Incidental Mutation 'R4837:Ahnak2'
ID |
374357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahnak2
|
Ensembl Gene |
ENSMUSG00000072812 |
Gene Name |
AHNAK nucleoprotein 2 |
Synonyms |
LOC382643 |
MMRRC Submission |
042452-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4837 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112738631-112766278 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112749359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 203
(S203P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124526]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000124526
AA Change: S203P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000114522 Gene: ENSMUSG00000072812 AA Change: S203P
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
94 |
N/A |
INTRINSIC |
PDZ
|
118 |
190 |
6e-4 |
SMART |
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
low complexity region
|
300 |
319 |
N/A |
INTRINSIC |
low complexity region
|
405 |
429 |
N/A |
INTRINSIC |
internal_repeat_1
|
465 |
898 |
2.74e-235 |
PROSPERO |
low complexity region
|
905 |
923 |
N/A |
INTRINSIC |
low complexity region
|
990 |
1013 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1092 |
N/A |
INTRINSIC |
internal_repeat_1
|
1145 |
1588 |
2.74e-235 |
PROSPERO |
low complexity region
|
1590 |
1632 |
N/A |
INTRINSIC |
low complexity region
|
1639 |
1700 |
N/A |
INTRINSIC |
low complexity region
|
1709 |
1736 |
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,846,203 (GRCm39) |
H618L |
probably benign |
Het |
Adgrl3 |
A |
G |
5: 81,914,081 (GRCm39) |
T1230A |
probably benign |
Het |
Allc |
A |
G |
12: 28,609,308 (GRCm39) |
V244A |
probably benign |
Het |
Ap3m1 |
G |
A |
14: 21,087,225 (GRCm39) |
P157L |
probably damaging |
Het |
Arhgef2 |
T |
G |
3: 88,540,250 (GRCm39) |
I97S |
probably damaging |
Het |
Btaf1 |
C |
A |
19: 36,944,185 (GRCm39) |
T398K |
probably benign |
Het |
Cabp1 |
T |
C |
5: 115,311,212 (GRCm39) |
M158V |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,549,863 (GRCm39) |
P340L |
probably benign |
Het |
Ccdc168 |
G |
A |
1: 44,100,594 (GRCm39) |
T168I |
possibly damaging |
Het |
Clip4 |
A |
G |
17: 72,141,217 (GRCm39) |
K524E |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,586,474 (GRCm39) |
V189A |
probably benign |
Het |
Cmc2 |
A |
G |
8: 117,620,879 (GRCm39) |
F34S |
probably damaging |
Het |
Ctcfl |
G |
T |
2: 172,955,449 (GRCm39) |
T271N |
probably benign |
Het |
Cyp4f16 |
T |
A |
17: 32,761,738 (GRCm39) |
F124I |
possibly damaging |
Het |
Ddx41 |
C |
A |
13: 55,679,461 (GRCm39) |
R479L |
possibly damaging |
Het |
Dgcr6 |
C |
A |
16: 17,884,710 (GRCm39) |
N87K |
possibly damaging |
Het |
Dll1 |
A |
G |
17: 15,589,121 (GRCm39) |
L518P |
probably damaging |
Het |
Dnaja4 |
G |
T |
9: 54,617,928 (GRCm39) |
M263I |
probably benign |
Het |
Dusp13b |
T |
A |
14: 21,793,593 (GRCm39) |
|
probably benign |
Het |
Fam185a |
T |
A |
5: 21,685,375 (GRCm39) |
I357N |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,838,678 (GRCm39) |
Y2522C |
unknown |
Het |
Fam222a |
T |
A |
5: 114,732,458 (GRCm39) |
C4* |
probably null |
Het |
Filip1 |
T |
C |
9: 79,726,741 (GRCm39) |
D626G |
probably damaging |
Het |
Ghrhr |
C |
T |
6: 55,365,172 (GRCm39) |
R389C |
probably damaging |
Het |
Gstm3 |
T |
A |
3: 107,871,531 (GRCm39) |
T217S |
probably benign |
Het |
Gucy2g |
T |
C |
19: 55,214,485 (GRCm39) |
T548A |
probably benign |
Het |
Hectd3 |
T |
A |
4: 116,859,794 (GRCm39) |
C744S |
probably null |
Het |
Hnrnpl |
T |
C |
7: 28,516,762 (GRCm39) |
S184P |
probably benign |
Het |
Il3 |
G |
A |
11: 54,158,083 (GRCm39) |
|
probably benign |
Het |
Itga5 |
C |
T |
15: 103,262,511 (GRCm39) |
G330S |
probably damaging |
Het |
Kl |
A |
G |
5: 150,904,312 (GRCm39) |
T355A |
possibly damaging |
Het |
Lipk |
A |
C |
19: 34,009,720 (GRCm39) |
S208R |
probably damaging |
Het |
Mrs2 |
T |
A |
13: 25,183,040 (GRCm39) |
|
probably null |
Het |
Mutyh |
A |
G |
4: 116,674,887 (GRCm39) |
E372G |
probably damaging |
Het |
Myh4 |
C |
A |
11: 67,149,818 (GRCm39) |
A1821D |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,279,693 (GRCm39) |
E881G |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,136,552 (GRCm39) |
|
probably benign |
Het |
Nwd1 |
A |
G |
8: 73,383,759 (GRCm39) |
E52G |
probably damaging |
Het |
Opn4 |
A |
G |
14: 34,318,261 (GRCm39) |
V242A |
probably damaging |
Het |
Or4e1 |
A |
T |
14: 52,701,103 (GRCm39) |
M121K |
probably damaging |
Het |
Or4k44 |
T |
A |
2: 111,368,319 (GRCm39) |
H105L |
probably damaging |
Het |
Or5m13 |
A |
G |
2: 85,748,748 (GRCm39) |
T160A |
probably benign |
Het |
Or6b1 |
T |
G |
6: 42,814,783 (GRCm39) |
|
probably null |
Het |
Or6b2b |
A |
G |
1: 92,418,697 (GRCm39) |
V260A |
probably benign |
Het |
Paxbp1 |
G |
A |
16: 90,831,866 (GRCm39) |
Q341* |
probably null |
Het |
Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,622,867 (GRCm39) |
V66M |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,285,749 (GRCm39) |
E951G |
possibly damaging |
Het |
Plcg1 |
A |
G |
2: 160,592,906 (GRCm39) |
N179S |
probably benign |
Het |
Prr11 |
A |
C |
11: 86,989,517 (GRCm39) |
S285A |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,278,451 (GRCm39) |
S139P |
probably damaging |
Het |
Rasa4 |
G |
A |
5: 136,120,664 (GRCm39) |
|
probably null |
Het |
Rnf213 |
G |
C |
11: 119,333,589 (GRCm39) |
G2934R |
probably benign |
Het |
Rpap1 |
A |
G |
2: 119,608,732 (GRCm39) |
V210A |
probably benign |
Het |
Rpn1 |
T |
A |
6: 88,067,187 (GRCm39) |
N182K |
probably benign |
Het |
Rps24 |
C |
T |
14: 24,541,855 (GRCm39) |
T14I |
possibly damaging |
Het |
Rrp12 |
C |
T |
19: 41,865,944 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
A |
18: 89,108,539 (GRCm39) |
|
probably null |
Het |
Rufy1 |
A |
G |
11: 50,292,320 (GRCm39) |
S490P |
probably damaging |
Het |
Sec62 |
T |
A |
3: 30,864,018 (GRCm39) |
M100K |
unknown |
Het |
Spata16 |
A |
G |
3: 26,787,081 (GRCm39) |
H253R |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,158,134 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
A |
G |
4: 135,072,823 (GRCm39) |
|
probably benign |
Het |
Tbcd |
G |
A |
11: 121,473,611 (GRCm39) |
|
probably null |
Het |
Tedc2 |
C |
A |
17: 24,439,567 (GRCm39) |
A25S |
probably damaging |
Het |
Tnr |
A |
T |
1: 159,512,358 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
C |
17: 34,936,981 (GRCm39) |
D3730A |
probably damaging |
Het |
Tor2a |
G |
A |
2: 32,650,609 (GRCm39) |
G201D |
probably damaging |
Het |
Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
Vmn1r211 |
G |
T |
13: 23,036,296 (GRCm39) |
Q124K |
probably benign |
Het |
Wasf3 |
T |
C |
5: 146,397,788 (GRCm39) |
V185A |
probably benign |
Het |
Zbtb12 |
A |
G |
17: 35,114,985 (GRCm39) |
T257A |
probably benign |
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 |
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 |
R9055:Ahnak2
|
UTSW |
12 |
112,741,019 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- TGCACCCATCAGCAATGTCC -3'
(R):5'- TGGACAAATGCCAATATGCAGC -3'
Sequencing Primer
(F):5'- GCAATGTCCTTGTCCTGAAACAG -3'
(R):5'- AATATGCAGCCCACTTTCCATG -3'
|
Posted On |
2016-03-01 |