Incidental Mutation 'R8242:Ankfn1'
| ID |
637617 |
| 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 |
067647-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R8242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to G
at 89417271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
[ENSMUST00000207350]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000128717
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
| 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 null
Transcript: ENSMUST00000169201
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
| 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 |
probably benign
Transcript: ENSMUST00000207350
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207815
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.2%
|
| Validation Efficiency |
98% (42/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,374,118 (GRCm39) |
Y736H |
possibly damaging |
Het |
| Akr1c12 |
G |
A |
13: 4,322,269 (GRCm39) |
R258* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,505,824 (GRCm39) |
K947E |
probably benign |
Het |
| Barx2 |
C |
A |
9: 31,824,227 (GRCm39) |
R54L |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcl11a |
T |
A |
11: 24,113,208 (GRCm39) |
F184I |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,411,914 (GRCm39) |
D515E |
possibly damaging |
Het |
| Cfap43 |
A |
G |
19: 47,885,808 (GRCm39) |
L269P |
probably damaging |
Het |
| Col8a1 |
G |
T |
16: 57,452,721 (GRCm39) |
P94Q |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,806 (GRCm39) |
V12A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,760,670 (GRCm39) |
V155A |
probably benign |
Het |
| Defb22 |
A |
C |
2: 152,328,007 (GRCm39) |
C59W |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,669,980 (GRCm39) |
T665A |
possibly damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,708 (GRCm39) |
D62G |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,038,821 (GRCm39) |
S987N |
unknown |
Het |
| Gm5591 |
T |
A |
7: 38,219,746 (GRCm39) |
T376S |
probably benign |
Het |
| Hps3 |
C |
T |
3: 20,068,290 (GRCm39) |
R588H |
possibly damaging |
Het |
| Itpr1 |
A |
T |
6: 108,363,658 (GRCm39) |
D760V |
probably benign |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,938,522 (GRCm39) |
R270S |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,488,157 (GRCm39) |
H350N |
possibly damaging |
Het |
| Nsd3 |
G |
T |
8: 26,196,567 (GRCm39) |
E1183* |
probably null |
Het |
| Or13a19 |
T |
A |
7: 139,902,696 (GRCm39) |
L28* |
probably null |
Het |
| Or4p7 |
A |
G |
2: 88,222,418 (GRCm39) |
I276V |
possibly damaging |
Het |
| Or51f23b |
T |
C |
7: 102,402,306 (GRCm39) |
M277V |
probably benign |
Het |
| Or8k53 |
A |
T |
2: 86,177,426 (GRCm39) |
M228K |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,060,184 (GRCm39) |
T196S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,666,834 (GRCm39) |
V1121A |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,954,050 (GRCm39) |
S41T |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,280,712 (GRCm39) |
N293K |
probably damaging |
Het |
| Rgs3 |
C |
A |
4: 62,538,022 (GRCm39) |
Q18K |
probably benign |
Het |
| Ripk2 |
C |
T |
4: 16,124,430 (GRCm39) |
G426D |
probably benign |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,914 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sntb1 |
C |
T |
15: 55,655,629 (GRCm39) |
A196T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,821 (GRCm39) |
E409G |
probably damaging |
Het |
| Timm50 |
A |
T |
7: 28,007,836 (GRCm39) |
D105E |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,846,182 (GRCm39) |
S315T |
probably benign |
Het |
| Ttpa |
G |
A |
4: 20,028,511 (GRCm39) |
C256Y |
probably damaging |
Het |
| Vinac1 |
G |
T |
2: 128,881,313 (GRCm39) |
C204* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,872 (GRCm39) |
Y139C |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,971 (GRCm39) |
S803P |
probably damaging |
Het |
| Zfp985 |
A |
C |
4: 147,668,639 (GRCm39) |
K502N |
possibly 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 |
|
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 |
|
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'- AAGTCCACACCTCTGTGCTC -3'
(R):5'- GCAGAACTTACATCTTTCCCAG -3'
Sequencing Primer
(F):5'- GGGGAAAGGTCTTCAATTCATCC -3'
(R):5'- CACTCGTCCTTTGATGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation