Incidental Mutation 'R9772:Ankdd1a'
| ID |
733485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankdd1a
|
| Ensembl Gene |
ENSMUSG00000066510 |
| Gene Name |
ankyrin repeat and death domain containing 1A |
| Synonyms |
LOC384945, EG330963 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R9772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65395752-65427475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65408749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 506
(C506R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061766]
[ENSMUST00000217646]
|
| AlphaFold |
F8VQ39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061766
AA Change: C477R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: C477R
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
4 |
33 |
1.31e3 |
SMART |
|
ANK
|
37 |
66 |
2.1e-3 |
SMART |
|
ANK
|
70 |
99 |
6.26e-2 |
SMART |
|
ANK
|
103 |
132 |
8.72e-1 |
SMART |
|
ANK
|
138 |
167 |
5.09e-2 |
SMART |
|
ANK
|
171 |
200 |
4.03e-5 |
SMART |
|
ANK
|
204 |
233 |
5.32e-5 |
SMART |
|
ANK
|
237 |
268 |
8.72e-1 |
SMART |
|
ANK
|
270 |
299 |
8.99e-3 |
SMART |
|
ANK
|
303 |
332 |
1.23e0 |
SMART |
|
ANK
|
336 |
364 |
1.4e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217646
AA Change: C506R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
T |
2: 26,985,666 (GRCm39) |
I517F |
probably benign |
Het |
| Arid3c |
T |
C |
4: 41,724,723 (GRCm39) |
N371D |
probably damaging |
Het |
| Ccdc117 |
C |
T |
11: 5,492,042 (GRCm39) |
R6Q |
possibly damaging |
Het |
| Ccdc78 |
C |
T |
17: 26,005,665 (GRCm39) |
R26* |
probably null |
Het |
| Clca4a |
C |
A |
3: 144,676,422 (GRCm39) |
W86L |
probably damaging |
Het |
| Clrn2 |
C |
T |
5: 45,611,369 (GRCm39) |
Q73* |
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,754,117 (GRCm39) |
D478G |
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,792,348 (GRCm39) |
I199L |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,786,522 (GRCm39) |
V90A |
probably benign |
Het |
| Dydc1 |
A |
G |
14: 40,804,248 (GRCm39) |
E90G |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,499,756 (GRCm39) |
S795T |
probably benign |
Het |
| Gm13090 |
G |
T |
4: 151,175,565 (GRCm39) |
A102S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,869,425 (GRCm39) |
S87P |
unknown |
Het |
| Mesp2 |
A |
G |
7: 79,461,348 (GRCm39) |
I224M |
possibly damaging |
Het |
| Mettl25 |
T |
C |
10: 105,633,127 (GRCm39) |
R439G |
probably benign |
Het |
| Mettl27 |
C |
T |
5: 134,962,390 (GRCm39) |
R63W |
possibly damaging |
Het |
| Nap1l1 |
C |
T |
10: 111,325,911 (GRCm39) |
R77* |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,795,868 (GRCm39) |
I48T |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,792,883 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
G |
11: 97,113,983 (GRCm39) |
I631T |
probably benign |
Het |
| Or4c105 |
G |
A |
2: 88,647,958 (GRCm39) |
V148I |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,964 (GRCm39) |
C241* |
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,093,138 (GRCm39) |
L210Q |
probably damaging |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,855 (GRCm39) |
I458F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,785 (GRCm39) |
E4347G |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,657,048 (GRCm39) |
I1911T |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,417 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sfr1 |
G |
T |
19: 47,722,019 (GRCm39) |
C145F |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,551,175 (GRCm39) |
Y230N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,818,849 (GRCm39) |
V89A |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 56,990,765 (GRCm39) |
I671T |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,075 (GRCm39) |
V184I |
probably benign |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
C |
17: 78,932,398 (GRCm39) |
T502P |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,923 (GRCm39) |
G594R |
probably damaging |
Het |
|
| Other mutations in Ankdd1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01315:Ankdd1a
|
APN |
9 |
65,415,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Ankdd1a
|
APN |
9 |
65,411,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01932:Ankdd1a
|
APN |
9 |
65,414,893 (GRCm39) |
splice site |
probably benign |
|
|
IGL02150:Ankdd1a
|
APN |
9 |
65,420,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03243:Ankdd1a
|
APN |
9 |
65,408,752 (GRCm39) |
missense |
probably benign |
0.28 |
|
PIT4618001:Ankdd1a
|
UTSW |
9 |
65,414,932 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0137:Ankdd1a
|
UTSW |
9 |
65,417,610 (GRCm39) |
missense |
probably null |
0.26 |
|
R0302:Ankdd1a
|
UTSW |
9 |
65,416,924 (GRCm39) |
splice site |
probably benign |
|
|
R0980:Ankdd1a
|
UTSW |
9 |
65,424,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Ankdd1a
|
UTSW |
9 |
65,411,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3887:Ankdd1a
|
UTSW |
9 |
65,409,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Ankdd1a
|
UTSW |
9 |
65,410,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Ankdd1a
|
UTSW |
9 |
65,410,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Ankdd1a
|
UTSW |
9 |
65,411,472 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5394:Ankdd1a
|
UTSW |
9 |
65,412,496 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5542:Ankdd1a
|
UTSW |
9 |
65,411,472 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5594:Ankdd1a
|
UTSW |
9 |
65,409,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Ankdd1a
|
UTSW |
9 |
65,416,978 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6217:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6294:Ankdd1a
|
UTSW |
9 |
65,427,446 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6300:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6301:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6305:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6306:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6307:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6312:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6313:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6314:Ankdd1a
|
UTSW |
9 |
65,415,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6413:Ankdd1a
|
UTSW |
9 |
65,417,654 (GRCm39) |
missense |
probably benign |
|
|
R6431:Ankdd1a
|
UTSW |
9 |
65,424,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6477:Ankdd1a
|
UTSW |
9 |
65,409,494 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6991:Ankdd1a
|
UTSW |
9 |
65,415,957 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7260:Ankdd1a
|
UTSW |
9 |
65,411,834 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7586:Ankdd1a
|
UTSW |
9 |
65,409,466 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8680:Ankdd1a
|
UTSW |
9 |
65,412,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Ankdd1a
|
UTSW |
9 |
65,415,422 (GRCm39) |
splice site |
probably benign |
|
|
R9562:Ankdd1a
|
UTSW |
9 |
65,411,452 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9565:Ankdd1a
|
UTSW |
9 |
65,411,452 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
X0064:Ankdd1a
|
UTSW |
9 |
65,410,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAAAGGGCCACACTCCTG -3'
(R):5'- TTGGCTATGAGGCTACAGGG -3'
Sequencing Primer
(F):5'- GACAGGATGACCCAGAAAACCTAG -3'
(R):5'- GCTACAGGGAAAATAGTTCTTGCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation