Incidental Mutation 'R8676:Ankrd27'
ID |
661383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd27
|
Ensembl Gene |
ENSMUSG00000034867 |
Gene Name |
ankyrin repeat domain 27 |
Synonyms |
Varp, D330003H11Rik |
MMRRC Submission |
068531-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8676 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 35302009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000186245]
[ENSMUST00000188906]
[ENSMUST00000190503]
[ENSMUST00000206157]
[ENSMUST00000206472]
|
AlphaFold |
Q3UMR0 |
Predicted Effect |
probably null
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: ENSMUST00000186245
|
SMART Domains |
Protein: ENSMUSP00000140554 Gene: ENSMUSG00000034867
Domain | Start | End | E-Value | Type |
Blast:ANK
|
8 |
37 |
1e-8 |
BLAST |
VPS9
|
264 |
377 |
2.19e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188906
|
SMART Domains |
Protein: ENSMUSP00000139753 Gene: ENSMUSG00000034867
Domain | Start | End | E-Value | Type |
Blast:ANK
|
8 |
37 |
4e-9 |
BLAST |
|
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: ENSMUST00000206157
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206472
|
Meta Mutation Damage Score |
0.9504 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
93% (54/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
G |
A |
4: 144,396,683 (GRCm39) |
R350C |
possibly damaging |
Het |
Acsm3 |
T |
A |
7: 119,374,392 (GRCm39) |
S281R |
probably damaging |
Het |
Adipor2 |
G |
T |
6: 119,340,447 (GRCm39) |
|
probably benign |
Het |
Alk |
T |
C |
17: 72,204,936 (GRCm39) |
S1079G |
probably damaging |
Het |
Anxa6 |
C |
A |
11: 54,892,108 (GRCm39) |
E283* |
probably null |
Het |
Bnc2 |
T |
C |
4: 84,194,550 (GRCm39) |
H858R |
possibly damaging |
Het |
Btnl6 |
T |
C |
17: 34,727,043 (GRCm39) |
S496G |
probably benign |
Het |
Ccdc88a |
T |
C |
11: 29,410,860 (GRCm39) |
S449P |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,736,456 (GRCm39) |
L1345H |
possibly damaging |
Het |
Cyld |
A |
T |
8: 89,456,138 (GRCm39) |
H396L |
probably benign |
Het |
Cyp20a1 |
A |
G |
1: 60,418,579 (GRCm39) |
T340A |
possibly damaging |
Het |
Czib |
A |
G |
4: 107,752,796 (GRCm39) |
N152D |
unknown |
Het |
Dera |
A |
T |
6: 137,807,202 (GRCm39) |
I217F |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,154,539 (GRCm39) |
L247P |
probably damaging |
Het |
Eftud2 |
G |
A |
11: 102,759,447 (GRCm39) |
T152M |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,965,858 (GRCm39) |
K214E |
probably damaging |
Het |
Epb41l2 |
C |
T |
10: 25,319,674 (GRCm39) |
T169M |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,845,023 (GRCm39) |
D407G |
unknown |
Het |
Gli3 |
T |
A |
13: 15,889,619 (GRCm39) |
C578S |
probably damaging |
Het |
Gm6408 |
A |
G |
5: 146,419,237 (GRCm39) |
N84S |
probably benign |
Het |
Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
A |
7: 55,838,361 (GRCm39) |
T3296K |
probably damaging |
Het |
Hnf4g |
A |
T |
3: 3,708,133 (GRCm39) |
|
probably benign |
Het |
Hyal4 |
C |
A |
6: 24,755,826 (GRCm39) |
Q15K |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kcna3 |
A |
G |
3: 106,943,908 (GRCm39) |
E57G |
probably damaging |
Het |
Kcnc3 |
C |
A |
7: 44,241,020 (GRCm39) |
D237E |
probably benign |
Het |
Map3k8 |
A |
G |
18: 4,343,137 (GRCm39) |
V130A |
probably benign |
Het |
Mpp7 |
A |
G |
18: 7,440,430 (GRCm39) |
|
probably null |
Het |
Mtres1 |
A |
G |
10: 43,408,933 (GRCm39) |
L70S |
probably benign |
Het |
Myh13 |
T |
A |
11: 67,233,311 (GRCm39) |
L610Q |
probably damaging |
Het |
Or13p5 |
C |
A |
4: 118,592,235 (GRCm39) |
P170T |
probably damaging |
Het |
Or5ap2 |
T |
A |
2: 85,680,246 (GRCm39) |
M150K |
probably benign |
Het |
Or8b52 |
T |
C |
9: 38,577,064 (GRCm39) |
I25M |
probably benign |
Het |
Pcdhb5 |
A |
T |
18: 37,454,129 (GRCm39) |
T170S |
probably benign |
Het |
Polr3b |
T |
A |
10: 84,516,251 (GRCm39) |
H626Q |
probably benign |
Het |
Prkg1 |
A |
T |
19: 31,742,146 (GRCm39) |
L26Q |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,787,039 (GRCm39) |
N405S |
possibly damaging |
Het |
Proz |
T |
G |
8: 13,123,630 (GRCm39) |
S300R |
probably damaging |
Het |
Psg19 |
A |
G |
7: 18,527,990 (GRCm39) |
I251T |
probably benign |
Het |
Rcbtb1 |
T |
C |
14: 59,467,401 (GRCm39) |
I413T |
possibly damaging |
Het |
Rnf144b |
T |
A |
13: 47,382,452 (GRCm39) |
Y103N |
probably damaging |
Het |
Rspry1 |
G |
C |
8: 95,358,747 (GRCm39) |
G194R |
probably benign |
Het |
Scn2b |
A |
G |
9: 45,036,917 (GRCm39) |
I142V |
probably damaging |
Het |
Spata20 |
A |
T |
11: 94,372,607 (GRCm39) |
L588H |
probably damaging |
Het |
Stk32b |
T |
A |
5: 37,614,503 (GRCm39) |
H335L |
probably benign |
Het |
Taar4 |
A |
C |
10: 23,836,801 (GRCm39) |
D137A |
possibly damaging |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
T |
4: 94,738,074 (GRCm39) |
H708L |
probably benign |
Het |
Tmem89 |
C |
T |
9: 108,744,095 (GRCm39) |
L132F |
unknown |
Het |
Ugt2b38 |
T |
C |
5: 87,559,681 (GRCm39) |
I404V |
probably benign |
Het |
Vmn1r16 |
C |
T |
6: 57,299,814 (GRCm39) |
M269I |
probably benign |
Het |
Vmn1r201 |
A |
G |
13: 22,659,422 (GRCm39) |
K212R |
probably damaging |
Het |
Vmn2r11 |
A |
C |
5: 109,201,626 (GRCm39) |
F293V |
probably damaging |
Het |
Zdhhc17 |
A |
T |
10: 110,798,240 (GRCm39) |
|
probably benign |
Het |
Zfp423 |
C |
A |
8: 88,509,338 (GRCm39) |
M335I |
probably benign |
Het |
Zfp74 |
T |
C |
7: 29,634,079 (GRCm39) |
Y543C |
probably damaging |
Het |
Zfp975 |
A |
T |
7: 42,312,264 (GRCm39) |
S116R |
probably benign |
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 |
|
R8901:Ankrd27
|
UTSW |
7 |
35,332,243 (GRCm39) |
intron |
probably benign |
|
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'- CCCCATTGTTCAGAAAACGG -3'
(R):5'- TTCCTGAAGGGTCTTATGCTAC -3'
Sequencing Primer
(F):5'- TGTTCAGAAAACGGAAAACTCTAGC -3'
(R):5'- ACTTTATATGCCCCAGTACAGG -3'
|
Posted On |
2021-03-08 |