Incidental Mutation 'R9202:Ankrd31'
| ID |
698286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd31
|
| Ensembl Gene |
ENSMUSG00000109561 |
| Gene Name |
ankyrin repeat domain 31 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
96884797-97046302 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 97015383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1551
(Q1551*)
|
| 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
AA Change: Q1401*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208758
AA Change: Q1551*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
| Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
| Asphd1 |
T |
A |
7: 126,547,934 (GRCm39) |
Y123F |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep72 |
G |
T |
13: 74,198,420 (GRCm39) |
T320K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
T |
A |
1: 190,744,351 (GRCm39) |
Y399F |
probably benign |
Het |
| Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,868,597 (GRCm39) |
|
probably null |
Het |
| Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
| Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
| Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
| Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
| Zbtb1 |
G |
T |
12: 76,433,784 (GRCm39) |
R590L |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
| Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
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 |
|
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 |
|
|
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'- GCTACAGTCAAAGGCTGTGG -3'
(R):5'- TCAAGTCTTTCAGCTGCACAG -3'
Sequencing Primer
(F):5'- TGATAGTTCTGCACTAACTGGCAC -3'
(R):5'- CTGCACAGCTTTCTTTCTGGGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation