Incidental Mutation 'R7783:Ankrd36'
ID |
599390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd36
|
Ensembl Gene |
ENSMUSG00000020481 |
Gene Name |
ankyrin repeat domain 36 |
Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
MMRRC Submission |
045839-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R7783 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5585359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 390
(L390P)
|
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: L1032P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105482 Gene: ENSMUSG00000020481 AA Change: L1032P
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: L1065P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122397 Gene: ENSMUSG00000020481 AA Change: L1065P
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: L390P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120499 Gene: ENSMUSG00000020481 AA Change: L390P
Domain | Start | End | E-Value | Type |
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
G |
T |
5: 124,216,875 (GRCm39) |
Y447* |
probably null |
Het |
Abl2 |
T |
C |
1: 156,386,641 (GRCm39) |
V8A |
probably benign |
Het |
Adam33 |
C |
T |
2: 130,900,257 (GRCm39) |
R103K |
unknown |
Het |
Adamts13 |
G |
T |
2: 26,880,597 (GRCm39) |
A727S |
not run |
Het |
Ajm1 |
A |
T |
2: 25,467,820 (GRCm39) |
L697Q |
probably damaging |
Het |
Alpk2 |
A |
T |
18: 65,439,325 (GRCm39) |
C689* |
probably null |
Het |
Amt |
C |
T |
9: 108,174,414 (GRCm39) |
Q60* |
probably null |
Het |
Ankrd12 |
A |
G |
17: 66,334,245 (GRCm39) |
|
probably null |
Het |
Ankrd28 |
A |
T |
14: 31,428,770 (GRCm39) |
N920K |
probably damaging |
Het |
Arvcf |
T |
G |
16: 18,207,063 (GRCm39) |
H7Q |
probably benign |
Het |
Asns |
A |
G |
6: 7,677,978 (GRCm39) |
S367P |
probably damaging |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
C7 |
T |
A |
15: 5,037,192 (GRCm39) |
H562L |
probably benign |
Het |
Ccdc77 |
T |
C |
6: 120,327,334 (GRCm39) |
D37G |
probably damaging |
Het |
Cdc14a |
C |
T |
3: 116,198,236 (GRCm39) |
A58T |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,302,459 (GRCm39) |
|
probably null |
Het |
Cilk1 |
G |
T |
9: 78,042,927 (GRCm39) |
V51F |
probably damaging |
Het |
Corin |
A |
T |
5: 72,458,967 (GRCm39) |
F1068L |
probably benign |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Ercc3 |
T |
A |
18: 32,381,296 (GRCm39) |
S371T |
probably damaging |
Het |
Fam193a |
A |
C |
5: 34,588,524 (GRCm39) |
K358Q |
probably damaging |
Het |
Fem1a |
G |
A |
17: 56,564,522 (GRCm39) |
C205Y |
probably benign |
Het |
Fh1 |
G |
A |
1: 175,439,744 (GRCm39) |
T233M |
probably damaging |
Het |
Ftsj3 |
CCTTCTTCTTCTTCTTCT |
CCTTCTTCTTCTTCT |
11: 106,143,377 (GRCm39) |
|
probably benign |
Het |
Gabra6 |
T |
C |
11: 42,207,289 (GRCm39) |
N265S |
probably damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Grm6 |
T |
A |
11: 50,753,909 (GRCm39) |
C738S |
probably damaging |
Het |
Gtsf1 |
C |
T |
15: 103,336,996 (GRCm39) |
|
probably benign |
Het |
Hcrtr2 |
T |
A |
9: 76,140,196 (GRCm39) |
Y364F |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,336 (GRCm39) |
I374V |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,677,785 (GRCm39) |
F250L |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,458,807 (GRCm39) |
V37A |
probably benign |
Het |
Izumo3 |
A |
T |
4: 92,033,260 (GRCm39) |
I182K |
probably damaging |
Het |
Kidins220 |
G |
A |
12: 25,038,555 (GRCm39) |
A36T |
probably damaging |
Het |
Lrrtm1 |
G |
T |
6: 77,221,236 (GRCm39) |
R231L |
probably damaging |
Het |
Mical2 |
A |
T |
7: 112,012,183 (GRCm39) |
S678C |
probably damaging |
Het |
Mme |
T |
G |
3: 63,272,288 (GRCm39) |
F629C |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,411,078 (GRCm39) |
H1341Q |
unknown |
Het |
Or13a28 |
A |
G |
7: 140,217,637 (GRCm39) |
T8A |
possibly damaging |
Het |
Or13p5 |
T |
A |
4: 118,592,099 (GRCm39) |
D124E |
probably damaging |
Het |
Or2y1e |
A |
G |
11: 49,219,029 (GRCm39) |
S264G |
probably benign |
Het |
Or5e1 |
A |
T |
7: 108,354,776 (GRCm39) |
T238S |
probably damaging |
Het |
Or5p70 |
A |
G |
7: 107,995,296 (GRCm39) |
H323R |
probably benign |
Het |
Parm1 |
A |
T |
5: 91,741,724 (GRCm39) |
M31L |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,622,874 (GRCm39) |
C68Y |
probably benign |
Het |
Pkn3 |
A |
T |
2: 29,969,634 (GRCm39) |
E35V |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,748,495 (GRCm39) |
Y238N |
probably damaging |
Het |
Pld6 |
T |
C |
11: 59,678,097 (GRCm39) |
D122G |
probably damaging |
Het |
Prag1 |
G |
T |
8: 36,570,409 (GRCm39) |
A331S |
possibly damaging |
Het |
Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
Rps6kc1 |
A |
G |
1: 190,505,851 (GRCm39) |
V1037A |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,953,588 (GRCm39) |
V766A |
probably benign |
Het |
Spata18 |
A |
G |
5: 73,825,953 (GRCm39) |
T87A |
|
Het |
St3gal3 |
T |
C |
4: 117,797,320 (GRCm39) |
M308V |
probably benign |
Het |
Stx19 |
T |
C |
16: 62,642,649 (GRCm39) |
L155S |
probably benign |
Het |
Tespa1 |
A |
T |
10: 130,192,752 (GRCm39) |
T145S |
probably damaging |
Het |
Timm21 |
A |
C |
18: 84,965,846 (GRCm39) |
F221V |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,082,264 (GRCm39) |
F771Y |
probably damaging |
Het |
Tmem150a |
C |
A |
6: 72,335,606 (GRCm39) |
L125I |
unknown |
Het |
Try4 |
T |
C |
6: 41,279,229 (GRCm39) |
L4P |
possibly damaging |
Het |
Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
Txndc16 |
A |
T |
14: 45,382,417 (GRCm39) |
N609K |
probably benign |
Het |
Upf1 |
T |
C |
8: 70,805,508 (GRCm39) |
T46A |
probably benign |
Het |
Zfp266 |
T |
C |
9: 20,411,626 (GRCm39) |
N184D |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,228,047 (GRCm39) |
V1854A |
possibly damaging |
Het |
Zfp626 |
T |
A |
7: 27,517,795 (GRCm39) |
C259S |
possibly 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 |
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 |
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'- CAAAGAATGTGCACCAGGAC -3'
(R):5'- GCATGCTACGTCCTTACACG -3'
Sequencing Primer
(F):5'- GGACATCCAGAAGTTCCTTCAGTG -3'
(R):5'- GCTAAGCTCGTGTTCAGACCAAG -3'
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Posted On |
2019-11-26 |