Incidental Mutation 'R8430:Ankrd31'
| ID |
653719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd31
|
| Ensembl Gene |
ENSMUSG00000109561 |
| Gene Name |
ankyrin repeat domain 31 |
| Synonyms |
|
| MMRRC Submission |
067775-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
96884797-97046302 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96988199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1071
(K1071E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207464]
[ENSMUST00000208758]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207464
AA Change: K921E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208758
AA Change: K1071E
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
| Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
| Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
| AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
| Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
| Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
| Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
| Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
| L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
| Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
| Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
| Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
| Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
| Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
| Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
| Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
probably benign |
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 |
|
|
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 |
|
R8793:Ankrd31
|
UTSW |
13 |
96,968,221 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CCAGTGTTTCCAGGAGTTTTATC -3'
(R):5'- ACCCAGTATCAAAATTAGGGGC -3'
Sequencing Primer
(F):5'- GTGACTCCCTACATAGTGATGGTC -3'
(R):5'- CCCAGTATCAAAATTAGGGGCAAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation