Incidental Mutation 'R7007:Ankrd36'
| ID |
544779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
045109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R7007 (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 5639168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1360
(E1360G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109856]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109856
AA Change: E1360G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: E1360G
| 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 |
|
| Meta Mutation Damage Score |
0.1092 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (63/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,121 (GRCm39) |
T57I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,576,565 (GRCm39) |
N999S |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,684,483 (GRCm39) |
I1073F |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,843,439 (GRCm39) |
D686G |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,471,881 (GRCm39) |
I309N |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,370,051 (GRCm39) |
Q788K |
probably damaging |
Het |
| Apoc2 |
A |
T |
7: 19,407,282 (GRCm39) |
D26E |
possibly damaging |
Het |
| Bbx |
G |
A |
16: 50,022,851 (GRCm39) |
T703I |
possibly damaging |
Het |
| C2cd4d |
T |
C |
3: 94,271,378 (GRCm39) |
Y215H |
probably benign |
Het |
| C3 |
C |
T |
17: 57,525,809 (GRCm39) |
E858K |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,329,171 (GRCm39) |
L482P |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,052 (GRCm39) |
E191G |
probably benign |
Het |
| Cnst |
T |
A |
1: 179,438,133 (GRCm39) |
S566T |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,417,609 (GRCm39) |
I1322T |
possibly damaging |
Het |
| Cp |
G |
A |
3: 20,024,137 (GRCm39) |
V326M |
probably damaging |
Het |
| Cyp7b1 |
G |
A |
3: 18,151,782 (GRCm39) |
Q144* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,864,490 (GRCm39) |
S2232P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,009,697 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,571,910 (GRCm39) |
D794E |
probably benign |
Het |
| Dusp10 |
G |
A |
1: 183,769,414 (GRCm39) |
V127M |
probably benign |
Het |
| Dysf |
G |
C |
6: 84,090,962 (GRCm39) |
W1015C |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,577,808 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm6408 |
G |
A |
5: 146,420,647 (GRCm39) |
E176K |
probably damaging |
Het |
| Gp1bb |
T |
A |
16: 18,439,689 (GRCm39) |
D135V |
possibly damaging |
Het |
| Gprin1 |
C |
T |
13: 54,886,069 (GRCm39) |
C735Y |
probably damaging |
Het |
| Heatr9 |
T |
A |
11: 83,411,446 (GRCm39) |
M30L |
possibly damaging |
Het |
| Hhat |
G |
A |
1: 192,376,134 (GRCm39) |
T333I |
possibly damaging |
Het |
| Htr5b |
A |
G |
1: 121,438,223 (GRCm39) |
F336S |
probably damaging |
Het |
| Ippk |
T |
G |
13: 49,590,181 (GRCm39) |
|
probably null |
Het |
| Jph1 |
T |
A |
1: 17,074,410 (GRCm39) |
H11L |
possibly damaging |
Het |
| Kif12 |
T |
A |
4: 63,084,717 (GRCm39) |
I534L |
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,788,137 (GRCm39) |
F523I |
probably benign |
Het |
| Lgsn |
C |
A |
1: 31,229,508 (GRCm39) |
H76Q |
probably benign |
Het |
| Lipm |
T |
A |
19: 34,089,497 (GRCm39) |
W152R |
probably damaging |
Het |
| Mei1 |
A |
T |
15: 81,978,200 (GRCm39) |
R216W |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,389,274 (GRCm39) |
G379S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,142 (GRCm39) |
T512A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,337,849 (GRCm39) |
|
probably null |
Het |
| Npc1 |
T |
C |
18: 12,343,605 (GRCm39) |
T463A |
probably benign |
Het |
| Or12e10 |
A |
G |
2: 87,640,230 (GRCm39) |
N22S |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,415,011 (GRCm39) |
V154M |
probably benign |
Het |
| Or6c7 |
A |
T |
10: 129,323,277 (GRCm39) |
I133F |
probably damaging |
Het |
| Osbpl11 |
T |
G |
16: 33,047,309 (GRCm39) |
I424R |
possibly damaging |
Het |
| Pnma8b |
A |
T |
7: 16,680,181 (GRCm39) |
K388N |
possibly damaging |
Het |
| Ppp1r26 |
A |
T |
2: 28,341,171 (GRCm39) |
K267I |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,854,166 (GRCm39) |
M104K |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,292,318 (GRCm39) |
V378A |
probably benign |
Het |
| Rcan2 |
C |
T |
17: 44,147,216 (GRCm39) |
S18F |
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,526,309 (GRCm39) |
D154V |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,545 (GRCm39) |
R859Q |
probably benign |
Het |
| Slc7a1 |
G |
A |
5: 148,289,256 (GRCm39) |
|
|
Het |
| Spata31d1a |
T |
A |
13: 59,851,448 (GRCm39) |
T227S |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,794,173 (GRCm39) |
V1459E |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,247,275 (GRCm39) |
I586V |
probably benign |
Het |
| St6galnac1 |
G |
A |
11: 116,657,833 (GRCm39) |
R356* |
probably null |
Het |
| Taf5 |
T |
A |
19: 47,059,650 (GRCm39) |
F265I |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,573,727 (GRCm39) |
I229L |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,436,679 (GRCm39) |
L56Q |
probably damaging |
Het |
| Togaram2 |
C |
T |
17: 72,016,638 (GRCm39) |
A665V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,537,390 (GRCm39) |
T34846I |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,548 (GRCm39) |
A4V |
probably benign |
Het |
| Ubap2 |
A |
C |
4: 41,206,221 (GRCm39) |
F549L |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 44,001,339 (GRCm39) |
S294P |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,407,187 (GRCm39) |
N53D |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,142 (GRCm39) |
S444P |
probably damaging |
Het |
| Zfp597 |
T |
C |
16: 3,683,791 (GRCm39) |
I322V |
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 |
|
|
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'- CATACCATCATGCCTGGCTTTATG -3'
(R):5'- GAGCTTTGCTATTTCCCTGGAC -3'
Sequencing Primer
(F):5'- CATGCCTGGCTTTATGTTTTAAATG -3'
(R):5'- TTGGCTTGCTCACCCGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation