Incidental Mutation 'R8901:Ankrd27'
| ID |
700867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
068758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8901 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 35332243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000190503]
[ENSMUST00000206472]
|
| AlphaFold |
Q3UMR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040844
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
2e-8 |
BLAST |
|
VPS9
|
264 |
380 |
1.92e-7 |
SMART |
|
Blast:ANK
|
393 |
418 |
8e-9 |
BLAST |
|
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
|
ANK
|
462 |
491 |
8.65e-5 |
SMART |
|
ANK
|
495 |
524 |
1.8e-2 |
SMART |
|
ANK
|
528 |
558 |
2.45e-4 |
SMART |
|
ANK
|
564 |
593 |
6.46e-4 |
SMART |
|
low complexity region
|
638 |
658 |
N/A |
INTRINSIC |
|
ANK
|
742 |
774 |
8.39e-3 |
SMART |
|
ANK
|
775 |
804 |
5.93e-3 |
SMART |
|
ANK
|
808 |
837 |
4.46e-7 |
SMART |
|
ANK
|
841 |
870 |
2.81e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190503
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
2e-8 |
BLAST |
|
VPS9
|
264 |
380 |
1.92e-7 |
SMART |
|
Blast:ANK
|
393 |
418 |
7e-9 |
BLAST |
|
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
|
ANK
|
462 |
491 |
8.65e-5 |
SMART |
|
ANK
|
495 |
524 |
1.8e-2 |
SMART |
|
ANK
|
528 |
558 |
2.45e-4 |
SMART |
|
ANK
|
564 |
593 |
6.46e-4 |
SMART |
|
low complexity region
|
638 |
658 |
N/A |
INTRINSIC |
|
ANK
|
687 |
719 |
8.39e-3 |
SMART |
|
ANK
|
720 |
749 |
5.93e-3 |
SMART |
|
ANK
|
753 |
782 |
4.46e-7 |
SMART |
|
ANK
|
786 |
815 |
2.81e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206472
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprm |
T |
C |
11: 66,932,564 (GRCm39) |
N115S |
probably damaging |
Het |
| Agbl5 |
T |
C |
5: 31,048,435 (GRCm39) |
V169A |
possibly damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,830 (GRCm39) |
|
probably benign |
Het |
| Brat1 |
T |
A |
5: 140,698,608 (GRCm39) |
M260K |
probably benign |
Het |
| Btbd6 |
G |
T |
12: 112,940,220 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,394,248 (GRCm39) |
G503S |
probably benign |
Het |
| Ces1e |
C |
T |
8: 93,937,103 (GRCm39) |
D323N |
probably damaging |
Het |
| Chrna5 |
T |
C |
9: 54,911,737 (GRCm39) |
F75S |
probably damaging |
Het |
| Clmn |
A |
T |
12: 104,747,211 (GRCm39) |
S779T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,637,156 (GRCm39) |
M1011K |
probably benign |
Het |
| Col11a2 |
A |
T |
17: 34,262,254 (GRCm39) |
I164F |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,183,643 (GRCm39) |
K231T |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,365,715 (GRCm39) |
M2637R |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Eea1 |
T |
G |
10: 95,825,431 (GRCm39) |
I42R |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,932,805 (GRCm39) |
I207N |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,701,851 (GRCm39) |
T320A |
probably benign |
Het |
| Fhdc1 |
T |
A |
3: 84,352,874 (GRCm39) |
M784L |
probably benign |
Het |
| Gm21411 |
G |
A |
4: 146,982,171 (GRCm39) |
Q10* |
probably null |
Het |
| Gnao1 |
T |
C |
8: 94,694,687 (GRCm39) |
M70T |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,324,389 (GRCm39) |
F25S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,498,252 (GRCm39) |
D220E |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,801,809 (GRCm39) |
L339R |
probably damaging |
Het |
| Impg2 |
A |
T |
16: 56,072,528 (GRCm39) |
D320V |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,351,630 (GRCm39) |
L565Q |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,457,561 (GRCm39) |
Q67L |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,043 (GRCm39) |
F99S |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,063,030 (GRCm39) |
L214Q |
probably damaging |
Het |
| Lix1l |
C |
A |
3: 96,508,745 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
C |
T |
1: 162,373,814 (GRCm39) |
V95I |
possibly damaging |
Het |
| Nod2 |
C |
T |
8: 89,390,437 (GRCm39) |
T226M |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,685 (GRCm39) |
W1090R |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,035 (GRCm39) |
D19V |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,332,400 (GRCm39) |
V481F |
|
Het |
| Polr1b |
T |
A |
2: 128,967,595 (GRCm39) |
V996E |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,991,141 (GRCm39) |
R1027W |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,343,677 (GRCm39) |
I326F |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,305 (GRCm39) |
D298G |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Scn3a |
C |
T |
2: 65,352,252 (GRCm39) |
V353M |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,299,114 (GRCm39) |
|
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,646,799 (GRCm39) |
V19A |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,624,939 (GRCm39) |
S29P |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,737,975 (GRCm39) |
F508L |
possibly damaging |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,948,028 (GRCm39) |
R291L |
probably damaging |
Het |
| Tas2r114 |
T |
A |
6: 131,666,914 (GRCm39) |
N38I |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,557,184 (GRCm39) |
N948K |
probably damaging |
Het |
| Tmem115 |
A |
G |
9: 107,411,993 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,818,146 (GRCm39) |
D175N |
probably benign |
Het |
| Txk |
T |
A |
5: 72,858,050 (GRCm39) |
Y398F |
probably damaging |
Het |
| Wdr36 |
C |
A |
18: 32,980,013 (GRCm39) |
T246K |
probably damaging |
Het |
| Wdr43 |
A |
T |
17: 71,932,461 (GRCm39) |
R113S |
probably benign |
Het |
| Ybx1 |
T |
C |
4: 119,138,785 (GRCm39) |
Y239C |
probably damaging |
Het |
|
| Other mutations in Ankrd27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02021:Ankrd27
|
APN |
7 |
35,313,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02205:Ankrd27
|
APN |
7 |
35,316,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02372:Ankrd27
|
APN |
7 |
35,332,461 (GRCm39) |
splice site |
probably null |
|
|
IGL02629:Ankrd27
|
APN |
7 |
35,325,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03394:Ankrd27
|
APN |
7 |
35,306,523 (GRCm39) |
splice site |
probably null |
|
|
deep_blue
|
UTSW |
7 |
35,307,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
Rapture
|
UTSW |
7 |
35,302,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0008:Ankrd27
|
UTSW |
7 |
35,303,125 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0008:Ankrd27
|
UTSW |
7 |
35,303,125 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0233:Ankrd27
|
UTSW |
7 |
35,300,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ankrd27
|
UTSW |
7 |
35,300,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Ankrd27
|
UTSW |
7 |
35,318,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Ankrd27
|
UTSW |
7 |
35,318,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Ankrd27
|
UTSW |
7 |
35,318,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0373:Ankrd27
|
UTSW |
7 |
35,337,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Ankrd27
|
UTSW |
7 |
35,307,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Ankrd27
|
UTSW |
7 |
35,307,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Ankrd27
|
UTSW |
7 |
35,301,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1394:Ankrd27
|
UTSW |
7 |
35,315,294 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1395:Ankrd27
|
UTSW |
7 |
35,315,294 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1493:Ankrd27
|
UTSW |
7 |
35,307,790 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1648:Ankrd27
|
UTSW |
7 |
35,303,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1664:Ankrd27
|
UTSW |
7 |
35,306,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Ankrd27
|
UTSW |
7 |
35,313,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1717:Ankrd27
|
UTSW |
7 |
35,327,871 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1919:Ankrd27
|
UTSW |
7 |
35,332,410 (GRCm39) |
missense |
probably benign |
|
|
R1956:Ankrd27
|
UTSW |
7 |
35,303,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Ankrd27
|
UTSW |
7 |
35,315,265 (GRCm39) |
unclassified |
probably benign |
|
|
R3000:Ankrd27
|
UTSW |
7 |
35,307,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Ankrd27
|
UTSW |
7 |
35,327,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Ankrd27
|
UTSW |
7 |
35,337,659 (GRCm39) |
missense |
probably benign |
|
|
R4838:Ankrd27
|
UTSW |
7 |
35,291,231 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4896:Ankrd27
|
UTSW |
7 |
35,307,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Ankrd27
|
UTSW |
7 |
35,332,417 (GRCm39) |
missense |
probably benign |
|
|
R5004:Ankrd27
|
UTSW |
7 |
35,307,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Ankrd27
|
UTSW |
7 |
35,327,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5182:Ankrd27
|
UTSW |
7 |
35,327,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Ankrd27
|
UTSW |
7 |
35,315,351 (GRCm39) |
nonsense |
probably null |
|
|
R5458:Ankrd27
|
UTSW |
7 |
35,291,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6293:Ankrd27
|
UTSW |
7 |
35,307,885 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6341:Ankrd27
|
UTSW |
7 |
35,326,828 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6721:Ankrd27
|
UTSW |
7 |
35,311,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Ankrd27
|
UTSW |
7 |
35,327,952 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7027:Ankrd27
|
UTSW |
7 |
35,311,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7177:Ankrd27
|
UTSW |
7 |
35,318,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Ankrd27
|
UTSW |
7 |
35,327,871 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7289:Ankrd27
|
UTSW |
7 |
35,330,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Ankrd27
|
UTSW |
7 |
35,301,074 (GRCm39) |
splice site |
probably benign |
|
|
R8011:Ankrd27
|
UTSW |
7 |
35,316,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8198:Ankrd27
|
UTSW |
7 |
35,307,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8214:Ankrd27
|
UTSW |
7 |
35,313,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Ankrd27
|
UTSW |
7 |
35,300,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Ankrd27
|
UTSW |
7 |
35,326,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Ankrd27
|
UTSW |
7 |
35,301,051 (GRCm39) |
nonsense |
probably null |
|
|
R8676:Ankrd27
|
UTSW |
7 |
35,302,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9276:Ankrd27
|
UTSW |
7 |
35,319,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9286:Ankrd27
|
UTSW |
7 |
35,326,869 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9400:Ankrd27
|
UTSW |
7 |
35,316,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Ankrd27
|
UTSW |
7 |
35,301,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9786:Ankrd27
|
UTSW |
7 |
35,291,294 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1177:Ankrd27
|
UTSW |
7 |
35,303,303 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATCCTAGTGCAGGTCAGAG -3'
(R):5'- CTCCTGATCTCAACAGTCACG -3'
Sequencing Primer
(F):5'- CTAGTGCAGGTCAGAGCTTCTAAATG -3'
(R):5'- TCCTCGACGCTGTCTAGAGAC -3'
|
| Posted On |
2022-02-16 |
Incidental Mutation