Incidental Mutation 'R9786:Ankrd27'
| ID |
734329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd27
|
| Ensembl Gene |
ENSMUSG00000034867 |
| Gene Name |
ankyrin repeat domain 27 |
| Synonyms |
Varp, D330003H11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35285669-35338651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35291294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 30
(Q30L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040844]
[ENSMUST00000186245]
[ENSMUST00000188906]
[ENSMUST00000190503]
[ENSMUST00000206157]
[ENSMUST00000206472]
|
| AlphaFold |
Q3UMR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040844
AA Change: Q30L
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867
AA Change: Q30L
| 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
AA Change: Q30L
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140554
Gene: ENSMUSG00000034867
AA Change: Q30L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
1e-8 |
BLAST |
|
VPS9
|
264 |
377 |
2.19e-6 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000139753
Gene: ENSMUSG00000034867
AA Change: Q30L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
8 |
37 |
4e-9 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190503
AA Change: Q30L
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867
AA Change: Q30L
| 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 |
possibly damaging
Transcript: ENSMUST00000206157
AA Change: Q30L
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206472
AA Change: Q30L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,536 (GRCm39) |
M232K |
possibly damaging |
Het |
| Abcc1 |
T |
C |
16: 14,222,927 (GRCm39) |
S243P |
probably damaging |
Het |
| Acsl1 |
T |
C |
8: 46,974,486 (GRCm39) |
Y320H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,653,090 (GRCm39) |
S61G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,592,302 (GRCm39) |
T965I |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,456,182 (GRCm39) |
M190K |
probably damaging |
Het |
| Ankrd2 |
T |
A |
19: 42,033,358 (GRCm39) |
L300Q |
|
Het |
| Atp8b5 |
T |
A |
4: 43,305,798 (GRCm39) |
I114K |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,786,809 (GRCm39) |
I205F |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,311,692 (GRCm39) |
R677H |
|
Het |
| Calhm6 |
A |
G |
10: 34,003,643 (GRCm39) |
F88S |
probably benign |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,502,939 (GRCm39) |
E255V |
probably benign |
Het |
| Dpysl3 |
G |
T |
18: 43,462,922 (GRCm39) |
T485K |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,194,038 (GRCm39) |
D867G |
possibly damaging |
Het |
| Fam178b |
G |
A |
1: 36,603,517 (GRCm39) |
T478I |
probably damaging |
Het |
| Foxd2 |
G |
T |
4: 114,764,850 (GRCm39) |
T390K |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,040,645 (GRCm39) |
V731A |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,471,466 (GRCm39) |
I601F |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,250,959 (GRCm39) |
R169Q |
possibly damaging |
Het |
| Ighe |
G |
C |
12: 113,236,851 (GRCm39) |
Q6E |
|
Het |
| Ighv8-2 |
T |
C |
12: 114,426,179 (GRCm39) |
I31V |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,104 (GRCm39) |
D120G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,702,982 (GRCm39) |
D1054G |
probably benign |
Het |
| Lamp5 |
A |
T |
2: 135,910,998 (GRCm39) |
I244F |
probably damaging |
Het |
| Maco1 |
A |
T |
4: 134,557,993 (GRCm39) |
Y173* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,865 (GRCm39) |
E344G |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,556 (GRCm39) |
K13R |
probably benign |
Het |
| Mrpl43 |
C |
T |
19: 44,994,346 (GRCm39) |
S91N |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,481,032 (GRCm39) |
S706P |
probably benign |
Het |
| Nelfb |
A |
T |
2: 25,095,145 (GRCm39) |
V348D |
probably damaging |
Het |
| Or1l8 |
T |
A |
2: 36,817,416 (GRCm39) |
K237* |
probably null |
Het |
| Or5p72 |
A |
T |
7: 108,021,924 (GRCm39) |
I49F |
probably benign |
Het |
| Or7g20 |
C |
T |
9: 18,947,241 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,428 (GRCm39) |
S203L |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,713 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,009 (GRCm39) |
I324T |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,660,655 (GRCm39) |
L770* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 133,019,338 (GRCm39) |
F1029I |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,087,890 (GRCm39) |
S500R |
probably benign |
Het |
| Sarm1 |
T |
C |
11: 78,365,743 (GRCm39) |
M761V |
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,822,140 (GRCm39) |
L264P |
possibly damaging |
Het |
| Slc37a1 |
G |
T |
17: 31,556,965 (GRCm39) |
G377V |
probably damaging |
Het |
| Slc38a4 |
T |
A |
15: 96,906,378 (GRCm39) |
M364L |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,580,280 (GRCm39) |
F384S |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,625 (GRCm39) |
V366A |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,155 (GRCm39) |
V1101D |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,498 (GRCm39) |
D441N |
possibly damaging |
Het |
| Stab2 |
C |
A |
10: 86,757,997 (GRCm39) |
M1090I |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tgds |
A |
T |
14: 118,368,049 (GRCm39) |
Y41* |
probably null |
Het |
| Tle4 |
G |
T |
19: 14,495,304 (GRCm39) |
H142N |
probably benign |
Het |
| Tlx2 |
T |
C |
6: 83,046,274 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
C |
G |
19: 5,131,869 (GRCm39) |
A446P |
probably damaging |
Het |
| Tmem205 |
A |
T |
9: 21,832,496 (GRCm39) |
D138E |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,042 (GRCm39) |
K1009E |
unknown |
Het |
| Tnk2 |
T |
A |
16: 32,498,875 (GRCm39) |
C729* |
probably null |
Het |
| Trim46 |
T |
A |
3: 89,142,399 (GRCm39) |
D696V |
probably damaging |
Het |
| Tuba3b |
G |
A |
6: 145,564,482 (GRCm39) |
R84Q |
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,263,521 (GRCm39) |
D228N |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,510,864 (GRCm39) |
T490A |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,853 (GRCm39) |
C625* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,919,768 (GRCm39) |
M1I |
probably null |
Het |
| Zfp729a |
T |
C |
13: 67,768,628 (GRCm39) |
T534A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,047 (GRCm39) |
H305L |
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,828,330 (GRCm39) |
Q291* |
probably null |
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 |
|
|
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 |
|
Z1177:Ankrd27
|
UTSW |
7 |
35,303,303 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGGATTTGTGGGTCACC -3'
(R):5'- AGTCTCAGGACGCTTCATCC -3'
Sequencing Primer
(F):5'- CTACAGAGTGAGCTCCAGGTTTAC -3'
(R):5'- TCAGGACGCTTCATCCAGGAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation