Incidental Mutation 'R5412:Ankfn1'
ID |
427547 |
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 |
042981-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
R5412 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89396007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 246
(E246D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
|
AlphaFold |
A0A571BF63 |
Predicted Effect |
unknown
Transcript: ENSMUST00000128717
AA Change: E266D
|
SMART Domains |
Protein: ENSMUSP00000121290 Gene: ENSMUSG00000047773 AA Change: E266D
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: E246D
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132133 Gene: ENSMUSG00000047773 AA Change: E246D
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: E200D
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
A |
9: 55,886,036 (GRCm39) |
N36Y |
probably damaging |
Het |
Arid1a |
T |
C |
4: 133,446,913 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,653,522 (GRCm39) |
D300E |
probably benign |
Het |
C3 |
T |
C |
17: 57,527,187 (GRCm39) |
D754G |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,917,588 (GRCm39) |
Q240L |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,941,115 (GRCm39) |
P650S |
probably damaging |
Het |
Celsr2 |
G |
T |
3: 108,307,311 (GRCm39) |
S1933Y |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,764,709 (GRCm39) |
H562Q |
probably benign |
Het |
Cyp26a1 |
G |
T |
19: 37,689,630 (GRCm39) |
C442F |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,674,503 (GRCm39) |
S425G |
probably benign |
Het |
Espn |
C |
T |
4: 152,212,582 (GRCm39) |
V752M |
probably damaging |
Het |
Glyr1 |
A |
G |
16: 4,854,297 (GRCm39) |
S113P |
possibly damaging |
Het |
Grk4 |
A |
T |
5: 34,902,612 (GRCm39) |
Y388F |
probably benign |
Het |
H2-T15 |
C |
T |
17: 36,366,936 (GRCm39) |
C369Y |
probably benign |
Het |
Heca |
C |
A |
10: 17,778,044 (GRCm39) |
V518F |
probably damaging |
Het |
Hmcn2 |
C |
T |
2: 31,236,629 (GRCm39) |
P391S |
possibly damaging |
Het |
Hnrnpl |
A |
G |
7: 28,510,529 (GRCm39) |
|
probably benign |
Het |
Hsd3b2 |
A |
G |
3: 98,619,208 (GRCm39) |
S246P |
possibly damaging |
Het |
Ifna11 |
C |
T |
4: 88,738,380 (GRCm39) |
P62L |
probably damaging |
Het |
Katnal2 |
A |
T |
18: 77,090,131 (GRCm39) |
V292D |
probably damaging |
Het |
Krt16 |
T |
A |
11: 100,137,593 (GRCm39) |
I371F |
probably damaging |
Het |
Ly6g2 |
A |
T |
15: 75,089,669 (GRCm39) |
E59V |
probably damaging |
Het |
Map10 |
A |
T |
8: 126,397,724 (GRCm39) |
L372F |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,324,219 (GRCm39) |
M87L |
probably damaging |
Het |
Ncoa6 |
T |
C |
2: 155,249,701 (GRCm39) |
H1201R |
possibly damaging |
Het |
Ndc80 |
C |
A |
17: 71,821,226 (GRCm39) |
D241Y |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,205,508 (GRCm39) |
M94V |
possibly damaging |
Het |
Nkx2-6 |
G |
T |
14: 69,412,195 (GRCm39) |
R121L |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or6a2 |
A |
G |
7: 106,600,842 (GRCm39) |
V75A |
probably damaging |
Het |
Otop1 |
A |
G |
5: 38,455,328 (GRCm39) |
I241V |
probably benign |
Het |
Panx2 |
C |
A |
15: 88,953,135 (GRCm39) |
P542H |
possibly damaging |
Het |
Pcdha5 |
C |
A |
18: 37,095,510 (GRCm39) |
P673Q |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
Prdx6 |
A |
T |
1: 161,071,860 (GRCm39) |
I102N |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,262,140 (GRCm39) |
I725F |
possibly damaging |
Het |
Selenon |
T |
C |
4: 134,269,749 (GRCm39) |
N395S |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,533,616 (GRCm39) |
E224K |
probably benign |
Het |
Serpinb9b |
A |
G |
13: 33,213,496 (GRCm39) |
M18V |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,335,400 (GRCm39) |
E318G |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,294,549 (GRCm39) |
Y786N |
probably damaging |
Het |
Stk36 |
G |
T |
1: 74,644,615 (GRCm39) |
|
probably null |
Het |
Stpg1 |
T |
A |
4: 135,252,786 (GRCm39) |
L179Q |
possibly damaging |
Het |
Stra8 |
G |
A |
6: 34,907,885 (GRCm39) |
M1I |
probably null |
Het |
Tiam1 |
G |
T |
16: 89,681,753 (GRCm39) |
H408Q |
possibly damaging |
Het |
Tm2d1 |
G |
A |
4: 98,253,855 (GRCm39) |
T106I |
probably damaging |
Het |
Tmem150b |
A |
C |
7: 4,719,368 (GRCm39) |
I184S |
probably null |
Het |
Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,533,531 (GRCm39) |
A868T |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,341,620 (GRCm39) |
D1216N |
probably null |
Het |
Zfp26 |
T |
C |
9: 20,349,535 (GRCm39) |
Y343C |
possibly damaging |
Het |
Zfp276 |
A |
T |
8: 123,982,520 (GRCm39) |
I95F |
probably damaging |
Het |
Zfp330 |
T |
C |
8: 83,490,865 (GRCm39) |
E315G |
probably benign |
Het |
Zfp683 |
C |
A |
4: 133,781,862 (GRCm39) |
P56Q |
probably damaging |
Het |
Zpld1 |
T |
A |
16: 55,052,646 (GRCm39) |
S323C |
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 |
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'- TGGCCAGAGAACCAATCAGG -3'
(R):5'- AGGAGAGCTGTCATCCTGTC -3'
Sequencing Primer
(F):5'- TCAGGAGCCAGAAAGTCAAGC -3'
(R):5'- AGGAGAGCTGTCATCCTGTCTATTC -3'
|
Posted On |
2016-09-01 |