Incidental Mutation 'R5434:Ankfn1'
ID |
428222 |
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 |
042999-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
R5434 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89344013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 323
(Y323C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
|
AlphaFold |
A0A571BF63 |
Predicted Effect |
unknown
Transcript: ENSMUST00000128717
AA Change: Y343C
|
SMART Domains |
Protein: ENSMUSP00000121290 Gene: ENSMUSG00000047773 AA Change: Y343C
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: Y323C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132133 Gene: ENSMUSG00000047773 AA Change: Y323C
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: Y277C
|
Meta Mutation Damage Score |
0.4885 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (57/57) |
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 |
Angptl6 |
G |
T |
9: 20,786,821 (GRCm39) |
Q301K |
probably damaging |
Het |
Arid5b |
T |
A |
10: 67,932,719 (GRCm39) |
H818L |
possibly damaging |
Het |
Atg13 |
G |
T |
2: 91,515,110 (GRCm39) |
|
probably null |
Het |
Bltp1 |
A |
C |
3: 36,929,665 (GRCm39) |
D94A |
probably damaging |
Het |
Bop1 |
T |
C |
15: 76,339,611 (GRCm39) |
M245V |
probably benign |
Het |
Ces2a |
T |
A |
8: 105,464,041 (GRCm39) |
F224L |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 99,999,926 (GRCm39) |
H228R |
probably benign |
Het |
Col9a2 |
A |
T |
4: 120,898,162 (GRCm39) |
R25* |
probably null |
Het |
Dcaf12 |
G |
T |
4: 41,302,744 (GRCm39) |
T137N |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,729,693 (GRCm39) |
N765S |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,581,256 (GRCm39) |
Y3162C |
probably damaging |
Het |
Dpf1 |
G |
T |
7: 29,010,756 (GRCm39) |
C123F |
possibly damaging |
Het |
Flvcr1 |
C |
A |
1: 190,758,206 (GRCm39) |
A29S |
probably benign |
Het |
Frmd3 |
A |
T |
4: 74,106,033 (GRCm39) |
I560F |
probably damaging |
Het |
Galnt15 |
G |
A |
14: 31,771,800 (GRCm39) |
V282I |
possibly damaging |
Het |
Gm14412 |
A |
T |
2: 177,006,405 (GRCm39) |
C497S |
probably damaging |
Het |
Gm20830 |
A |
T |
Y: 6,916,464 (GRCm39) |
Y218* |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,310,375 (GRCm39) |
T3323N |
probably damaging |
Het |
Idh1 |
T |
A |
1: 65,214,495 (GRCm39) |
Q6L |
probably benign |
Het |
Kansl2-ps |
A |
G |
7: 72,322,813 (GRCm39) |
|
noncoding transcript |
Het |
Kcnj10 |
T |
A |
1: 172,197,047 (GRCm39) |
V187E |
probably damaging |
Het |
Khnyn |
A |
G |
14: 56,124,957 (GRCm39) |
T404A |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,660,880 (GRCm39) |
N76I |
probably damaging |
Het |
Lrrc9 |
G |
A |
12: 72,500,862 (GRCm39) |
C196Y |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mgp |
T |
A |
6: 136,849,772 (GRCm39) |
N62I |
probably benign |
Het |
Ms4a6c |
T |
A |
19: 11,448,588 (GRCm39) |
H40Q |
probably benign |
Het |
Necab3 |
A |
G |
2: 154,389,379 (GRCm39) |
S121P |
probably damaging |
Het |
Nfkb1 |
T |
A |
3: 135,332,372 (GRCm39) |
K128* |
probably null |
Het |
Nr4a3 |
A |
T |
4: 48,067,861 (GRCm39) |
R486W |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,964,991 (GRCm39) |
K1525R |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,222,550 (GRCm39) |
K573R |
probably benign |
Het |
Pbrm1 |
G |
T |
14: 30,806,968 (GRCm39) |
D1085Y |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rbm15 |
A |
G |
3: 107,237,783 (GRCm39) |
S872P |
possibly damaging |
Het |
Retsat |
A |
G |
6: 72,578,518 (GRCm39) |
I77V |
probably damaging |
Het |
Rpl32 |
A |
G |
6: 115,783,996 (GRCm39) |
F77L |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,624,814 (GRCm39) |
V2202D |
probably damaging |
Het |
Sars2 |
G |
A |
7: 28,449,716 (GRCm39) |
R387Q |
probably null |
Het |
Serpinb3d |
G |
T |
1: 107,006,263 (GRCm39) |
T275N |
probably benign |
Het |
Sf3a1 |
C |
A |
11: 4,124,041 (GRCm39) |
P296Q |
probably damaging |
Het |
Sh3bgr |
A |
G |
16: 96,025,744 (GRCm39) |
|
probably benign |
Het |
St3gal3 |
A |
G |
4: 117,797,247 (GRCm39) |
L332P |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,952,739 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,018,649 (GRCm39) |
S3383T |
probably damaging |
Het |
Tektl1 |
A |
T |
10: 78,584,484 (GRCm39) |
L346* |
probably null |
Het |
Tnfsf14 |
A |
G |
17: 57,499,592 (GRCm39) |
S87P |
probably benign |
Het |
Trap1 |
T |
C |
16: 3,862,529 (GRCm39) |
D583G |
probably benign |
Het |
Ube3d |
A |
T |
9: 86,309,460 (GRCm39) |
I212N |
possibly damaging |
Het |
Usp34 |
T |
A |
11: 23,362,271 (GRCm39) |
D1572E |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,387 (GRCm39) |
T193S |
probably benign |
Het |
Vmn2r111 |
C |
A |
17: 22,767,470 (GRCm39) |
V676L |
probably damaging |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Wls |
C |
T |
3: 159,639,976 (GRCm39) |
R536C |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,519,031 (GRCm39) |
D51G |
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 |
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'- ATTAGTCTTCTGTGGCCCAGC -3'
(R):5'- TTAGTGTGTCAAAGTAGGGAGGATC -3'
Sequencing Primer
(F):5'- TTCTGTGGCCCAGCTGCTG -3'
(R):5'- CATGCATATGTGTGTATACATTTGTG -3'
|
Posted On |
2016-09-01 |