Incidental Mutation 'R3605:Ankrd35'
| ID |
269042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd35
|
| Ensembl Gene |
ENSMUSG00000038354 |
| Gene Name |
ankyrin repeat domain 35 |
| Synonyms |
4732436F15Rik |
| MMRRC Submission |
040670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 96589497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 239
(Q239*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048427]
[ENSMUST00000122960]
|
| AlphaFold |
E9Q9D8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048427
AA Change: Q239*
|
| SMART Domains |
Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: Q239*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130429
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
| Art2b |
T |
A |
7: 101,229,152 (GRCm39) |
N249I |
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,609,939 (GRCm39) |
T53A |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,077 (GRCm39) |
T1016S |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,943,299 (GRCm39) |
H424R |
possibly damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,503,287 (GRCm39) |
N114Y |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,815,253 (GRCm39) |
V3662A |
probably benign |
Het |
| Gabra6 |
T |
A |
11: 42,205,777 (GRCm39) |
I359F |
probably benign |
Het |
| Gal |
A |
G |
19: 3,464,026 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5814 |
G |
T |
17: 47,721,430 (GRCm39) |
R48L |
probably damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,788 (GRCm39) |
G584D |
unknown |
Het |
| Iqgap1 |
T |
C |
7: 80,373,537 (GRCm39) |
D1484G |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,974,873 (GRCm39) |
C93Y |
unknown |
Het |
| Mnt |
T |
A |
11: 74,727,746 (GRCm39) |
S211T |
possibly damaging |
Het |
| Mtdh |
T |
A |
15: 34,114,258 (GRCm39) |
|
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,399 (GRCm39) |
W47R |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,168 (GRCm39) |
I70F |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,846 (GRCm39) |
I211T |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,768,395 (GRCm39) |
D411G |
probably damaging |
Het |
| Sapcd1 |
A |
G |
17: 35,246,781 (GRCm39) |
F36L |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,066,542 (GRCm39) |
S3181T |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,938,960 (GRCm39) |
T314I |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,894,467 (GRCm39) |
C685* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,803 (GRCm39) |
V181A |
possibly damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,788 (GRCm39) |
|
probably null |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,508 (GRCm39) |
L151* |
probably null |
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 |
|
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 |
|
R9761:Ankrd35
|
UTSW |
3 |
96,591,733 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Ankrd35
|
UTSW |
3 |
96,591,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGAGTGGAATTTCTGAAACC -3'
(R):5'- TGTTCCCAAAATGCAGCAGC -3'
Sequencing Primer
(F):5'- TGAGTGGAATTTCTGAAACCATGAG -3'
(R):5'- GCAGCACTGTAAAGCCTTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation