Incidental Mutation 'R5864:Nacad'
| ID |
454076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6597823-6606053 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6600581 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 870
(D870G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000388]
[ENSMUST00000045713]
[ENSMUST00000109721]
[ENSMUST00000109722]
|
| AlphaFold |
Q5SWP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000388
|
| SMART Domains |
Protein: ENSMUSP00000000388
Gene: ENSMUSG00000000378
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Blast:PTB
|
60 |
230 |
2e-35 |
BLAST |
|
low complexity region
|
242 |
252 |
N/A |
INTRINSIC |
|
Pfam:CCM2_C
|
296 |
396 |
8.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045713
AA Change: D870G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: D870G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
479 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
537 |
689 |
6.19e-8 |
PROSPERO |
|
low complexity region
|
692 |
713 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
732 |
889 |
6.19e-8 |
PROSPERO |
|
low complexity region
|
924 |
939 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1325 |
N/A |
INTRINSIC |
|
Pfam:NAC
|
1357 |
1413 |
2.9e-24 |
PFAM |
|
low complexity region
|
1449 |
1466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109721
|
| SMART Domains |
Protein: ENSMUSP00000105343
Gene: ENSMUSG00000000378
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
2 |
166 |
2e-32 |
BLAST |
|
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
PDB:4FQN|D
|
245 |
324 |
5e-52 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109722
|
| SMART Domains |
Protein: ENSMUSP00000105344
Gene: ENSMUSG00000000378
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
2 |
166 |
2e-32 |
BLAST |
|
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
PDB:4FQN|D
|
245 |
324 |
5e-52 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177391
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
T |
12: 84,043,404 (GRCm38) |
I292F |
probably benign |
Het |
| Adamdec1 |
A |
G |
14: 68,570,102 (GRCm38) |
S370P |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,659,165 (GRCm38) |
K692R |
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,920,380 (GRCm38) |
|
probably null |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm38) |
Q520* |
probably null |
Het |
| Bbs12 |
C |
T |
3: 37,319,490 (GRCm38) |
T144I |
probably damaging |
Het |
| C8g |
C |
T |
2: 25,498,943 (GRCm38) |
G186D |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,606,284 (GRCm38) |
F109S |
probably damaging |
Het |
| Coa8 |
G |
A |
12: 111,751,218 (GRCm38) |
V171I |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,202,973 (GRCm38) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,259,683 (GRCm38) |
D400G |
probably damaging |
Het |
| Dgke |
G |
C |
11: 89,050,462 (GRCm38) |
Y298* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,297,013 (GRCm38) |
R1451Q |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,061,220 (GRCm38) |
D90G |
probably damaging |
Het |
| Dok7 |
A |
C |
5: 35,066,546 (GRCm38) |
D143A |
probably damaging |
Het |
| Elk3 |
G |
A |
10: 93,284,791 (GRCm38) |
A62V |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,308,427 (GRCm38) |
M58K |
probably damaging |
Het |
| Erp27 |
G |
T |
6: 136,908,100 (GRCm38) |
D233E |
probably benign |
Het |
| Gm5174 |
T |
A |
10: 86,657,181 (GRCm38) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,783,146 (GRCm38) |
D214G |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,255,146 (GRCm38) |
E83K |
probably benign |
Het |
| Ifi35 |
A |
T |
11: 101,458,243 (GRCm38) |
I238F |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,261,467 (GRCm38) |
T983A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,990,922 (GRCm38) |
R766W |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,567,505 (GRCm38) |
K2066N |
possibly damaging |
Het |
| Mansc1 |
T |
G |
6: 134,610,853 (GRCm38) |
|
probably null |
Het |
| Mapre3 |
T |
C |
5: 30,863,238 (GRCm38) |
F101S |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,982,013 (GRCm38) |
T58A |
probably benign |
Het |
| Mical1 |
G |
T |
10: 41,486,068 (GRCm38) |
R857L |
possibly damaging |
Het |
| Nectin1 |
A |
G |
9: 43,791,310 (GRCm38) |
D118G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,322,381 (GRCm38) |
L26Q |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,713,464 (GRCm38) |
D25G |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,634,348 (GRCm38) |
S281P |
possibly damaging |
Het |
| Pcdhgc5 |
T |
A |
18: 37,821,761 (GRCm38) |
V696E |
probably damaging |
Het |
| Pde4d |
G |
T |
13: 109,938,048 (GRCm38) |
A396S |
probably benign |
Het |
| Pecam1 |
G |
T |
11: 106,684,250 (GRCm38) |
C510* |
probably null |
Het |
| Pga5 |
C |
T |
19: 10,675,149 (GRCm38) |
G76S |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,624,146 (GRCm38) |
H435L |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 122,486,373 (GRCm38) |
R1884G |
possibly damaging |
Het |
| Ripk4 |
T |
C |
16: 97,763,582 (GRCm38) |
H43R |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,435,111 (GRCm38) |
V785A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,566,491 (GRCm38) |
|
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,905,582 (GRCm38) |
F288L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,438,400 (GRCm38) |
|
probably null |
Het |
| Siglece |
A |
G |
7: 43,659,317 (GRCm38) |
L204P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,949,818 (GRCm38) |
D380G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,476,466 (GRCm38) |
R126L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 42,092,373 (GRCm38) |
L209P |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,145,925 (GRCm38) |
I310S |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,379,682 (GRCm38) |
T113A |
probably benign |
Het |
| Trav6-3 |
T |
A |
14: 53,430,171 (GRCm38) |
Y33* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,694,681 (GRCm38) |
E836G |
possibly damaging |
Het |
| Wdsub1 |
C |
T |
2: 59,878,475 (GRCm38) |
C18Y |
probably damaging |
Het |
| Zfp341 |
C |
A |
2: 154,643,554 (GRCm38) |
H637N |
possibly damaging |
Het |
| Zfp445 |
C |
T |
9: 122,853,487 (GRCm38) |
S463N |
probably benign |
Het |
| Zfp612 |
G |
A |
8: 110,089,726 (GRCm38) |
D522N |
probably damaging |
Het |
|
| Other mutations in Nacad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Nacad
|
APN |
11 |
6,600,921 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL00903:Nacad
|
APN |
11 |
6,600,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01303:Nacad
|
APN |
11 |
6,598,279 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01353:Nacad
|
APN |
11 |
6,600,530 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01833:Nacad
|
APN |
11 |
6,605,700 (GRCm38) |
missense |
unknown |
|
|
IGL02267:Nacad
|
APN |
11 |
6,602,649 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02531:Nacad
|
APN |
11 |
6,598,580 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02994:Nacad
|
APN |
11 |
6,599,528 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL03121:Nacad
|
APN |
11 |
6,600,933 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03161:Nacad
|
APN |
11 |
6,600,378 (GRCm38) |
nonsense |
probably null |
|
|
Locusta
|
UTSW |
11 |
6,602,387 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
migratoria
|
UTSW |
11 |
6,601,196 (GRCm38) |
missense |
probably benign |
0.30 |
|
FR4340:Nacad
|
UTSW |
11 |
6,599,761 (GRCm38) |
small insertion |
probably benign |
|
|
FR4342:Nacad
|
UTSW |
11 |
6,599,762 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Nacad
|
UTSW |
11 |
6,599,760 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Nacad
|
UTSW |
11 |
6,599,752 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Nacad
|
UTSW |
11 |
6,599,753 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nacad
|
UTSW |
11 |
6,599,763 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nacad
|
UTSW |
11 |
6,599,756 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nacad
|
UTSW |
11 |
6,599,749 (GRCm38) |
small insertion |
probably benign |
|
|
PIT4402001:Nacad
|
UTSW |
11 |
6,598,621 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0330:Nacad
|
UTSW |
11 |
6,600,903 (GRCm38) |
missense |
probably benign |
|
|
R0331:Nacad
|
UTSW |
11 |
6,599,441 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0409:Nacad
|
UTSW |
11 |
6,599,810 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0612:Nacad
|
UTSW |
11 |
6,601,382 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0644:Nacad
|
UTSW |
11 |
6,599,486 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0829:Nacad
|
UTSW |
11 |
6,601,158 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1483:Nacad
|
UTSW |
11 |
6,602,217 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1583:Nacad
|
UTSW |
11 |
6,601,185 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1905:Nacad
|
UTSW |
11 |
6,602,540 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1907:Nacad
|
UTSW |
11 |
6,602,540 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2361:Nacad
|
UTSW |
11 |
6,600,821 (GRCm38) |
missense |
probably benign |
|
|
R2979:Nacad
|
UTSW |
11 |
6,601,424 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4192:Nacad
|
UTSW |
11 |
6,605,534 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4381:Nacad
|
UTSW |
11 |
6,600,204 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4539:Nacad
|
UTSW |
11 |
6,600,677 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4751:Nacad
|
UTSW |
11 |
6,605,726 (GRCm38) |
missense |
unknown |
|
|
R4944:Nacad
|
UTSW |
11 |
6,598,507 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4962:Nacad
|
UTSW |
11 |
6,599,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5102:Nacad
|
UTSW |
11 |
6,598,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5189:Nacad
|
UTSW |
11 |
6,601,611 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5296:Nacad
|
UTSW |
11 |
6,605,745 (GRCm38) |
missense |
unknown |
|
|
R5566:Nacad
|
UTSW |
11 |
6,602,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5634:Nacad
|
UTSW |
11 |
6,602,387 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5725:Nacad
|
UTSW |
11 |
6,601,643 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5748:Nacad
|
UTSW |
11 |
6,598,370 (GRCm38) |
nonsense |
probably null |
|
|
R5882:Nacad
|
UTSW |
11 |
6,598,568 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6089:Nacad
|
UTSW |
11 |
6,601,331 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6117:Nacad
|
UTSW |
11 |
6,599,810 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6161:Nacad
|
UTSW |
11 |
6,600,902 (GRCm38) |
missense |
probably benign |
|
|
R6351:Nacad
|
UTSW |
11 |
6,600,165 (GRCm38) |
nonsense |
probably null |
|
|
R6351:Nacad
|
UTSW |
11 |
6,599,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6366:Nacad
|
UTSW |
11 |
6,601,196 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6525:Nacad
|
UTSW |
11 |
6,602,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6811:Nacad
|
UTSW |
11 |
6,599,400 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6931:Nacad
|
UTSW |
11 |
6,601,877 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6966:Nacad
|
UTSW |
11 |
6,602,634 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7228:Nacad
|
UTSW |
11 |
6,598,412 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7248:Nacad
|
UTSW |
11 |
6,598,589 (GRCm38) |
nonsense |
probably null |
|
|
R7556:Nacad
|
UTSW |
11 |
6,601,272 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7594:Nacad
|
UTSW |
11 |
6,602,457 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7813:Nacad
|
UTSW |
11 |
6,599,071 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7841:Nacad
|
UTSW |
11 |
6,601,031 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8243:Nacad
|
UTSW |
11 |
6,602,643 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8810:Nacad
|
UTSW |
11 |
6,602,853 (GRCm38) |
missense |
probably benign |
0.15 |
|
R9042:Nacad
|
UTSW |
11 |
6,598,948 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9057:Nacad
|
UTSW |
11 |
6,600,876 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9114:Nacad
|
UTSW |
11 |
6,602,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9328:Nacad
|
UTSW |
11 |
6,602,417 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R9394:Nacad
|
UTSW |
11 |
6,599,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9595:Nacad
|
UTSW |
11 |
6,601,790 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9755:Nacad
|
UTSW |
11 |
6,599,374 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9760:Nacad
|
UTSW |
11 |
6,601,662 (GRCm38) |
missense |
probably benign |
0.02 |
|
T0975:Nacad
|
UTSW |
11 |
6,601,632 (GRCm38) |
missense |
probably benign |
0.17 |
|
T0975:Nacad
|
UTSW |
11 |
6,601,622 (GRCm38) |
missense |
probably benign |
0.03 |
|
T0975:Nacad
|
UTSW |
11 |
6,599,750 (GRCm38) |
small insertion |
probably benign |
|
|
X0011:Nacad
|
UTSW |
11 |
6,601,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Nacad
|
UTSW |
11 |
6,602,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTAACCTGGCTCTGAGC -3'
(R):5'- AAGCTCACATCCCACTTCGG -3'
Sequencing Primer
(F):5'- AGCCATTCTGTTGGGCC -3'
(R):5'- TTCGGACCAAGAACGCG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation