Incidental Mutation 'R7572:Ankfn1'
| ID |
586094 |
| 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 |
045658-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R7572 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89312097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 683
(N683D)
|
| 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: N703D
| 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: N683D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: N683D
| 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: 99.1%
|
| Validation Efficiency |
95% (56/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,128 (GRCm39) |
T57S |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,629 (GRCm39) |
Y670H |
possibly damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,396,343 (GRCm39) |
I185F |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Chrna5 |
T |
A |
9: 54,913,749 (GRCm39) |
W432R |
probably damaging |
Het |
| Chrng |
T |
A |
1: 87,136,836 (GRCm39) |
L235Q |
probably damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,631 (GRCm39) |
C97* |
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,764,745 (GRCm39) |
H340N |
probably damaging |
Het |
| Dmtn |
A |
T |
14: 70,842,777 (GRCm39) |
M328K |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,806,506 (GRCm39) |
V413E |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,431,443 (GRCm39) |
L487* |
probably null |
Het |
| Esco2 |
A |
G |
14: 66,068,641 (GRCm39) |
V223A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,245,739 (GRCm39) |
D1139E |
possibly damaging |
Het |
| Gemin4 |
A |
G |
11: 76,104,408 (GRCm39) |
S118P |
probably damaging |
Het |
| Gm3604 |
A |
G |
13: 62,518,060 (GRCm39) |
I79T |
probably damaging |
Het |
| Gpatch3 |
T |
C |
4: 133,302,117 (GRCm39) |
V16A |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,731,063 (GRCm39) |
N90S |
unknown |
Het |
| Hr |
C |
T |
14: 70,799,293 (GRCm39) |
H593Y |
possibly damaging |
Het |
| Igkv4-50 |
A |
G |
6: 69,677,951 (GRCm39) |
V51A |
probably damaging |
Het |
| Insr |
C |
A |
8: 3,223,602 (GRCm39) |
V844F |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,075 (GRCm39) |
S423P |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,563 (GRCm39) |
I162V |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurog2 |
A |
G |
3: 127,427,550 (GRCm39) |
E58G |
probably damaging |
Het |
| Or4x6 |
T |
C |
2: 89,949,087 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,793 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e174 |
T |
G |
9: 20,012,154 (GRCm39) |
L33W |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,800,248 (GRCm39) |
M300K |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,648,105 (GRCm39) |
D422G |
possibly damaging |
Het |
| Prox1 |
T |
C |
1: 189,855,583 (GRCm39) |
E683G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,056,704 (GRCm39) |
D1305G |
probably damaging |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rex2 |
T |
G |
4: 147,142,329 (GRCm39) |
I272M |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,014 (GRCm39) |
S12P |
possibly damaging |
Het |
| Samd15 |
C |
A |
12: 87,248,350 (GRCm39) |
P345Q |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,673,574 (GRCm39) |
I804N |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,891,667 (GRCm39) |
R165H |
possibly damaging |
Het |
| Slc22a30 |
T |
G |
19: 8,313,072 (GRCm39) |
M467L |
unknown |
Het |
| Slc2a5 |
T |
C |
4: 150,226,642 (GRCm39) |
I368T |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,749,200 (GRCm39) |
|
probably null |
Het |
| Snap91 |
T |
C |
9: 86,688,547 (GRCm39) |
T331A |
possibly damaging |
Het |
| Soat2 |
G |
T |
15: 102,062,456 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
C |
A |
7: 27,071,697 (GRCm39) |
R1589L |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,677,152 (GRCm39) |
Y443C |
probably damaging |
Het |
| Sult5a1 |
T |
C |
8: 123,872,117 (GRCm39) |
I242V |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,638 (GRCm39) |
R262G |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,784 (GRCm39) |
D267G |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,185,172 (GRCm39) |
V172A |
probably benign |
Het |
| Tcstv3 |
A |
T |
13: 120,779,107 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tmod1 |
T |
A |
4: 46,083,593 (GRCm39) |
S7R |
possibly damaging |
Het |
| Ubqln4 |
C |
T |
3: 88,462,731 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,514 (GRCm39) |
|
probably null |
Het |
| Usp30 |
G |
A |
5: 114,258,308 (GRCm39) |
S306N |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,794,970 (GRCm39) |
I660N |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,547 (GRCm39) |
V313A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,265,744 (GRCm39) |
H234R |
possibly damaging |
Het |
| Wdr70 |
T |
C |
15: 8,065,327 (GRCm39) |
D245G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,172 (GRCm39) |
K1068E |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,124,856 (GRCm39) |
K539E |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,593,872 (GRCm39) |
H119Q |
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 |
|
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 |
|
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'- GCTACTATACCGAGTTCAAACATC -3'
(R):5'- GCCCCAGAATGCAATCATTTTC -3'
Sequencing Primer
(F):5'- TACCGAGTTCAAACATCTGAAGAG -3'
(R):5'- CAGAGTTTATGTGGAACATTACTGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation