Incidental Mutation 'R8221:Ankrd36'
| ID |
636707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
067639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R8221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5534016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 289
(N289S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109855]
[ENSMUST00000109856]
[ENSMUST00000118112]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109855
AA Change: N289S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105481
Gene: ENSMUSG00000020481
AA Change: N289S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
29 |
62 |
5e-13 |
BLAST |
|
ANK
|
66 |
95 |
4.5e-3 |
SMART |
|
ANK
|
99 |
128 |
1.44e-1 |
SMART |
|
ANK
|
132 |
161 |
4.6e0 |
SMART |
|
ANK
|
165 |
194 |
2.48e-5 |
SMART |
|
ANK
|
198 |
227 |
4.67e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109856
AA Change: N289S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: N289S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
29 |
62 |
3e-12 |
BLAST |
|
ANK
|
66 |
95 |
4.5e-3 |
SMART |
|
ANK
|
99 |
128 |
1.44e-1 |
SMART |
|
ANK
|
132 |
161 |
4.6e0 |
SMART |
|
ANK
|
165 |
194 |
2.48e-5 |
SMART |
|
ANK
|
198 |
227 |
4.67e-1 |
SMART |
|
internal_repeat_1
|
449 |
555 |
1.04e-5 |
PROSPERO |
|
internal_repeat_1
|
891 |
981 |
1.04e-5 |
PROSPERO |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
coiled coil region
|
1268 |
1297 |
N/A |
INTRINSIC |
|
coiled coil region
|
1318 |
1338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118112
AA Change: N289S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: N289S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
29 |
62 |
3e-12 |
BLAST |
|
ANK
|
66 |
95 |
2.9e-5 |
SMART |
|
ANK
|
99 |
128 |
9.4e-4 |
SMART |
|
ANK
|
132 |
161 |
2.9e-2 |
SMART |
|
ANK
|
165 |
194 |
1.5e-7 |
SMART |
|
ANK
|
198 |
227 |
2.9e-3 |
SMART |
|
internal_repeat_1
|
255 |
352 |
8.15e-5 |
PROSPERO |
|
internal_repeat_1
|
438 |
538 |
8.15e-5 |
PROSPERO |
|
low complexity region
|
1138 |
1151 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
G |
11: 100,410,576 (GRCm39) |
F134S |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,257,262 (GRCm39) |
|
probably null |
Het |
| Adam29 |
G |
T |
8: 56,325,463 (GRCm39) |
N330K |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,677,033 (GRCm39) |
S1933P |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,824 (GRCm39) |
H785R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,800 (GRCm39) |
L3028* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,807,847 (GRCm39) |
T462A |
possibly damaging |
Het |
| Ankrd46 |
A |
T |
15: 36,486,001 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ankrd54 |
T |
G |
15: 78,940,270 (GRCm39) |
D163A |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,282,064 (GRCm39) |
L10P |
probably benign |
Het |
| Atm |
A |
T |
9: 53,367,288 (GRCm39) |
|
probably null |
Het |
| Azin1 |
G |
C |
15: 38,492,572 (GRCm39) |
F312L |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,482 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,503,751 (GRCm39) |
V56I |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,486,471 (GRCm39) |
S300P |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,551,224 (GRCm39) |
Y2131H |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,506,190 (GRCm39) |
S287P |
probably benign |
Het |
| Dctn4 |
A |
G |
18: 60,689,401 (GRCm39) |
D424G |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,546,847 (GRCm39) |
T284A |
probably benign |
Het |
| E330034G19Rik |
A |
C |
14: 24,346,135 (GRCm39) |
|
probably null |
Het |
| Ehhadh |
G |
A |
16: 21,581,373 (GRCm39) |
P540S |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,297,111 (GRCm39) |
E24G |
probably damaging |
Het |
| F930015N05Rik |
A |
C |
11: 64,326,418 (GRCm39) |
L74W |
unknown |
Het |
| Fat1 |
A |
G |
8: 45,406,390 (GRCm39) |
D1047G |
|
Het |
| Galnt7 |
A |
G |
8: 58,005,600 (GRCm39) |
V211A |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,109,611 (GRCm39) |
C543R |
unknown |
Het |
| Ghr |
A |
C |
15: 3,362,901 (GRCm39) |
D190E |
probably benign |
Het |
| Glrx |
A |
G |
13: 75,995,346 (GRCm39) |
M89V |
probably benign |
Het |
| Gm10323 |
A |
C |
13: 67,000,859 (GRCm39) |
Y91* |
noncoding transcript |
Het |
| Gnb4 |
A |
T |
3: 32,644,184 (GRCm39) |
D153E |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,276,254 (GRCm39) |
|
probably null |
Het |
| Grip2 |
T |
C |
6: 91,762,665 (GRCm39) |
D193G |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,347,038 (GRCm39) |
W658R |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,923,115 (GRCm39) |
F416I |
probably benign |
Het |
| Klhl1 |
T |
G |
14: 96,517,546 (GRCm39) |
T377P |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,878 (GRCm39) |
S428P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,416,893 (GRCm39) |
D754G |
probably benign |
Het |
| Mrgprx2 |
T |
A |
7: 48,132,527 (GRCm39) |
Y97F |
probably benign |
Het |
| Msantd2 |
T |
G |
9: 37,400,684 (GRCm39) |
V22G |
probably damaging |
Het |
| Myl6b |
T |
C |
10: 128,333,209 (GRCm39) |
K11R |
unknown |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Npas1 |
T |
C |
7: 16,189,890 (GRCm39) |
E552G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,040 (GRCm39) |
N274S |
possibly damaging |
Het |
| Pmepa1 |
A |
T |
2: 173,069,700 (GRCm39) |
L247Q |
probably damaging |
Het |
| Poll |
T |
C |
19: 45,542,047 (GRCm39) |
K420E |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,628,344 (GRCm39) |
V1283A |
probably benign |
Het |
| Ppil4 |
A |
T |
10: 7,671,444 (GRCm39) |
Y36F |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Psd2 |
C |
T |
18: 36,113,478 (GRCm39) |
R317W |
probably damaging |
Het |
| Pspc1 |
T |
A |
14: 57,015,616 (GRCm39) |
M1L |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,080 (GRCm39) |
F338I |
possibly damaging |
Het |
| Rcor3 |
A |
G |
1: 191,814,749 (GRCm39) |
Y77H |
unknown |
Het |
| Sbno2 |
G |
A |
10: 79,905,845 (GRCm39) |
P157L |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
| Setd3 |
C |
G |
12: 108,073,612 (GRCm39) |
G555A |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,601 (GRCm39) |
M245K |
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,515,902 (GRCm39) |
L26Q |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,534,908 (GRCm39) |
M156L |
probably damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,001,233 (GRCm39) |
I111F |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,528,810 (GRCm39) |
M491K |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,710 (GRCm39) |
H170L |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,797,935 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
A |
18: 15,031,106 (GRCm39) |
L830H |
probably damaging |
Het |
| Tex22 |
A |
G |
12: 113,038,696 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
C |
T |
17: 3,568,860 (GRCm39) |
R1669C |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,821,223 (GRCm39) |
N506I |
probably damaging |
Het |
| Topors |
A |
T |
4: 40,260,686 (GRCm39) |
I866K |
unknown |
Het |
| Trip12 |
G |
T |
1: 84,743,771 (GRCm39) |
T512K |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,791,585 (GRCm39) |
H133L |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,366,441 (GRCm39) |
D422G |
probably damaging |
Het |
| Zfp689 |
A |
C |
7: 127,043,758 (GRCm39) |
C291G |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,576,877 (GRCm39) |
L68P |
possibly damaging |
Het |
| Zswim5 |
G |
T |
4: 116,735,219 (GRCm39) |
R188L |
probably benign |
Het |
|
| Other mutations in Ankrd36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Ankrd36
|
APN |
11 |
5,570,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01361:Ankrd36
|
APN |
11 |
5,546,706 (GRCm39) |
splice site |
probably benign |
|
|
IGL01370:Ankrd36
|
APN |
11 |
5,534,019 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01384:Ankrd36
|
APN |
11 |
5,578,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01484:Ankrd36
|
APN |
11 |
5,579,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01524:Ankrd36
|
APN |
11 |
5,585,092 (GRCm39) |
missense |
probably benign |
|
|
IGL01700:Ankrd36
|
APN |
11 |
5,582,198 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02322:Ankrd36
|
APN |
11 |
5,564,619 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02511:Ankrd36
|
APN |
11 |
5,610,845 (GRCm39) |
splice site |
probably null |
|
|
IGL02824:Ankrd36
|
APN |
11 |
5,524,246 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03204:Ankrd36
|
APN |
11 |
5,534,023 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
PIT4508001:Ankrd36
|
UTSW |
11 |
5,557,137 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0058:Ankrd36
|
UTSW |
11 |
5,580,691 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Ankrd36
|
UTSW |
11 |
5,580,691 (GRCm39) |
splice site |
probably benign |
|
|
R0304:Ankrd36
|
UTSW |
11 |
5,578,981 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0504:Ankrd36
|
UTSW |
11 |
5,579,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0550:Ankrd36
|
UTSW |
11 |
5,557,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0563:Ankrd36
|
UTSW |
11 |
5,579,322 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0891:Ankrd36
|
UTSW |
11 |
5,637,316 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1018:Ankrd36
|
UTSW |
11 |
5,596,876 (GRCm39) |
unclassified |
probably benign |
|
|
R1468:Ankrd36
|
UTSW |
11 |
5,525,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Ankrd36
|
UTSW |
11 |
5,525,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1558:Ankrd36
|
UTSW |
11 |
5,585,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1663:Ankrd36
|
UTSW |
11 |
5,570,126 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1682:Ankrd36
|
UTSW |
11 |
5,557,143 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1898:Ankrd36
|
UTSW |
11 |
5,525,683 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2019:Ankrd36
|
UTSW |
11 |
5,639,140 (GRCm39) |
missense |
probably benign |
|
|
R2032:Ankrd36
|
UTSW |
11 |
5,578,616 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2084:Ankrd36
|
UTSW |
11 |
5,612,378 (GRCm39) |
nonsense |
probably null |
|
|
R4097:Ankrd36
|
UTSW |
11 |
5,578,703 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4572:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
splice site |
probably null |
|
|
R4601:Ankrd36
|
UTSW |
11 |
5,520,102 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4770:Ankrd36
|
UTSW |
11 |
5,540,870 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4777:Ankrd36
|
UTSW |
11 |
5,557,120 (GRCm39) |
missense |
probably benign |
|
|
R4894:Ankrd36
|
UTSW |
11 |
5,585,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
unclassified |
probably benign |
|
|
R5366:Ankrd36
|
UTSW |
11 |
5,542,841 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
unclassified |
probably benign |
|
|
R5385:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
unclassified |
probably benign |
|
|
R6109:Ankrd36
|
UTSW |
11 |
5,578,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6155:Ankrd36
|
UTSW |
11 |
5,637,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6186:Ankrd36
|
UTSW |
11 |
5,593,812 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6289:Ankrd36
|
UTSW |
11 |
5,578,837 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6476:Ankrd36
|
UTSW |
11 |
5,578,753 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6816:Ankrd36
|
UTSW |
11 |
5,593,765 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6880:Ankrd36
|
UTSW |
11 |
5,578,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6919:Ankrd36
|
UTSW |
11 |
5,579,299 (GRCm39) |
missense |
probably benign |
|
|
R7007:Ankrd36
|
UTSW |
11 |
5,639,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Ankrd36
|
UTSW |
11 |
5,578,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7617:Ankrd36
|
UTSW |
11 |
5,637,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7684:Ankrd36
|
UTSW |
11 |
5,520,113 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7746:Ankrd36
|
UTSW |
11 |
5,637,451 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7783:Ankrd36
|
UTSW |
11 |
5,585,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7790:Ankrd36
|
UTSW |
11 |
5,585,176 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8671:Ankrd36
|
UTSW |
11 |
5,579,312 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8732:Ankrd36
|
UTSW |
11 |
5,578,906 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8768:Ankrd36
|
UTSW |
11 |
5,593,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9026:Ankrd36
|
UTSW |
11 |
5,610,696 (GRCm39) |
missense |
probably benign |
|
|
R9093:Ankrd36
|
UTSW |
11 |
5,589,132 (GRCm39) |
missense |
probably benign |
|
|
R9211:Ankrd36
|
UTSW |
11 |
5,612,370 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9300:Ankrd36
|
UTSW |
11 |
5,519,979 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9644:Ankrd36
|
UTSW |
11 |
5,593,835 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF004:Ankrd36
|
UTSW |
11 |
5,612,411 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
U24488:Ankrd36
|
UTSW |
11 |
5,580,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ankrd36
|
UTSW |
11 |
5,565,538 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ankrd36
|
UTSW |
11 |
5,593,738 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Ankrd36
|
UTSW |
11 |
5,579,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ankrd36
|
UTSW |
11 |
5,521,117 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGTAGGGGCAGCATCTG -3'
(R):5'- TACAGTTAACTCATGCGTTGGTG -3'
Sequencing Primer
(F):5'- AGGAGAGACTCTGTTATTTGCCC -3'
(R):5'- GGCGTGGCTTTCAGTAACTACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation