Incidental Mutation 'R7992:Ankfn1'
| ID |
651826 |
| 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 |
046033-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R7992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89413859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 172
(I172S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128717]
[ENSMUST00000169201]
[ENSMUST00000207350]
|
| AlphaFold |
A0A571BF63 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: I192S
| 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: I172S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: I172S
| 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 benign
Transcript: ENSMUST00000207350
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,310,904 (GRCm39) |
T1054A |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,605,367 (GRCm39) |
T280A |
possibly damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,638,827 (GRCm39) |
E307D |
probably benign |
Het |
| Bptf |
C |
T |
11: 107,001,709 (GRCm39) |
V468I |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,786,987 (GRCm39) |
V464A |
probably benign |
Het |
| Cmc2 |
A |
T |
8: 117,616,446 (GRCm39) |
L93* |
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,407,569 (GRCm39) |
D360G |
probably benign |
Het |
| Dock6 |
C |
T |
9: 21,744,135 (GRCm39) |
|
probably null |
Het |
| Erp44 |
A |
G |
4: 48,218,136 (GRCm39) |
F178L |
possibly damaging |
Het |
| Fam47e |
T |
C |
5: 92,722,541 (GRCm39) |
V79A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,542,165 (GRCm39) |
S770P |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,191,897 (GRCm39) |
F304L |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,230,538 (GRCm39) |
E725G |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,638,825 (GRCm39) |
I1971V |
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,844,652 (GRCm39) |
S59G |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,680,373 (GRCm39) |
I15N |
possibly damaging |
Het |
| Hesx1 |
T |
C |
14: 26,723,379 (GRCm39) |
S70P |
probably benign |
Het |
| Htr5a |
T |
C |
5: 28,055,995 (GRCm39) |
S329P |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
| Iba57 |
T |
A |
11: 59,052,288 (GRCm39) |
M118L |
unknown |
Het |
| Ifi35 |
C |
T |
11: 101,348,307 (GRCm39) |
Q112* |
probably null |
Het |
| Il12rb1 |
G |
T |
8: 71,265,233 (GRCm39) |
R183L |
possibly damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,328,311 (GRCm39) |
Y306* |
probably null |
Het |
| Ints1 |
C |
G |
5: 139,742,282 (GRCm39) |
D1722H |
probably damaging |
Het |
| Ipp |
T |
G |
4: 116,381,453 (GRCm39) |
D317E |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,142,481 (GRCm39) |
T912A |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,693,045 (GRCm39) |
V634A |
probably damaging |
Het |
| Klhl40 |
C |
A |
9: 121,607,748 (GRCm39) |
P303T |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,008,478 (GRCm39) |
T420A |
unknown |
Het |
| Lpcat2 |
T |
C |
8: 93,582,186 (GRCm39) |
F35S |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,289,753 (GRCm39) |
V5470A |
probably damaging |
Het |
| Mta2 |
T |
C |
19: 8,925,151 (GRCm39) |
|
probably null |
Het |
| Muc16 |
G |
T |
9: 18,567,725 (GRCm39) |
T1598K |
unknown |
Het |
| Nckap5 |
A |
T |
1: 125,954,547 (GRCm39) |
N668K |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,150,070 (GRCm39) |
D559V |
possibly damaging |
Het |
| Npat |
T |
C |
9: 53,474,167 (GRCm39) |
L653P |
probably benign |
Het |
| Oog1 |
G |
A |
12: 87,655,252 (GRCm39) |
V467I |
possibly damaging |
Het |
| Or4c15b |
A |
G |
2: 89,113,082 (GRCm39) |
S132P |
probably benign |
Het |
| Or4f56 |
C |
T |
2: 111,703,280 (GRCm39) |
A307T |
probably benign |
Het |
| Pdzph1 |
T |
A |
17: 59,186,105 (GRCm39) |
M1229L |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,614,445 (GRCm39) |
Q106L |
|
Het |
| Plekha5 |
C |
A |
6: 140,472,267 (GRCm39) |
R65S |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,381 (GRCm39) |
Y425C |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,465 (GRCm39) |
M534T |
possibly damaging |
Het |
| Rtkn2 |
C |
T |
10: 67,875,923 (GRCm39) |
P411S |
probably damaging |
Het |
| Scand1 |
G |
A |
2: 156,154,232 (GRCm39) |
P13S |
unknown |
Het |
| Scaper |
T |
C |
9: 55,765,438 (GRCm39) |
H550R |
probably benign |
Het |
| Senp5 |
T |
A |
16: 31,796,514 (GRCm39) |
K617I |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,613,972 (GRCm39) |
L282P |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,166,256 (GRCm39) |
C227S |
probably damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,747,729 (GRCm39) |
T284S |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,120,831 (GRCm39) |
F579L |
probably damaging |
Het |
| Tes |
G |
T |
6: 17,096,242 (GRCm39) |
A77S |
possibly damaging |
Het |
| Themis |
A |
T |
10: 28,637,342 (GRCm39) |
T149S |
probably benign |
Het |
| Tmprss6 |
C |
T |
15: 78,326,664 (GRCm39) |
R653H |
probably benign |
Het |
| Trmt6 |
G |
A |
2: 132,652,959 (GRCm39) |
L107F |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,792,714 (GRCm39) |
C713R |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,667,454 (GRCm39) |
I820V |
probably benign |
Het |
| Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,668,622 (GRCm39) |
V82E |
possibly damaging |
Het |
| Zfp938 |
T |
A |
10: 82,061,777 (GRCm39) |
Y281F |
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 |
|
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 |
|
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'- AAGGCTCCCTTTCAATAGCATTC -3'
(R):5'- AACTTCCAGGGCAACGAAG -3'
Sequencing Primer
(F):5'- AGAGAACAATTAAGTGCTTAGACTG -3'
(R):5'- CAACGAAGCCATGTTTGAGGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation