Incidental Mutation 'R8793:Ankrd31'
ID |
671064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd31
|
Ensembl Gene |
ENSMUSG00000109561 |
Gene Name |
ankyrin repeat domain 31 |
Synonyms |
|
MMRRC Submission |
068610-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8793 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
96884797-97046302 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96968221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 619
(D619E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146720
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207464]
[ENSMUST00000208758]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000207464
AA Change: D469E
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208758
AA Change: D619E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.3517 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
C |
3: 59,945,804 (GRCm39) |
D158A |
probably damaging |
Het |
Acot7 |
G |
A |
4: 152,284,380 (GRCm39) |
V17I |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,375,076 (GRCm39) |
T184A |
probably benign |
Het |
Arap3 |
A |
G |
18: 38,107,492 (GRCm39) |
F1342L |
probably benign |
Het |
Arfgef1 |
G |
C |
1: 10,212,832 (GRCm39) |
N1696K |
possibly damaging |
Het |
Asap2 |
A |
G |
12: 21,218,212 (GRCm39) |
D45G |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,231,254 (GRCm39) |
M456L |
probably benign |
Het |
Bag5 |
A |
T |
12: 111,677,355 (GRCm39) |
I156N |
possibly damaging |
Het |
Banp |
T |
A |
8: 122,750,743 (GRCm39) |
V478E |
probably benign |
Het |
BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
Bms1 |
T |
A |
6: 118,360,784 (GRCm39) |
K1228M |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,958,429 (GRCm39) |
K649E |
probably benign |
Het |
Cpox |
C |
A |
16: 58,493,708 (GRCm39) |
P226Q |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,594,539 (GRCm39) |
S5P |
unknown |
Het |
Dock2 |
G |
T |
11: 34,451,215 (GRCm39) |
Q837K |
probably benign |
Het |
Fam171a1 |
T |
C |
2: 3,187,535 (GRCm39) |
I134T |
probably damaging |
Het |
Gm2832 |
A |
G |
14: 41,003,726 (GRCm39) |
T186A |
|
Het |
Gm8246 |
T |
C |
14: 16,984,554 (GRCm39) |
E93G |
probably damaging |
Het |
Grid2ip |
C |
T |
5: 143,363,396 (GRCm39) |
T463M |
probably damaging |
Het |
Mael |
G |
A |
1: 166,029,257 (GRCm39) |
R389C |
probably benign |
Het |
Myo9a |
C |
A |
9: 59,791,850 (GRCm39) |
Q1818K |
probably benign |
Het |
Nwd1 |
A |
G |
8: 73,419,704 (GRCm39) |
D963G |
probably benign |
Het |
Or13c3 |
A |
G |
4: 52,856,490 (GRCm39) |
F8L |
probably benign |
Het |
Or2g1 |
T |
C |
17: 38,107,255 (GRCm39) |
S307P |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,678,731 (GRCm39) |
V895E |
probably damaging |
Het |
Pcna |
T |
C |
2: 132,093,193 (GRCm39) |
T185A |
probably benign |
Het |
Pip4k2c |
A |
G |
10: 127,042,530 (GRCm39) |
F108L |
probably damaging |
Het |
Pole |
T |
A |
5: 110,445,614 (GRCm39) |
S497T |
probably damaging |
Het |
Potefam3b |
G |
A |
8: 21,159,053 (GRCm39) |
V136I |
probably benign |
Het |
Ppp1r12c |
A |
G |
7: 4,485,887 (GRCm39) |
V653A |
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,577,627 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,764,284 (GRCm39) |
V3072E |
probably damaging |
Het |
Sh3bgr |
G |
A |
16: 96,025,792 (GRCm39) |
|
probably null |
Het |
Slc27a5 |
A |
C |
7: 12,723,296 (GRCm39) |
L550R |
probably benign |
Het |
Strip2 |
C |
T |
6: 29,956,815 (GRCm39) |
P815S |
probably benign |
Het |
Tars3 |
G |
T |
7: 65,294,673 (GRCm39) |
|
probably benign |
Het |
Tle5 |
T |
C |
10: 81,397,152 (GRCm39) |
|
probably null |
Het |
Tmem237 |
G |
T |
1: 59,146,613 (GRCm39) |
L337M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,555,506 (GRCm39) |
M30500V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,336,416 (GRCm39) |
F13S |
probably damaging |
Het |
Ugcg |
A |
C |
4: 59,207,794 (GRCm39) |
K44N |
probably benign |
Het |
Vmn2r39 |
A |
T |
7: 9,028,149 (GRCm39) |
H407Q |
probably damaging |
Het |
|
Other mutations in Ankrd31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R6001:Ankrd31
|
UTSW |
13 |
96,962,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Ankrd31
|
UTSW |
13 |
96,968,721 (GRCm39) |
missense |
probably benign |
0.00 |
R6035:Ankrd31
|
UTSW |
13 |
96,968,721 (GRCm39) |
missense |
probably benign |
0.00 |
R6273:Ankrd31
|
UTSW |
13 |
96,988,181 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6291:Ankrd31
|
UTSW |
13 |
97,014,746 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6387:Ankrd31
|
UTSW |
13 |
96,967,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R6608:Ankrd31
|
UTSW |
13 |
96,969,288 (GRCm39) |
missense |
probably damaging |
0.99 |
R6680:Ankrd31
|
UTSW |
13 |
96,967,117 (GRCm39) |
critical splice donor site |
probably null |
|
R6738:Ankrd31
|
UTSW |
13 |
97,040,635 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6860:Ankrd31
|
UTSW |
13 |
96,968,094 (GRCm39) |
missense |
probably benign |
0.01 |
R6988:Ankrd31
|
UTSW |
13 |
97,014,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R7305:Ankrd31
|
UTSW |
13 |
97,015,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R7586:Ankrd31
|
UTSW |
13 |
96,968,562 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7631:Ankrd31
|
UTSW |
13 |
97,015,462 (GRCm39) |
missense |
probably benign |
0.04 |
R7842:Ankrd31
|
UTSW |
13 |
96,957,966 (GRCm39) |
critical splice donor site |
probably null |
|
R7890:Ankrd31
|
UTSW |
13 |
96,968,379 (GRCm39) |
missense |
probably benign |
0.27 |
R7911:Ankrd31
|
UTSW |
13 |
97,015,608 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8052:Ankrd31
|
UTSW |
13 |
96,969,036 (GRCm39) |
missense |
probably benign |
0.07 |
R8133:Ankrd31
|
UTSW |
13 |
97,003,003 (GRCm39) |
critical splice donor site |
probably null |
|
R8430:Ankrd31
|
UTSW |
13 |
96,988,199 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8752:Ankrd31
|
UTSW |
13 |
96,916,879 (GRCm39) |
missense |
probably damaging |
0.99 |
R8767:Ankrd31
|
UTSW |
13 |
96,969,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Ankrd31
|
UTSW |
13 |
96,969,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Ankrd31
|
UTSW |
13 |
96,969,212 (GRCm39) |
missense |
probably damaging |
0.98 |
R8946:Ankrd31
|
UTSW |
13 |
97,046,037 (GRCm39) |
makesense |
probably null |
|
R9006:Ankrd31
|
UTSW |
13 |
96,967,104 (GRCm39) |
missense |
probably benign |
0.00 |
R9022:Ankrd31
|
UTSW |
13 |
96,962,655 (GRCm39) |
missense |
probably benign |
0.01 |
R9045:Ankrd31
|
UTSW |
13 |
96,968,034 (GRCm39) |
nonsense |
probably null |
|
R9098:Ankrd31
|
UTSW |
13 |
96,916,879 (GRCm39) |
missense |
probably damaging |
0.97 |
R9115:Ankrd31
|
UTSW |
13 |
96,940,773 (GRCm39) |
critical splice donor site |
probably null |
|
R9202:Ankrd31
|
UTSW |
13 |
97,015,383 (GRCm39) |
nonsense |
probably null |
|
R9211:Ankrd31
|
UTSW |
13 |
97,029,551 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9297:Ankrd31
|
UTSW |
13 |
97,015,085 (GRCm39) |
missense |
probably benign |
0.04 |
R9318:Ankrd31
|
UTSW |
13 |
97,015,085 (GRCm39) |
missense |
probably benign |
0.04 |
R9377:Ankrd31
|
UTSW |
13 |
97,014,733 (GRCm39) |
missense |
probably benign |
0.10 |
R9454:Ankrd31
|
UTSW |
13 |
96,916,846 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9454:Ankrd31
|
UTSW |
13 |
96,916,842 (GRCm39) |
missense |
probably damaging |
0.97 |
R9538:Ankrd31
|
UTSW |
13 |
97,009,193 (GRCm39) |
missense |
probably benign |
0.24 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGAATTAAAGCTAACCATGG -3'
(R):5'- CTGACCATCTGATGAATCCAGGAC -3'
Sequencing Primer
(F):5'- AATTTTGATAGACAAGAACCAGGAC -3'
(R):5'- CCAGGACATGGGTATCTGAC -3'
|
Posted On |
2021-04-30 |