Incidental Mutation 'R9055:Ahnak2'
ID |
688645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahnak2
|
Ensembl Gene |
ENSMUSG00000072812 |
Gene Name |
AHNAK nucleoprotein 2 |
Synonyms |
LOC382643 |
MMRRC Submission |
068881-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R9055 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112738631-112766278 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112741019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1018
(A1018T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101010]
[ENSMUST00000128258]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101010
AA Change: A212T
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000098572 Gene: ENSMUSG00000072812 AA Change: A212T
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
14 |
N/A |
INTRINSIC |
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
low complexity region
|
545 |
564 |
N/A |
INTRINSIC |
low complexity region
|
717 |
733 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128258
AA Change: A1018T
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122404 Gene: ENSMUSG00000072812 AA Change: A1018T
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
66 |
N/A |
INTRINSIC |
internal_repeat_1
|
67 |
251 |
2.35e-83 |
PROSPERO |
low complexity region
|
285 |
308 |
N/A |
INTRINSIC |
low complexity region
|
371 |
389 |
N/A |
INTRINSIC |
internal_repeat_1
|
413 |
597 |
2.35e-83 |
PROSPERO |
low complexity region
|
734 |
756 |
N/A |
INTRINSIC |
low complexity region
|
811 |
820 |
N/A |
INTRINSIC |
low complexity region
|
1170 |
1181 |
N/A |
INTRINSIC |
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
low complexity region
|
1523 |
1539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137195
|
SMART Domains |
Protein: ENSMUSP00000116582 Gene: ENSMUSG00000072812
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
521 |
3.81e-221 |
PROSPERO |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
internal_repeat_1
|
606 |
1126 |
3.81e-221 |
PROSPERO |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
A |
19: 57,030,398 (GRCm39) |
T753S |
probably benign |
Het |
Acy3 |
A |
G |
19: 4,038,178 (GRCm39) |
E157G |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,181,867 (GRCm39) |
Y1609H |
probably damaging |
Het |
Ahsg |
T |
A |
16: 22,711,069 (GRCm39) |
W69R |
possibly damaging |
Het |
Alox12 |
T |
G |
11: 70,143,903 (GRCm39) |
D159A |
probably damaging |
Het |
Alox12b |
C |
G |
11: 69,054,884 (GRCm39) |
P296A |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,380,168 (GRCm39) |
I2507V |
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,045 (GRCm39) |
M670V |
possibly damaging |
Het |
Aqp12 |
C |
T |
1: 92,934,627 (GRCm39) |
A168V |
probably benign |
Het |
Ceacam1 |
A |
T |
7: 25,171,299 (GRCm39) |
D388E |
probably damaging |
Het |
Clp1 |
A |
T |
2: 84,554,266 (GRCm39) |
I301N |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,244,398 (GRCm39) |
F384L |
probably benign |
Het |
Dnpep |
A |
T |
1: 75,291,805 (GRCm39) |
M238K |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 6,996,641 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,623,360 (GRCm39) |
N98K |
probably benign |
Het |
Egr3 |
T |
A |
14: 70,316,349 (GRCm39) |
N15K |
probably damaging |
Het |
Fbxo25 |
T |
A |
8: 13,965,023 (GRCm39) |
C25S |
possibly damaging |
Het |
Fgd4 |
T |
A |
16: 16,240,494 (GRCm39) |
D745V |
possibly damaging |
Het |
Flnb |
T |
A |
14: 7,908,553 (GRCm38) |
D1310E |
probably benign |
Het |
Ggnbp2 |
A |
G |
11: 84,732,448 (GRCm39) |
F215S |
probably damaging |
Het |
Gm1979 |
C |
T |
5: 26,207,032 (GRCm39) |
R107Q |
probably benign |
Het |
Gm4847 |
T |
A |
1: 166,467,677 (GRCm39) |
H173L |
probably damaging |
Het |
Gmeb1 |
A |
T |
4: 131,964,425 (GRCm39) |
L146H |
probably damaging |
Het |
Gpr88 |
A |
G |
3: 116,046,300 (GRCm39) |
S4P |
unknown |
Het |
Gucy1a1 |
A |
G |
3: 82,016,433 (GRCm39) |
L185P |
possibly damaging |
Het |
Hsd3b6 |
G |
T |
3: 98,713,984 (GRCm39) |
T105N |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 89,998,335 (GRCm39) |
Y546C |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,667,196 (GRCm39) |
I305N |
probably benign |
Het |
Itgb3 |
G |
A |
11: 104,556,451 (GRCm39) |
W764* |
probably null |
Het |
Klra8 |
G |
T |
6: 130,096,017 (GRCm39) |
R192S |
probably benign |
Het |
Krt79 |
T |
A |
15: 101,839,922 (GRCm39) |
I358F |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,047,843 (GRCm39) |
D266G |
possibly damaging |
Het |
Mfsd8 |
G |
A |
3: 40,786,493 (GRCm39) |
A219V |
probably benign |
Het |
Mgam |
G |
A |
6: 40,691,663 (GRCm39) |
|
probably benign |
Het |
Nek9 |
A |
T |
12: 85,348,616 (GRCm39) |
C973S |
probably damaging |
Het |
Or2k2 |
G |
T |
4: 58,785,374 (GRCm39) |
A116E |
possibly damaging |
Het |
Or4f15 |
A |
T |
2: 111,814,049 (GRCm39) |
Y123* |
probably null |
Het |
Or8c13 |
T |
C |
9: 38,091,780 (GRCm39) |
Y113C |
probably damaging |
Het |
Ostc |
T |
A |
3: 130,503,020 (GRCm39) |
E2V |
probably damaging |
Het |
Ostc |
C |
A |
3: 130,503,021 (GRCm39) |
E2* |
probably null |
Het |
Pcdhb8 |
T |
A |
18: 37,490,585 (GRCm39) |
C754* |
probably null |
Het |
Polr1a |
A |
G |
6: 71,892,053 (GRCm39) |
T111A |
possibly damaging |
Het |
Prep |
C |
T |
10: 44,991,291 (GRCm39) |
T319M |
probably benign |
Het |
Reg3b |
A |
C |
6: 78,349,886 (GRCm39) |
D142A |
possibly damaging |
Het |
Retsat |
A |
G |
6: 72,583,936 (GRCm39) |
D537G |
probably benign |
Het |
Rnf2 |
G |
A |
1: 151,352,030 (GRCm39) |
L109F |
probably damaging |
Het |
Rskr |
A |
G |
11: 78,184,373 (GRCm39) |
D240G |
probably damaging |
Het |
Runx3 |
G |
T |
4: 134,902,656 (GRCm39) |
R262L |
probably damaging |
Het |
Rwdd3 |
G |
T |
3: 120,952,871 (GRCm39) |
T112K |
probably benign |
Het |
Scfd2 |
T |
C |
5: 74,691,931 (GRCm39) |
H117R |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,451,958 (GRCm39) |
V1321M |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,534,040 (GRCm39) |
E119G |
possibly damaging |
Het |
Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
Slc18a1 |
T |
A |
8: 69,520,823 (GRCm39) |
I199F |
possibly damaging |
Het |
St18 |
C |
T |
1: 6,873,206 (GRCm39) |
R314* |
probably null |
Het |
Sucla2 |
T |
G |
14: 73,819,068 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,878,187 (GRCm39) |
H225L |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,032,380 (GRCm39) |
V126A |
possibly damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,828 (GRCm39) |
I66T |
probably damaging |
Het |
Tmem45a2 |
T |
C |
16: 56,861,115 (GRCm39) |
I237M |
probably benign |
Het |
Traf3ip1 |
C |
T |
1: 91,428,733 (GRCm39) |
R167* |
probably null |
Het |
Trav17 |
T |
G |
14: 54,044,320 (GRCm39) |
V30G |
probably damaging |
Het |
Vmn1r54 |
A |
G |
6: 90,246,100 (GRCm39) |
N5D |
probably benign |
Het |
Vmn2r81 |
A |
G |
10: 79,110,441 (GRCm39) |
H518R |
probably benign |
Het |
Washc3 |
A |
G |
10: 88,051,916 (GRCm39) |
T102A |
probably benign |
Het |
Xaf1 |
A |
G |
11: 72,194,266 (GRCm39) |
H49R |
probably damaging |
Het |
Zfp1001 |
G |
A |
2: 150,165,753 (GRCm39) |
|
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,985,109 (GRCm39) |
F356L |
probably damaging |
Het |
Zfp398 |
G |
T |
6: 47,843,319 (GRCm39) |
R457L |
possibly damaging |
Het |
Zfp512 |
G |
T |
5: 31,637,533 (GRCm39) |
E541* |
probably null |
Het |
|
Other mutations in Ahnak2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02257:Ahnak2
|
APN |
12 |
112,748,905 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02994:Ahnak2
|
APN |
12 |
112,749,827 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4480001:Ahnak2
|
UTSW |
12 |
112,740,358 (GRCm39) |
missense |
possibly damaging |
0.79 |
PIT4810001:Ahnak2
|
UTSW |
12 |
112,749,214 (GRCm39) |
missense |
|
|
R0025:Ahnak2
|
UTSW |
12 |
112,749,154 (GRCm39) |
missense |
probably damaging |
0.99 |
R0025:Ahnak2
|
UTSW |
12 |
112,749,154 (GRCm39) |
missense |
probably damaging |
0.99 |
R0038:Ahnak2
|
UTSW |
12 |
112,740,896 (GRCm39) |
missense |
probably benign |
0.00 |
R0125:Ahnak2
|
UTSW |
12 |
112,748,776 (GRCm39) |
missense |
probably benign |
0.41 |
R1173:Ahnak2
|
UTSW |
12 |
112,749,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R1494:Ahnak2
|
UTSW |
12 |
112,751,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R1712:Ahnak2
|
UTSW |
12 |
112,748,998 (GRCm39) |
missense |
probably benign |
0.05 |
R1888:Ahnak2
|
UTSW |
12 |
112,740,325 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1888:Ahnak2
|
UTSW |
12 |
112,740,325 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2042:Ahnak2
|
UTSW |
12 |
112,749,439 (GRCm39) |
missense |
probably damaging |
0.98 |
R2056:Ahnak2
|
UTSW |
12 |
112,748,626 (GRCm39) |
missense |
probably benign |
0.00 |
R2417:Ahnak2
|
UTSW |
12 |
112,741,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R2762:Ahnak2
|
UTSW |
12 |
112,748,984 (GRCm39) |
missense |
probably damaging |
0.96 |
R3618:Ahnak2
|
UTSW |
12 |
112,749,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R3706:Ahnak2
|
UTSW |
12 |
112,740,085 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3739:Ahnak2
|
UTSW |
12 |
112,740,992 (GRCm39) |
missense |
probably benign |
0.05 |
R3950:Ahnak2
|
UTSW |
12 |
112,749,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R4485:Ahnak2
|
UTSW |
12 |
112,745,944 (GRCm39) |
unclassified |
probably benign |
|
R4651:Ahnak2
|
UTSW |
12 |
112,741,271 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4652:Ahnak2
|
UTSW |
12 |
112,741,271 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4831:Ahnak2
|
UTSW |
12 |
112,742,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R4836:Ahnak2
|
UTSW |
12 |
112,740,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R4837:Ahnak2
|
UTSW |
12 |
112,749,359 (GRCm39) |
missense |
probably benign |
0.00 |
R4864:Ahnak2
|
UTSW |
12 |
112,740,040 (GRCm39) |
missense |
probably damaging |
0.98 |
R4908:Ahnak2
|
UTSW |
12 |
112,741,706 (GRCm39) |
missense |
probably benign |
0.00 |
R5067:Ahnak2
|
UTSW |
12 |
112,748,936 (GRCm39) |
missense |
probably benign |
0.01 |
R5146:Ahnak2
|
UTSW |
12 |
112,742,160 (GRCm39) |
missense |
probably benign |
0.00 |
R5228:Ahnak2
|
UTSW |
12 |
112,741,820 (GRCm39) |
missense |
probably benign |
0.03 |
R5255:Ahnak2
|
UTSW |
12 |
112,739,812 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5323:Ahnak2
|
UTSW |
12 |
112,745,989 (GRCm39) |
unclassified |
probably benign |
|
R5523:Ahnak2
|
UTSW |
12 |
112,741,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R5733:Ahnak2
|
UTSW |
12 |
112,742,100 (GRCm39) |
nonsense |
probably null |
|
R5799:Ahnak2
|
UTSW |
12 |
112,745,365 (GRCm39) |
unclassified |
probably benign |
|
R5817:Ahnak2
|
UTSW |
12 |
112,740,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R5835:Ahnak2
|
UTSW |
12 |
112,742,230 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6083:Ahnak2
|
UTSW |
12 |
112,746,589 (GRCm39) |
missense |
probably benign |
0.01 |
R6083:Ahnak2
|
UTSW |
12 |
112,746,715 (GRCm39) |
missense |
probably benign |
0.06 |
R6167:Ahnak2
|
UTSW |
12 |
112,747,750 (GRCm39) |
missense |
probably benign |
0.03 |
R6168:Ahnak2
|
UTSW |
12 |
112,747,750 (GRCm39) |
missense |
probably benign |
0.03 |
R6405:Ahnak2
|
UTSW |
12 |
112,739,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R6460:Ahnak2
|
UTSW |
12 |
112,750,610 (GRCm39) |
missense |
probably null |
0.27 |
R6495:Ahnak2
|
UTSW |
12 |
112,740,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6544:Ahnak2
|
UTSW |
12 |
112,746,829 (GRCm39) |
unclassified |
probably benign |
|
R6656:Ahnak2
|
UTSW |
12 |
112,748,991 (GRCm39) |
missense |
probably benign |
0.02 |
R6679:Ahnak2
|
UTSW |
12 |
112,739,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R6723:Ahnak2
|
UTSW |
12 |
112,745,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Ahnak2
|
UTSW |
12 |
112,740,172 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6884:Ahnak2
|
UTSW |
12 |
112,741,863 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6906:Ahnak2
|
UTSW |
12 |
112,748,933 (GRCm39) |
missense |
probably benign |
0.00 |
R6919:Ahnak2
|
UTSW |
12 |
112,741,118 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7036:Ahnak2
|
UTSW |
12 |
112,745,216 (GRCm39) |
unclassified |
probably benign |
|
R7037:Ahnak2
|
UTSW |
12 |
112,740,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R7064:Ahnak2
|
UTSW |
12 |
112,746,919 (GRCm39) |
unclassified |
probably benign |
|
R7072:Ahnak2
|
UTSW |
12 |
112,751,786 (GRCm39) |
missense |
|
|
R7112:Ahnak2
|
UTSW |
12 |
112,747,747 (GRCm39) |
missense |
|
|
R7268:Ahnak2
|
UTSW |
12 |
112,780,802 (GRCm38) |
missense |
|
|
R7269:Ahnak2
|
UTSW |
12 |
112,780,802 (GRCm38) |
missense |
|
|
R7270:Ahnak2
|
UTSW |
12 |
112,780,802 (GRCm38) |
missense |
|
|
R7271:Ahnak2
|
UTSW |
12 |
112,780,802 (GRCm38) |
missense |
|
|
R7444:Ahnak2
|
UTSW |
12 |
112,745,831 (GRCm39) |
missense |
|
|
R7448:Ahnak2
|
UTSW |
12 |
112,746,605 (GRCm39) |
missense |
|
|
R7488:Ahnak2
|
UTSW |
12 |
112,748,641 (GRCm39) |
missense |
|
|
R7508:Ahnak2
|
UTSW |
12 |
112,740,839 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7560:Ahnak2
|
UTSW |
12 |
112,745,851 (GRCm39) |
missense |
|
|
R7611:Ahnak2
|
UTSW |
12 |
112,751,749 (GRCm39) |
missense |
|
|
R7743:Ahnak2
|
UTSW |
12 |
112,748,383 (GRCm39) |
missense |
not run |
|
R7762:Ahnak2
|
UTSW |
12 |
112,742,114 (GRCm39) |
missense |
probably benign |
0.27 |
R7780:Ahnak2
|
UTSW |
12 |
112,746,716 (GRCm39) |
missense |
|
|
R7930:Ahnak2
|
UTSW |
12 |
112,745,560 (GRCm39) |
missense |
|
|
R7985:Ahnak2
|
UTSW |
12 |
112,745,398 (GRCm39) |
missense |
|
|
R8114:Ahnak2
|
UTSW |
12 |
112,741,163 (GRCm39) |
missense |
probably benign |
0.05 |
R8122:Ahnak2
|
UTSW |
12 |
112,742,510 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8240:Ahnak2
|
UTSW |
12 |
112,741,082 (GRCm39) |
missense |
probably benign |
0.03 |
R8289:Ahnak2
|
UTSW |
12 |
112,742,242 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8315:Ahnak2
|
UTSW |
12 |
112,745,756 (GRCm39) |
missense |
|
|
R8430:Ahnak2
|
UTSW |
12 |
112,741,121 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8476:Ahnak2
|
UTSW |
12 |
112,747,100 (GRCm39) |
unclassified |
probably benign |
|
R8712:Ahnak2
|
UTSW |
12 |
112,750,709 (GRCm39) |
missense |
|
|
R8712:Ahnak2
|
UTSW |
12 |
112,749,872 (GRCm39) |
missense |
|
|
R8778:Ahnak2
|
UTSW |
12 |
112,783,158 (GRCm38) |
missense |
|
|
R8830:Ahnak2
|
UTSW |
12 |
112,750,656 (GRCm39) |
missense |
|
|
R9014:Ahnak2
|
UTSW |
12 |
112,740,170 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9327:Ahnak2
|
UTSW |
12 |
112,748,446 (GRCm39) |
missense |
|
|
R9386:Ahnak2
|
UTSW |
12 |
112,745,428 (GRCm39) |
missense |
|
|
R9445:Ahnak2
|
UTSW |
12 |
112,745,978 (GRCm39) |
missense |
|
|
R9462:Ahnak2
|
UTSW |
12 |
112,750,655 (GRCm39) |
missense |
|
|
R9559:Ahnak2
|
UTSW |
12 |
112,749,782 (GRCm39) |
critical splice donor site |
probably null |
|
R9571:Ahnak2
|
UTSW |
12 |
112,742,510 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9589:Ahnak2
|
UTSW |
12 |
112,746,831 (GRCm39) |
missense |
|
|
R9664:Ahnak2
|
UTSW |
12 |
112,741,363 (GRCm39) |
missense |
probably damaging |
0.97 |
R9711:Ahnak2
|
UTSW |
12 |
112,739,468 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1177:Ahnak2
|
UTSW |
12 |
112,745,822 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCATACGTTGGGCTCTC -3'
(R):5'- TCTGCAAGTCAGCCCTTTG -3'
Sequencing Primer
(F):5'- CATACGTTGGGCTCTCTACGG -3'
(R):5'- TTTGGGGAACTGGTACCACC -3'
|
Posted On |
2021-11-19 |