Incidental Mutation 'R6608:Ankrd31'
| ID |
526435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd31
|
| Ensembl Gene |
ENSMUSG00000109561 |
| Gene Name |
ankyrin repeat domain 31 |
| Synonyms |
|
| MMRRC Submission |
044731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6608 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
96884797-97046302 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96969288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 975
(Y975C)
|
| 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: Y825C
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208758
AA Change: Y975C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,770,555 (GRCm39) |
T571A |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,501,911 (GRCm39) |
Y317N |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,668,348 (GRCm39) |
F470S |
probably damaging |
Het |
| AK157302 |
T |
C |
13: 21,679,794 (GRCm39) |
S107P |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,096,705 (GRCm39) |
Y267H |
probably benign |
Het |
| Cdan1 |
A |
C |
2: 120,557,161 (GRCm39) |
I555R |
possibly damaging |
Het |
| Clns1a |
A |
G |
7: 97,365,675 (GRCm39) |
T226A |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,948,628 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
C |
A |
9: 20,685,315 (GRCm39) |
V1454L |
unknown |
Het |
| Coq6 |
G |
A |
12: 84,418,922 (GRCm39) |
V309I |
probably benign |
Het |
| Decr2 |
C |
T |
17: 26,302,858 (GRCm39) |
V173M |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,843,252 (GRCm39) |
G363S |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,564,277 (GRCm39) |
D1927E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,266,731 (GRCm39) |
|
probably null |
Het |
| Gm1979 |
T |
A |
5: 26,206,094 (GRCm39) |
H162L |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,487,758 (GRCm39) |
S486T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,917,093 (GRCm39) |
N1759D |
probably damaging |
Het |
| Man1b1 |
T |
A |
2: 25,233,263 (GRCm39) |
V212E |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,578 (GRCm39) |
L936S |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,300,090 (GRCm39) |
T1648I |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,370 (GRCm39) |
V78A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,454 (GRCm39) |
V113A |
probably benign |
Het |
| Or5d40 |
A |
G |
2: 88,016,049 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Or6n2 |
A |
G |
1: 173,897,295 (GRCm39) |
M144V |
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,454,811 (GRCm39) |
I110V |
possibly damaging |
Het |
| Pcdhb5 |
A |
G |
18: 37,454,876 (GRCm39) |
T419A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,160,875 (GRCm39) |
D838G |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,389,934 (GRCm39) |
N230I |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,650,051 (GRCm39) |
S540F |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,433,435 (GRCm39) |
D417G |
probably damaging |
Het |
| Serpina3c |
A |
T |
12: 104,115,883 (GRCm39) |
N220K |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,091 (GRCm39) |
L495P |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,132,715 (GRCm39) |
K194N |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,066,782 (GRCm39) |
M105T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Usp10 |
C |
T |
8: 120,675,161 (GRCm39) |
R461W |
probably benign |
Het |
| Wsb1 |
C |
T |
11: 79,131,188 (GRCm39) |
E403K |
probably benign |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zp1 |
C |
T |
19: 10,896,344 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,803,652 (GRCm39) |
F2466L |
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 |
|
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 |
|
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'- AAGTCCTTTAGTAAATCAGGCTGG -3'
(R):5'- AATCATGGCTCAGGTGATGCC -3'
Sequencing Primer
(F):5'- AATCAGGCTGGTATACATAGTTTGG -3'
(R):5'- TCAGGTGATGCCCTCATGC -3'
|
| Posted On |
2018-06-25 |
Incidental Mutation