Incidental Mutation 'R9761:Ankrd35'
| ID |
733001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd35
|
| Ensembl Gene |
ENSMUSG00000038354 |
| Gene Name |
ankyrin repeat domain 35 |
| Synonyms |
4732436F15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96591733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 673
(T673I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048427]
[ENSMUST00000122960]
|
| AlphaFold |
E9Q9D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048427
AA Change: T673I
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: T673I
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
53 |
82 |
4.03e-5 |
SMART |
|
ANK
|
86 |
115 |
6.46e-4 |
SMART |
|
ANK
|
119 |
148 |
4.36e-1 |
SMART |
|
ANK
|
152 |
181 |
1.4e-4 |
SMART |
|
ANK
|
185 |
214 |
2.25e-3 |
SMART |
|
ANK
|
218 |
247 |
6.24e2 |
SMART |
|
coiled coil region
|
294 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
536 |
N/A |
INTRINSIC |
|
coiled coil region
|
606 |
653 |
N/A |
INTRINSIC |
|
coiled coil region
|
729 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
|
coiled coil region
|
847 |
956 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122960
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,544,854 (GRCm39) |
T1411I |
possibly damaging |
Het |
| Ablim3 |
C |
A |
18: 61,952,885 (GRCm39) |
R393L |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,200 (GRCm39) |
D273G |
probably benign |
Het |
| Atp11b |
A |
T |
3: 35,903,607 (GRCm39) |
K1114* |
probably null |
Het |
| Atp11b |
C |
T |
3: 35,903,621 (GRCm39) |
P947L |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,903,616 (GRCm39) |
D1117Y |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,550,844 (GRCm39) |
H243Q |
unknown |
Het |
| Dgkh |
A |
T |
14: 78,889,163 (GRCm39) |
S111R |
probably damaging |
Het |
| Dpp6 |
G |
A |
5: 27,869,743 (GRCm39) |
R505K |
probably benign |
Het |
| Elp4 |
C |
T |
2: 105,624,904 (GRCm39) |
G330S |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,994 (GRCm39) |
N5909I |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,729,064 (GRCm39) |
M792V |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,227 (GRCm39) |
L256P |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,751,275 (GRCm39) |
M1006I |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,530,011 (GRCm39) |
S514L |
probably damaging |
Het |
| Helz |
C |
A |
11: 107,560,874 (GRCm39) |
S1312* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,868,625 (GRCm39) |
I60V |
probably damaging |
Het |
| Ift81 |
A |
C |
5: 122,729,146 (GRCm39) |
D395E |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,563,031 (GRCm39) |
N123S |
probably benign |
Het |
| Klk1b1 |
C |
A |
7: 43,618,739 (GRCm39) |
H39N |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,839,779 (GRCm39) |
N46I |
possibly damaging |
Het |
| Klrg2 |
C |
A |
6: 38,607,287 (GRCm39) |
W241L |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,774,934 (GRCm39) |
N3S |
probably benign |
Het |
| Lrrc2 |
A |
G |
9: 110,809,942 (GRCm39) |
D326G |
possibly damaging |
Het |
| Mansc1 |
A |
T |
6: 134,587,004 (GRCm39) |
L391Q |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,453 (GRCm39) |
R292H |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,119,754 (GRCm39) |
T59A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,648,057 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,934 (GRCm39) |
F159S |
probably benign |
Het |
| Or4f53 |
C |
A |
2: 111,087,606 (GRCm39) |
L49I |
probably benign |
Het |
| Or4f53 |
T |
G |
2: 111,087,607 (GRCm39) |
L49R |
possibly damaging |
Het |
| Or8g26 |
T |
C |
9: 39,096,146 (GRCm39) |
I221T |
probably damaging |
Het |
| Or8k20 |
C |
T |
2: 86,106,150 (GRCm39) |
R227Q |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Poc1b |
C |
T |
10: 98,965,356 (GRCm39) |
S95F |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,049,998 (GRCm39) |
I104V |
unknown |
Het |
| Prkar1b |
C |
A |
5: 139,092,410 (GRCm39) |
V136L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,030 (GRCm39) |
I1351M |
probably damaging |
Het |
| Serpina3c |
G |
T |
12: 104,118,089 (GRCm39) |
A83D |
probably damaging |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,318,190 (GRCm39) |
|
probably null |
Het |
| Ticrr |
A |
G |
7: 79,345,313 (GRCm39) |
E1726G |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,623,136 (GRCm39) |
H892Q |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,903,987 (GRCm39) |
T1043A |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,519,218 (GRCm39) |
V100D |
probably damaging |
Het |
| Zim1 |
G |
C |
7: 6,680,771 (GRCm39) |
H297Q |
probably damaging |
Het |
|
| Other mutations in Ankrd35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Ankrd35
|
APN |
3 |
96,590,350 (GRCm39) |
splice site |
probably null |
|
|
IGL00896:Ankrd35
|
APN |
3 |
96,591,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Ankrd35
|
APN |
3 |
96,592,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01837:Ankrd35
|
APN |
3 |
96,587,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Ankrd35
|
APN |
3 |
96,588,388 (GRCm39) |
splice site |
probably null |
|
|
IGL02819:Ankrd35
|
APN |
3 |
96,597,524 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02994:Ankrd35
|
APN |
3 |
96,590,307 (GRCm39) |
splice site |
probably benign |
|
|
IGL03083:Ankrd35
|
APN |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Ankrd35
|
APN |
3 |
96,591,373 (GRCm39) |
missense |
probably benign |
|
|
FR4304:Ankrd35
|
UTSW |
3 |
96,591,163 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4342:Ankrd35
|
UTSW |
3 |
96,590,831 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Ankrd35
|
UTSW |
3 |
96,591,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0003:Ankrd35
|
UTSW |
3 |
96,591,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Ankrd35
|
UTSW |
3 |
96,591,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0551:Ankrd35
|
UTSW |
3 |
96,591,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1420:Ankrd35
|
UTSW |
3 |
96,592,054 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1455:Ankrd35
|
UTSW |
3 |
96,585,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Ankrd35
|
UTSW |
3 |
96,586,564 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3522:Ankrd35
|
UTSW |
3 |
96,592,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3605:Ankrd35
|
UTSW |
3 |
96,589,497 (GRCm39) |
nonsense |
probably null |
|
|
R4166:Ankrd35
|
UTSW |
3 |
96,586,471 (GRCm39) |
splice site |
probably null |
|
|
R4651:Ankrd35
|
UTSW |
3 |
96,591,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4668:Ankrd35
|
UTSW |
3 |
96,586,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ankrd35
|
UTSW |
3 |
96,591,438 (GRCm39) |
missense |
probably benign |
|
|
R4921:Ankrd35
|
UTSW |
3 |
96,592,140 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4953:Ankrd35
|
UTSW |
3 |
96,590,989 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5180:Ankrd35
|
UTSW |
3 |
96,587,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Ankrd35
|
UTSW |
3 |
96,592,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ankrd35
|
UTSW |
3 |
96,592,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5613:Ankrd35
|
UTSW |
3 |
96,590,334 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6165:Ankrd35
|
UTSW |
3 |
96,590,623 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6413:Ankrd35
|
UTSW |
3 |
96,592,129 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6711:Ankrd35
|
UTSW |
3 |
96,590,784 (GRCm39) |
nonsense |
probably null |
|
|
R6834:Ankrd35
|
UTSW |
3 |
96,590,599 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6841:Ankrd35
|
UTSW |
3 |
96,577,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Ankrd35
|
UTSW |
3 |
96,590,650 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7396:Ankrd35
|
UTSW |
3 |
96,590,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Ankrd35
|
UTSW |
3 |
96,592,104 (GRCm39) |
missense |
not run |
|
|
R7815:Ankrd35
|
UTSW |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Ankrd35
|
UTSW |
3 |
96,592,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ankrd35
|
UTSW |
3 |
96,586,997 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8318:Ankrd35
|
UTSW |
3 |
96,592,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Ankrd35
|
UTSW |
3 |
96,589,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8527:Ankrd35
|
UTSW |
3 |
96,589,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Ankrd35
|
UTSW |
3 |
96,589,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Ankrd35
|
UTSW |
3 |
96,586,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Ankrd35
|
UTSW |
3 |
96,587,003 (GRCm39) |
nonsense |
probably null |
|
|
R9029:Ankrd35
|
UTSW |
3 |
96,591,460 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9229:Ankrd35
|
UTSW |
3 |
96,592,215 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9488:Ankrd35
|
UTSW |
3 |
96,589,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9669:Ankrd35
|
UTSW |
3 |
96,587,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ankrd35
|
UTSW |
3 |
96,591,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGAAAAGAACAGGCCTTAG -3'
(R):5'- TATCCACCAGGGTGCTGATG -3'
Sequencing Primer
(F):5'- GTGTCAGCTTTGAGACTGAGCAATAG -3'
(R):5'- TAGGCATTTCCACAGTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation