Incidental Mutation 'IGL02519:Ankfn1'
| ID |
296879 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankfn1
|
| Ensembl Gene |
ENSMUSG00000047773 |
| Gene Name |
ankyrin-repeat and fibronectin type III domain containing 1 |
| Synonyms |
LOC382543, 4932411E22Rik, nmf9, mWAKE |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
IGL02519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89296504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 75
(E75G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050983]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050983
AA Change: E75G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049776
Gene: ENSMUSG00000047773
AA Change: E75G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207815
AA Change: E754G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208932
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,868,687 (GRCm39) |
I224F |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,774,721 (GRCm39) |
T947A |
possibly damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,279,893 (GRCm39) |
H225N |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,050,139 (GRCm39) |
S341G |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,389,665 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,949,464 (GRCm39) |
E370G |
probably damaging |
Het |
| Cacna1i |
C |
T |
15: 80,246,075 (GRCm39) |
R490* |
probably null |
Het |
| Cd33 |
C |
T |
7: 43,178,153 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,758,112 (GRCm39) |
I135V |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,919,457 (GRCm39) |
N795K |
possibly damaging |
Het |
| Dhps |
A |
G |
8: 85,799,928 (GRCm39) |
D126G |
probably damaging |
Het |
| Dlg2 |
G |
T |
7: 91,589,323 (GRCm39) |
V196L |
possibly damaging |
Het |
| Dsg1c |
T |
A |
18: 20,416,790 (GRCm39) |
I897N |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,748,759 (GRCm39) |
L1059S |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Fgf17 |
A |
G |
14: 70,875,968 (GRCm39) |
I88T |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,214,383 (GRCm39) |
V137A |
possibly damaging |
Het |
| Gnal |
G |
A |
18: 67,221,836 (GRCm39) |
E80K |
unknown |
Het |
| Hectd1 |
T |
G |
12: 51,815,894 (GRCm39) |
S1393R |
probably damaging |
Het |
| Igsf6 |
T |
C |
7: 120,667,496 (GRCm39) |
I173M |
possibly damaging |
Het |
| Il2ra |
A |
C |
2: 11,687,901 (GRCm39) |
E227A |
possibly damaging |
Het |
| Iqcf6 |
C |
T |
9: 106,504,479 (GRCm39) |
R48C |
probably damaging |
Het |
| Kdm3a |
G |
T |
6: 71,588,570 (GRCm39) |
Q480K |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
| Magea6 |
T |
C |
X: 153,707,741 (GRCm39) |
D105G |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,673,197 (GRCm39) |
|
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,984,789 (GRCm39) |
F272I |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
| Pgghg |
A |
G |
7: 140,524,894 (GRCm39) |
T352A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,382,184 (GRCm39) |
S1464P |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,461,762 (GRCm39) |
T3609N |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,908,587 (GRCm39) |
Y533* |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,540,932 (GRCm39) |
S346G |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,442,863 (GRCm39) |
L261Q |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,976,134 (GRCm39) |
T493S |
possibly damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,454,164 (GRCm39) |
C214S |
probably damaging |
Het |
| Trim16 |
A |
T |
11: 62,724,905 (GRCm39) |
E144V |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,359 (GRCm39) |
Y356C |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,667,745 (GRCm39) |
F198I |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,320 (GRCm39) |
I726V |
possibly damaging |
Het |
| Zzz3 |
A |
T |
3: 152,133,027 (GRCm39) |
E28D |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation