Incidental Mutation 'R1595:Ankfn1'
| ID |
175746 |
| 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 |
039632-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R1595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 89313593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050983]
[ENSMUST00000128717]
[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 |
probably null
Transcript: ENSMUST00000128717
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
| 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 null
Transcript: ENSMUST00000128717
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
| 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 null
Transcript: ENSMUST00000169201
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
| 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 null
Transcript: ENSMUST00000207815
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208932
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| Abcb6 |
C |
T |
1: 75,153,944 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,633,164 (GRCm39) |
P556H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,578,821 (GRCm39) |
D914E |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,764 (GRCm39) |
V193A |
probably benign |
Het |
| Adm |
A |
T |
7: 110,228,298 (GRCm39) |
T160S |
probably damaging |
Het |
| Ammecr1l |
T |
C |
18: 31,905,173 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,748,129 (GRCm39) |
D377G |
probably damaging |
Het |
| Arhgap30 |
T |
G |
1: 171,235,909 (GRCm39) |
M761R |
probably benign |
Het |
| Asb4 |
T |
G |
6: 5,390,692 (GRCm39) |
N28K |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,444,389 (GRCm39) |
D696E |
probably benign |
Het |
| Cd200 |
G |
A |
16: 45,215,214 (GRCm39) |
T123I |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,497,604 (GRCm39) |
V50A |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,701,987 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
C |
2: 132,635,657 (GRCm39) |
D533A |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,509,536 (GRCm39) |
Y3041H |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,024,186 (GRCm39) |
N337D |
probably benign |
Het |
| Csad |
G |
A |
15: 102,086,217 (GRCm39) |
A51V |
probably damaging |
Het |
| Cstdc7 |
T |
C |
18: 42,306,454 (GRCm39) |
M7T |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,332 (GRCm39) |
Y380C |
possibly damaging |
Het |
| Dpysl2 |
G |
T |
14: 67,052,952 (GRCm39) |
A299E |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,440 (GRCm39) |
E189G |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,856,847 (GRCm39) |
I940T |
probably damaging |
Het |
| Etnk2 |
T |
G |
1: 133,300,917 (GRCm39) |
L228R |
possibly damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,610 (GRCm39) |
I201T |
probably benign |
Het |
| Foxo1 |
A |
T |
3: 52,253,375 (GRCm39) |
M513L |
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,637,410 (GRCm39) |
K379I |
probably damaging |
Het |
| Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
| Gtf2a1 |
T |
A |
12: 91,556,323 (GRCm39) |
N6Y |
probably damaging |
Het |
| Kcnc1 |
G |
A |
7: 46,077,010 (GRCm39) |
V271M |
probably benign |
Het |
| Klhdc8b |
T |
A |
9: 108,328,362 (GRCm39) |
D30V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,882,914 (GRCm39) |
Q448* |
probably null |
Het |
| Med29 |
T |
C |
7: 28,091,928 (GRCm39) |
D54G |
probably damaging |
Het |
| Mfn2 |
T |
C |
4: 147,979,153 (GRCm39) |
T60A |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,317,730 (GRCm39) |
|
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,628,453 (GRCm39) |
V149E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,602 (GRCm39) |
Y974N |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,402,096 (GRCm39) |
K1107N |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,783,166 (GRCm39) |
E81G |
probably benign |
Het |
| Or10al3 |
G |
T |
17: 38,012,004 (GRCm39) |
A148S |
probably benign |
Het |
| Or9e1 |
G |
T |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
| Osbpl5 |
C |
T |
7: 143,256,955 (GRCm39) |
V392M |
possibly damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,506 (GRCm39) |
V401E |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,762,672 (GRCm39) |
H1444Q |
probably damaging |
Het |
| Pdlim2 |
A |
G |
14: 70,402,193 (GRCm39) |
Y308H |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,988,752 (GRCm39) |
L664R |
possibly damaging |
Het |
| Phkb |
T |
C |
8: 86,753,182 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,721,420 (GRCm39) |
F98I |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,652,469 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,678,155 (GRCm39) |
H701L |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,550,774 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,729 (GRCm39) |
S373T |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,329,323 (GRCm39) |
Y769F |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,131 (GRCm39) |
I922V |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,205,531 (GRCm39) |
E90G |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,353 (GRCm39) |
T273I |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,831,675 (GRCm39) |
T350A |
probably benign |
Het |
| Socs5 |
T |
C |
17: 87,441,623 (GRCm39) |
C188R |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,723 (GRCm39) |
T45A |
probably benign |
Het |
| Th |
A |
G |
7: 142,450,745 (GRCm39) |
V117A |
probably benign |
Het |
| Thpo |
C |
A |
16: 20,547,206 (GRCm39) |
D81Y |
probably damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,385 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
A |
G |
3: 54,223,236 (GRCm39) |
E724G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,977 (GRCm39) |
T24639A |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 120,873,904 (GRCm39) |
S1176P |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,447 (GRCm39) |
D297G |
probably damaging |
Het |
| Vmn1r168 |
G |
A |
7: 23,240,620 (GRCm39) |
G159D |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,597 (GRCm39) |
N226I |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,208,574 (GRCm39) |
E57G |
probably benign |
Het |
| Zdhhc14 |
G |
T |
17: 5,543,831 (GRCm39) |
R37L |
probably benign |
Het |
| Zfp512b |
G |
A |
2: 181,230,229 (GRCm39) |
T499I |
probably damaging |
Het |
| Zmym2 |
A |
T |
14: 57,158,187 (GRCm39) |
K575N |
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 |
|
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'- CCTGTGAGTGGGGTCTGGAAAATTC -3'
(R):5'- ACCTATTGTTCAGAGGGGCAGGTG -3'
Sequencing Primer
(F):5'- GGTCTGGAAAATTCATAAGAGGTTG -3'
(R):5'- CGATTCAGGTTCTGGACATACAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation