Incidental Mutation 'R6680:Ankrd31'
| ID |
527464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd31
|
| Ensembl Gene |
ENSMUSG00000109561 |
| Gene Name |
ankyrin repeat domain 31 |
| Synonyms |
|
| MMRRC Submission |
044799-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
96884797-97046302 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 96967117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207464]
[ENSMUST00000208758]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000207464
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208758
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,098,959 (GRCm39) |
K155R |
probably benign |
Het |
| AW011738 |
A |
G |
4: 156,288,182 (GRCm39) |
|
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,676,536 (GRCm39) |
D77G |
probably benign |
Het |
| Ccl3 |
A |
G |
11: 83,539,132 (GRCm39) |
S76P |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,857 (GRCm39) |
L286P |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,684 (GRCm39) |
Y463* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,395,949 (GRCm39) |
T1915A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,293,048 (GRCm39) |
Q4162R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,331,859 (GRCm39) |
R293H |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,025,672 (GRCm39) |
I143V |
possibly damaging |
Het |
| Mrc2 |
C |
T |
11: 105,216,579 (GRCm39) |
R123C |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,824,540 (GRCm39) |
K223R |
probably null |
Het |
| Nudt16l2 |
A |
G |
9: 105,020,773 (GRCm39) |
S163P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,342,578 (GRCm39) |
|
probably null |
Het |
| Omd |
T |
C |
13: 49,743,004 (GRCm39) |
V18A |
possibly damaging |
Het |
| Or51a39 |
T |
A |
7: 102,363,522 (GRCm39) |
I33F |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,954 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or8k53 |
T |
A |
2: 86,177,589 (GRCm39) |
I174F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,974,603 (GRCm39) |
S1384G |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,078,757 (GRCm39) |
S311P |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,076,218 (GRCm39) |
E765K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,437 (GRCm39) |
I138K |
probably damaging |
Het |
| Tbx15 |
T |
A |
3: 99,220,389 (GRCm39) |
Y54* |
probably null |
Het |
| Tulp4 |
T |
G |
17: 6,189,312 (GRCm39) |
W45G |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,935,618 (GRCm39) |
V348A |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,972,410 (GRCm39) |
I439T |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,536,920 (GRCm39) |
Y534* |
probably null |
Het |
| Zfp579 |
A |
G |
7: 4,996,501 (GRCm39) |
L470P |
probably damaging |
Het |
| Zfp598 |
A |
G |
17: 24,897,660 (GRCm39) |
N327S |
probably benign |
Het |
| Zscan4d |
A |
T |
7: 10,896,366 (GRCm39) |
S335T |
possibly 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 |
|
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 |
|
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'- CTCCTCCCCGAAGCTTATAATG -3'
(R):5'- CACTAAGAGGCTGGAACCTTC -3'
Sequencing Primer
(F):5'- TGAGTACAAACCTGCTGGC -3'
(R):5'- AAGAGGCTGGAACCTTCTGCTATC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation