Or4a73 |
T |
C |
2: 89,420,923 (GRCm39) |
M179V |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,843,548 (GRCm39) |
T287S |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,155 (GRCm39) |
I110L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,421 (GRCm39) |
I150F |
probably benign |
Het |
| Otop2 |
C |
A |
11: 115,214,465 (GRCm39) |
A74E |
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,843,954 (GRCm39) |
I579T |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,116,196 (GRCm39) |
V137A |
probably benign |
Het |
| Psap |
G |
T |
10: 60,131,738 (GRCm39) |
V244L |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,900,266 (GRCm39) |
S1134P |
probably benign |
Het |
| Skp2 |
G |
T |
15: 9,113,821 (GRCm39) |
P399Q |
probably damaging |
Het |
| Slc47a1 |
T |
G |
11: 61,253,924 (GRCm39) |
I222L |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,945 (GRCm39) |
W2022R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,601,717 (GRCm39) |
L1515S |
unknown |
Het |
| Sri |
T |
C |
5: 8,106,625 (GRCm39) |
Y13H |
unknown |
Het |
| Tcf25 |
T |
C |
8: 124,116,448 (GRCm39) |
F248L |
|
Het |
| Tdrd12 |
T |
C |
7: 35,179,694 (GRCm39) |
T885A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,600,944 (GRCm39) |
T18813A |
probably damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,740 (GRCm39) |
V441A |
possibly damaging |
Het |
| Vwa1 |
A |
T |
4: 155,854,820 (GRCm39) |
S405T |
probably benign |
Het |
| Zbbx |
A |
T |
3: 74,989,124 (GRCm39) |
H326Q |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,747 (GRCm39) |
T622A |
probably benign |
Het |
| Zfp677 |
T |
G |
17: 21,612,815 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GATGCCATAAATGTATCAGAATCGC -3'
(R):5'- GCACATTTCTGCAGTCCCAC -3'
Sequencing Primer
(F):5'- TCAGAATCGCAAATATCAGGAAATCG -3'
(R):5'- TCCCACCTACACTAAGTCTAAGTCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation