Incidental Mutation 'R9624:Ankfn1'
| ID |
725047 |
| 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: 0.350)
|
| Stock # |
R9624 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
89280918-89668727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89414033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 114
(N114S)
|
| 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: N134S
| 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: N114S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: N114S
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,509,070 (GRCm39) |
N481I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,989,846 (GRCm39) |
L3710Q |
unknown |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,965 (GRCm39) |
D105G |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,301,891 (GRCm39) |
T137S |
possibly damaging |
Het |
| Atp1b3 |
A |
G |
9: 96,222,293 (GRCm39) |
S165P |
probably benign |
Het |
| Atxn7l3 |
T |
C |
11: 102,182,852 (GRCm39) |
D256G |
probably benign |
Het |
| B430305J03Rik |
C |
A |
3: 61,271,408 (GRCm39) |
L112F |
unknown |
Het |
| Bub1 |
A |
T |
2: 127,646,766 (GRCm39) |
I838K |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,527,189 (GRCm39) |
E753D |
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,364,942 (GRCm39) |
D107G |
probably benign |
Het |
| Cenpj |
A |
T |
14: 56,802,387 (GRCm39) |
H59Q |
probably benign |
Het |
| Cxxc1 |
A |
T |
18: 74,352,512 (GRCm39) |
H364L |
possibly damaging |
Het |
| Dapk1 |
T |
C |
13: 60,895,937 (GRCm39) |
I675T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,738,991 (GRCm39) |
S663P |
unknown |
Het |
| Epha8 |
G |
T |
4: 136,659,065 (GRCm39) |
P863Q |
probably damaging |
Het |
| Erich6 |
G |
T |
3: 58,536,766 (GRCm39) |
T278N |
possibly damaging |
Het |
| Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
| Fam83g |
C |
T |
11: 61,575,328 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
T |
7: 79,085,117 (GRCm39) |
I848L |
probably benign |
Het |
| Foxj3 |
T |
A |
4: 119,483,589 (GRCm39) |
D620E |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,012,129 (GRCm39) |
N106Y |
possibly damaging |
Het |
| Gm17654 |
T |
C |
14: 43,815,492 (GRCm39) |
D105G |
|
Het |
| Gps1 |
C |
A |
11: 120,677,434 (GRCm39) |
A216D |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,780,110 (GRCm39) |
K339R |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,219 (GRCm39) |
T396A |
probably damaging |
Het |
| Lratd2 |
A |
T |
15: 60,694,993 (GRCm39) |
I251N |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,497,586 (GRCm39) |
I135V |
probably benign |
Het |
| Mylk |
C |
A |
16: 34,699,677 (GRCm39) |
Q347K |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,303,156 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,822 (GRCm39) |
F81S |
probably benign |
Het |
| Or10j3 |
A |
T |
1: 173,031,672 (GRCm39) |
I250F |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,834 (GRCm39) |
I158N |
possibly damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,866 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,453 (GRCm39) |
N170Y |
probably benign |
Het |
| Or8g30 |
G |
T |
9: 39,230,848 (GRCm39) |
Q21K |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,197,767 (GRCm39) |
P1590S |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,849,869 (GRCm39) |
K68* |
probably null |
Het |
| Prss33 |
A |
G |
17: 24,054,656 (GRCm39) |
V14A |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,503 (GRCm39) |
N162S |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,963,857 (GRCm39) |
V1042E |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,153,766 (GRCm39) |
M689K |
probably benign |
Het |
| Senp7 |
A |
T |
16: 55,990,075 (GRCm39) |
I608F |
probably damaging |
Het |
| Sh2b1 |
AGCTCAGCCACGGGGAC |
AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGACCAGCTCAGCCACG |
GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG |
7: 126,066,744 (GRCm39) |
|
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,532,510 (GRCm39) |
V370A |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,228,690 (GRCm39) |
I307V |
possibly damaging |
Het |
| Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,352,197 (GRCm39) |
T50M |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,699,373 (GRCm39) |
F269Y |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,863,345 (GRCm39) |
V2114M |
|
Het |
| Tcerg1l |
A |
G |
7: 137,995,923 (GRCm39) |
V195A |
possibly damaging |
Het |
| Tent4a |
A |
T |
13: 69,651,787 (GRCm39) |
W545R |
probably damaging |
Het |
| Tmem128 |
G |
T |
5: 38,422,236 (GRCm39) |
R105L |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,671 (GRCm39) |
I96N |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,410 (GRCm39) |
S7N |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,414,063 (GRCm39) |
N308K |
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 |
|
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 |
|
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'- AGAAGAATCCTCGCAATGGG -3'
(R):5'- AAAGACCGGGTCATACAGTGC -3'
Sequencing Primer
(F):5'- TCGCAATGGGCACGTTG -3'
(R):5'- GGGTCATACAGTGCAAAATCATC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation