Incidental Mutation 'R0980:Ankdd1a'
| ID |
97013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankdd1a
|
| Ensembl Gene |
ENSMUSG00000066510 |
| Gene Name |
ankyrin repeat and death domain containing 1A |
| Synonyms |
LOC384945, EG330963 |
| MMRRC Submission |
039106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R0980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65395752-65427475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65424253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 20
(H20R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061766]
[ENSMUST00000217646]
|
| AlphaFold |
F8VQ39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061766
AA Change: H10R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: H10R
| 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 |
noncoding transcript
Transcript: ENSMUST00000216282
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217646
AA Change: H20R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
| Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
G |
17: 8,474,846 (GRCm39) |
E17G |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,100,720 (GRCm39) |
T605A |
probably damaging |
Het |
| Cnga4 |
C |
A |
7: 105,057,213 (GRCm39) |
P439T |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
| Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
| Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
| Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,827 (GRCm39) |
E443G |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
| Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
| Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
| Rexo5 |
T |
C |
7: 119,423,035 (GRCm39) |
V289A |
probably damaging |
Het |
| Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
| Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
| Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
| Tc2n |
T |
A |
12: 101,644,835 (GRCm39) |
K264* |
probably null |
Het |
| Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly 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 |
|
|
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 |
|
R9772:Ankdd1a
|
UTSW |
9 |
65,408,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ankdd1a
|
UTSW |
9 |
65,410,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCTGGCTTGGAATCCTGAC -3'
(R):5'- AGGGTGGCACATTAAATCCACACAG -3'
Sequencing Primer
(F):5'- TCAGACCAGTTCAGGCAATG -3'
(R):5'- TCCACACAGTCATTCAACCTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation