Incidental Mutation 'R6880:Ankrd36'
| ID |
536622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
044976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5578748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 4
(L4P)
|
| 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: L647P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: L647P
| 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: L679P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: L679P
| 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 |
probably damaging
Transcript: ENSMUST00000137933
AA Change: L4P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: L4P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,123,854 (GRCm39) |
|
probably null |
Het |
| Aff3 |
T |
C |
1: 38,574,243 (GRCm39) |
H206R |
probably damaging |
Het |
| Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
| Alg5 |
A |
G |
3: 54,646,264 (GRCm39) |
E43G |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,538,038 (GRCm39) |
I432V |
probably damaging |
Het |
| B230307C23Rik |
T |
C |
16: 97,798,627 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,743,283 (GRCm39) |
N1563Y |
probably damaging |
Het |
| Bhlha15 |
A |
T |
5: 144,128,451 (GRCm39) |
T188S |
probably damaging |
Het |
| Cbr3 |
T |
C |
16: 93,487,426 (GRCm39) |
V203A |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,486,739 (GRCm39) |
T266A |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,566,831 (GRCm39) |
Y681H |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,579,279 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
T |
A |
18: 20,221,429 (GRCm39) |
D682V |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,254,732 (GRCm39) |
I256N |
possibly damaging |
Het |
| Foxd1 |
A |
C |
13: 98,491,225 (GRCm39) |
D33A |
unknown |
Het |
| Gid4 |
T |
A |
11: 60,327,261 (GRCm39) |
F149I |
probably damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,233,068 (GRCm39) |
V206L |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,726 (GRCm39) |
I135V |
|
Het |
| Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Impg1 |
T |
A |
9: 80,312,082 (GRCm39) |
D167V |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,967 (GRCm39) |
S372P |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,727 (GRCm39) |
T374A |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,714,032 (GRCm39) |
S305P |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,628,044 (GRCm39) |
T1179I |
possibly damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,463 (GRCm39) |
I179T |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,855,501 (GRCm39) |
H1230L |
probably benign |
Het |
| Myocos |
T |
C |
1: 162,484,602 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,582,999 (GRCm39) |
T249A |
probably damaging |
Het |
| Oas1a |
C |
A |
5: 121,040,003 (GRCm39) |
R196L |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,019 (GRCm39) |
S217T |
probably damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,974 (GRCm39) |
I127V |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,314,069 (GRCm39) |
F6L |
probably benign |
Het |
| Phxr2 |
G |
A |
10: 98,961,946 (GRCm39) |
|
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,802 (GRCm39) |
L85P |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,727,202 (GRCm39) |
D518V |
possibly damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,731,839 (GRCm39) |
K294E |
probably benign |
Het |
| Polr3d |
C |
A |
14: 70,677,455 (GRCm39) |
R307L |
probably benign |
Het |
| Pou5f2 |
T |
C |
13: 78,173,613 (GRCm39) |
L185P |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,202,608 (GRCm39) |
N506Y |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,260 (GRCm39) |
S381T |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,436 (GRCm39) |
V682A |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,988,211 (GRCm39) |
L428Q |
probably benign |
Het |
| Prss23 |
A |
G |
7: 89,160,033 (GRCm39) |
V12A |
probably benign |
Het |
| Qki |
T |
C |
17: 10,434,376 (GRCm39) |
D321G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,827 (GRCm39) |
L193P |
probably damaging |
Het |
| Retreg1 |
T |
G |
15: 25,971,825 (GRCm39) |
L245R |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,434,729 (GRCm39) |
N679S |
probably benign |
Het |
| Rpl4 |
C |
T |
9: 64,084,335 (GRCm39) |
A220V |
probably damaging |
Het |
| Rxra |
G |
A |
2: 27,638,668 (GRCm39) |
E224K |
possibly damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,516,159 (GRCm39) |
C557R |
possibly damaging |
Het |
| Sncaip |
A |
G |
18: 53,002,136 (GRCm39) |
K219R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,234,978 (GRCm39) |
V1616A |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,912,979 (GRCm39) |
C738R |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,892,998 (GRCm39) |
C38* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,550,842 (GRCm39) |
T23190A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,855 (GRCm39) |
D96G |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,860,500 (GRCm39) |
N289I |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,187 (GRCm39) |
S723T |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,134,770 (GRCm39) |
I63F |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,222,021 (GRCm39) |
N125S |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,033,548 (GRCm39) |
Y511C |
probably damaging |
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 |
|
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 |
|
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'- GTGTCATTAACAAGCCAACGC -3'
(R):5'- CGTACTTCTGGGCACTTACC -3'
Sequencing Primer
(F):5'- TGTCATTAACAAGCCAACGCAGAAG -3'
(R):5'- GTACTTCTGGGCACTTACCTTTTAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation