Incidental Mutation 'R9644:Ankrd36'
| ID |
726157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R9644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5593835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 480
(D480G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109856]
[ENSMUST00000118112]
[ENSMUST00000137933]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109856
AA Change: D1122G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: D1122G
| 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: D1155G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: D1155G
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137933
AA Change: D480G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: D480G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,270,752 (GRCm39) |
S32* |
probably null |
Het |
| Adam34 |
T |
A |
8: 44,104,766 (GRCm39) |
H293L |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,872,036 (GRCm39) |
N910S |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,267,278 (GRCm39) |
D185E |
probably benign |
Het |
| Apol8 |
C |
A |
15: 77,633,695 (GRCm39) |
V294L |
probably damaging |
Het |
| Arsk |
G |
A |
13: 76,220,227 (GRCm39) |
A289V |
probably damaging |
Het |
| Atg101 |
A |
G |
15: 101,188,447 (GRCm39) |
D184G |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,042,659 (GRCm39) |
T73I |
probably damaging |
Het |
| Ccn4 |
T |
G |
15: 66,784,785 (GRCm39) |
C153G |
|
Het |
| Ccser2 |
A |
T |
14: 36,601,150 (GRCm39) |
N411K |
possibly damaging |
Het |
| Cct5 |
A |
G |
15: 31,601,845 (GRCm39) |
S3P |
probably benign |
Het |
| Chn1 |
A |
T |
2: 73,490,184 (GRCm39) |
I31K |
probably benign |
Het |
| Clec2e |
T |
A |
6: 129,070,443 (GRCm39) |
I193L |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,587,497 (GRCm39) |
G201R |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,336 (GRCm39) |
V68A |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,363 (GRCm39) |
I438N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,650 (GRCm39) |
W183R |
probably damaging |
Het |
| Dnali1 |
T |
A |
4: 124,950,402 (GRCm39) |
I253F |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,881,790 (GRCm39) |
L83P |
probably damaging |
Het |
| Emx2 |
T |
C |
19: 59,452,427 (GRCm39) |
I237T |
probably benign |
Het |
| Enpp3 |
C |
T |
10: 24,685,801 (GRCm39) |
R198K |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,367,165 (GRCm39) |
P678L |
possibly damaging |
Het |
| Epm2aip1 |
C |
T |
9: 111,102,137 (GRCm39) |
T370I |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,573,342 (GRCm39) |
Q346P |
probably damaging |
Het |
| Foxi2 |
A |
C |
7: 135,013,727 (GRCm39) |
H319P |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,691,442 (GRCm39) |
V250A |
possibly damaging |
Het |
| Gmeb1 |
T |
C |
4: 131,959,440 (GRCm39) |
I205V |
probably benign |
Het |
| Gucy2g |
C |
G |
19: 55,219,537 (GRCm39) |
V362L |
probably benign |
Het |
| Hace1 |
T |
C |
10: 45,526,001 (GRCm39) |
S281P |
probably benign |
Het |
| Helz |
C |
A |
11: 107,563,687 (GRCm39) |
A1709D |
unknown |
Het |
| Igf2bp2 |
T |
A |
16: 21,902,735 (GRCm39) |
N115Y |
probably damaging |
Het |
| Igkv4-86 |
C |
T |
6: 68,887,593 (GRCm39) |
V49I |
probably benign |
Het |
| Kdm2b |
A |
T |
5: 123,120,842 (GRCm39) |
V101E |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,061,018 (GRCm39) |
D790G |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,375,836 (GRCm39) |
V10A |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,743,385 (GRCm39) |
M3925K |
unknown |
Het |
| Mcee |
G |
T |
7: 64,061,730 (GRCm39) |
A178S |
possibly damaging |
Het |
| Megf10 |
A |
T |
18: 57,375,773 (GRCm39) |
H233L |
probably benign |
Het |
| Meox1 |
T |
A |
11: 101,769,482 (GRCm39) |
E238V |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,043,631 (GRCm39) |
G207R |
probably damaging |
Het |
| Nemf |
T |
A |
12: 69,359,436 (GRCm39) |
N966I |
possibly damaging |
Het |
| Or10q3 |
T |
C |
19: 11,848,574 (GRCm39) |
E2G |
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,417,777 (GRCm39) |
M118L |
probably damaging |
Het |
| Or5b123 |
G |
T |
19: 13,597,344 (GRCm39) |
A230S |
probably benign |
Het |
| Or6c204 |
A |
G |
10: 129,022,738 (GRCm39) |
I184T |
possibly damaging |
Het |
| Pfas |
T |
C |
11: 68,883,542 (GRCm39) |
Q662R |
probably benign |
Het |
| Phf2 |
G |
T |
13: 49,024,218 (GRCm39) |
C8* |
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,617,690 (GRCm39) |
N965I |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Prb1b |
T |
A |
6: 132,289,218 (GRCm39) |
Q202L |
unknown |
Het |
| Prdm8 |
A |
T |
5: 98,333,638 (GRCm39) |
T402S |
probably benign |
Het |
| Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,813,493 (GRCm39) |
I951K |
probably damaging |
Het |
| Rasgef1b |
A |
T |
5: 99,380,014 (GRCm39) |
Y288* |
probably null |
Het |
| Sacs |
T |
A |
14: 61,443,428 (GRCm39) |
C1825S |
probably benign |
Het |
| Slc22a12 |
G |
C |
19: 6,587,673 (GRCm39) |
P427R |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,929,276 (GRCm39) |
T56I |
|
Het |
| Synrg |
T |
C |
11: 83,910,696 (GRCm39) |
L876S |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,354,666 (GRCm39) |
C1369R |
unknown |
Het |
| Tet2 |
G |
A |
3: 133,193,064 (GRCm39) |
Q457* |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,364,495 (GRCm39) |
V221A |
probably damaging |
Het |
| Tor3a |
T |
A |
1: 156,501,126 (GRCm39) |
D104V |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,744,439 (GRCm39) |
V737A |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,129,699 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,135 (GRCm39) |
S287P |
possibly damaging |
Het |
| Ube2u |
TAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TAGAAGAAGAAGAAGAAGAAGAAGA |
4: 100,406,943 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,266,706 (GRCm39) |
|
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,122,635 (GRCm39) |
T260S |
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 |
|
R8221:Ankrd36
|
UTSW |
11 |
5,534,016 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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'- GGCAAAAGGTTACCAAACTGC -3'
(R):5'- GAAAACTCTGCTTGTTGTGGTC -3'
Sequencing Primer
(F):5'- GACCTTTATCTGCTGATGTATGAGAC -3'
(R):5'- TGGTCATGTGCCTGCAAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation