Incidental Mutation 'R9129:Ankfn1'
| ID |
693489 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R9129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89312042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 701
(L701P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050983]
[ENSMUST00000128717]
[ENSMUST00000169201]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050983
|
| SMART Domains |
Protein: ENSMUSP00000049776
Gene: ENSMUSG00000047773
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: L721P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: L701P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,523,223 (GRCm39) |
S1238P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,119,089 (GRCm39) |
L3532S |
probably benign |
Het |
| Aph1b |
A |
C |
9: 66,686,595 (GRCm39) |
I225S |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,469 (GRCm39) |
H337L |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,517,205 (GRCm39) |
M376T |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,976,220 (GRCm39) |
T1698K |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,313,415 (GRCm39) |
|
probably null |
Het |
| Catsper1 |
C |
A |
19: 5,390,402 (GRCm39) |
|
probably benign |
Het |
| Cd248 |
T |
C |
19: 5,120,140 (GRCm39) |
S663P |
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,737,488 (GRCm39) |
M80L |
possibly damaging |
Het |
| Cwc22 |
G |
A |
2: 77,726,659 (GRCm39) |
Q807* |
probably null |
Het |
| Cyp2a4 |
T |
C |
7: 26,014,136 (GRCm39) |
Y438H |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,381,189 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,377,126 (GRCm39) |
V1637D |
probably benign |
Het |
| Elovl1 |
A |
T |
4: 118,289,156 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Ern1 |
T |
C |
11: 106,300,946 (GRCm39) |
K483E |
probably benign |
Het |
| Fzd2 |
T |
C |
11: 102,496,465 (GRCm39) |
F303S |
probably benign |
Het |
| Gm9944 |
A |
T |
4: 144,179,763 (GRCm39) |
V42D |
unknown |
Het |
| Grik5 |
G |
A |
7: 24,767,429 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hinfp |
C |
T |
9: 44,209,062 (GRCm39) |
R352H |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,231,277 (GRCm39) |
H505R |
unknown |
Het |
| Hsfy2 |
C |
T |
1: 56,675,752 (GRCm39) |
D262N |
probably benign |
Het |
| Hspa4 |
G |
A |
11: 53,174,463 (GRCm39) |
Q186* |
probably null |
Het |
| Ipo8 |
T |
C |
6: 148,700,125 (GRCm39) |
H584R |
probably benign |
Het |
| Krtap8-1 |
T |
A |
16: 89,284,636 (GRCm39) |
R54* |
probably null |
Het |
| Lama4 |
T |
A |
10: 38,932,887 (GRCm39) |
Y588N |
probably benign |
Het |
| Lekr1 |
T |
A |
3: 65,591,426 (GRCm39) |
Y54* |
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,170 (GRCm39) |
D163G |
probably benign |
Het |
| Lzts3 |
A |
T |
2: 130,476,865 (GRCm39) |
Y528N |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,812 (GRCm39) |
V628E |
probably benign |
Het |
| Mgat5b |
A |
C |
11: 116,859,348 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Mllt10 |
C |
T |
2: 18,167,404 (GRCm39) |
S443L |
probably benign |
Het |
| Mtf1 |
G |
A |
4: 124,698,913 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,154,068 (GRCm39) |
F669L |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,428 (GRCm39) |
|
probably null |
Het |
| Nog |
G |
C |
11: 89,192,602 (GRCm39) |
S82W |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,276,084 (GRCm39) |
T795A |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,930 (GRCm39) |
F100S |
probably damaging |
Het |
| Or56a3b |
G |
A |
7: 104,771,223 (GRCm39) |
M186I |
probably benign |
Het |
| Or5m3 |
A |
T |
2: 85,838,356 (GRCm39) |
M79L |
|
Het |
| Or5w17 |
A |
T |
2: 87,584,048 (GRCm39) |
F96L |
probably benign |
Het |
| Pira12 |
C |
A |
7: 3,898,500 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,064 (GRCm39) |
I144L |
|
Het |
| Rab11fip5 |
A |
G |
6: 85,317,892 (GRCm39) |
V999A |
probably benign |
Het |
| Serpinb6b |
TTGTTTCTGT |
TTGT |
13: 33,162,139 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
A |
G |
11: 66,110,853 (GRCm39) |
M296T |
probably benign |
Het |
| Slc18a1 |
T |
A |
8: 69,491,533 (GRCm39) |
T494S |
probably benign |
Het |
| Slc22a29 |
T |
G |
19: 8,146,669 (GRCm39) |
I378L |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,920,332 (GRCm39) |
|
probably null |
Het |
| Slc2a7 |
G |
T |
4: 150,243,001 (GRCm39) |
R274L |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,058,911 (GRCm39) |
T1949A |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,866 (GRCm39) |
V3339A |
unknown |
Het |
| Tcp10a |
G |
A |
17: 7,593,935 (GRCm39) |
D87N |
probably benign |
Het |
| Tgm5 |
T |
G |
2: 120,877,270 (GRCm39) |
Q638P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,265 (GRCm39) |
T460A |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,185,208 (GRCm39) |
M50L |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,854,629 (GRCm39) |
S708P |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,876 (GRCm39) |
T9S |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,373 (GRCm39) |
Y272C |
|
Het |
| Vmn1r75 |
G |
T |
7: 11,614,513 (GRCm39) |
A82S |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,678,918 (GRCm39) |
R769* |
probably null |
Het |
| Vps13b |
C |
A |
15: 35,448,793 (GRCm39) |
A589E |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,898,249 (GRCm39) |
R304W |
|
Het |
| Vps41 |
A |
G |
13: 19,011,775 (GRCm39) |
E294G |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,909,113 (GRCm39) |
T802A |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,104,052 (GRCm39) |
D2022E |
|
Het |
| Zfp433 |
T |
A |
10: 81,555,724 (GRCm39) |
C75* |
probably null |
Het |
| Zyg11a |
A |
T |
4: 108,039,009 (GRCm39) |
S737T |
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 |
|
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 |
|
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'- TGATTTACTGACCCTCCACTGG -3'
(R):5'- GAGTTTATGTGGAACATTACTGCC -3'
Sequencing Primer
(F):5'- GGGGGAACAGATATCACTTTGTG -3'
(R):5'- AGCATTATTAAATGGGCTGAACC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation