Incidental Mutation 'R1534:Ankfn1'
| ID |
166838 |
| 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 |
039573-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R1534 (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 89413977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 133
(V133M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
[ENSMUST00000207350]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000128717
AA Change: V153M
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: V153M
| 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 damaging
Transcript: ENSMUST00000169201
AA Change: V133M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: V133M
| 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 |
unknown
Transcript: ENSMUST00000207815
AA Change: V87M
|
| Meta Mutation Damage Score |
0.2320 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,345,881 (GRCm39) |
I310T |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,073,629 (GRCm39) |
V469A |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,261,141 (GRCm39) |
C652Y |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,706,757 (GRCm39) |
T448A |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,669 (GRCm39) |
H233R |
probably damaging |
Het |
| Bpifb5 |
T |
G |
2: 154,071,419 (GRCm39) |
Y249D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,573,866 (GRCm39) |
I1078V |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,726,083 (GRCm39) |
E3104G |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,839,593 (GRCm39) |
K343N |
probably benign |
Het |
| Cyp4f18 |
T |
A |
8: 72,746,799 (GRCm39) |
D331V |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,378 (GRCm39) |
V261A |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,247 (GRCm39) |
D391G |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,944,238 (GRCm39) |
F1044L |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,057 (GRCm39) |
T52S |
probably benign |
Het |
| Gan |
G |
A |
8: 117,914,168 (GRCm39) |
V189I |
probably benign |
Het |
| Hnf1b |
A |
G |
11: 83,784,409 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,036,431 (GRCm39) |
I1123T |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lrrc18 |
A |
G |
14: 32,730,478 (GRCm39) |
K6E |
possibly damaging |
Het |
| Map2 |
G |
A |
1: 66,452,339 (GRCm39) |
V492I |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,250,430 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,269,330 (GRCm39) |
A689E |
possibly damaging |
Het |
| Or52n2c |
G |
A |
7: 104,574,621 (GRCm39) |
L117F |
possibly damaging |
Het |
| Or5w22 |
T |
A |
2: 87,363,016 (GRCm39) |
V213D |
probably damaging |
Het |
| Palm |
T |
G |
10: 79,652,737 (GRCm39) |
V42G |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,740,738 (GRCm39) |
V995I |
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,574 (GRCm39) |
V215A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,142,420 (GRCm39) |
Y238C |
probably damaging |
Het |
| Prr14 |
C |
T |
7: 127,073,154 (GRCm39) |
A167V |
probably benign |
Het |
| Ptprn |
A |
C |
1: 75,234,587 (GRCm39) |
|
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,380,190 (GRCm39) |
I214N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,830,233 (GRCm39) |
S645P |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,987,392 (GRCm39) |
C64* |
probably null |
Het |
| Sez6 |
A |
G |
11: 77,853,871 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,729 (GRCm39) |
I585T |
probably damaging |
Het |
| Spg11 |
G |
A |
2: 121,922,806 (GRCm39) |
T881M |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,664,396 (GRCm39) |
|
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,923 (GRCm39) |
W126R |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,556,152 (GRCm39) |
I537T |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,138 (GRCm39) |
S33G |
probably benign |
Het |
| Tspan11 |
G |
C |
6: 127,926,768 (GRCm39) |
V239L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,155,462 (GRCm39) |
V2190A |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,896,806 (GRCm39) |
D9G |
possibly damaging |
Het |
| Uty |
A |
G |
Y: 1,245,440 (GRCm39) |
V35A |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,954 (GRCm39) |
S771P |
probably benign |
Het |
| Wars2 |
C |
T |
3: 99,124,177 (GRCm39) |
A346V |
probably damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,229,854 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp142 |
G |
T |
1: 74,611,247 (GRCm39) |
N849K |
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,800,948 (GRCm39) |
N66I |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTTACTCACAGTGCGGACTTTC -3'
(R):5'- ACAAGGAGCTGATTTTCCCACCAAC -3'
Sequencing Primer
(F):5'- ACAGTGCGGACTTTCTCTGG -3'
(R):5'- GCTGACAGAGTGCTGACTTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation