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 |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6550581 bp (GRCm39)
|
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: 84,090,178 (GRCm39) |
I292F |
probably benign |
Het |
Adamdec1 |
A |
G |
14: 68,807,551 (GRCm39) |
S370P |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,698,324 (GRCm39) |
K692R |
probably benign |
Het |
Ano6 |
T |
C |
15: 95,818,261 (GRCm39) |
|
probably null |
Het |
Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
Bbs12 |
C |
T |
3: 37,373,639 (GRCm39) |
T144I |
probably damaging |
Het |
C8g |
C |
T |
2: 25,388,955 (GRCm39) |
G186D |
probably damaging |
Het |
Clptm1l |
T |
C |
13: 73,754,403 (GRCm39) |
F109S |
probably damaging |
Het |
Coa8 |
G |
A |
12: 111,717,652 (GRCm39) |
V171I |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,252,973 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
T |
C |
16: 30,078,501 (GRCm39) |
D400G |
probably damaging |
Het |
Dgke |
G |
C |
11: 88,941,288 (GRCm39) |
Y298* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,297,159 (GRCm39) |
R1451Q |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,038,584 (GRCm39) |
D90G |
probably damaging |
Het |
Dok7 |
A |
C |
5: 35,223,890 (GRCm39) |
D143A |
probably damaging |
Het |
Elk3 |
G |
A |
10: 93,120,653 (GRCm39) |
A62V |
probably damaging |
Het |
Epha2 |
T |
A |
4: 141,035,738 (GRCm39) |
M58K |
probably damaging |
Het |
Erp27 |
G |
T |
6: 136,885,098 (GRCm39) |
D233E |
probably benign |
Het |
Gm5174 |
T |
A |
10: 86,493,045 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,760,107 (GRCm39) |
D214G |
probably damaging |
Het |
Hrob |
G |
A |
11: 102,145,972 (GRCm39) |
E83K |
probably benign |
Het |
Ifi35 |
A |
T |
11: 101,349,069 (GRCm39) |
I238F |
probably damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,311,467 (GRCm39) |
T983A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,403,374 (GRCm39) |
K2066N |
possibly damaging |
Het |
Mansc1 |
T |
G |
6: 134,587,816 (GRCm39) |
|
probably null |
Het |
Mapre3 |
T |
C |
5: 31,020,582 (GRCm39) |
F101S |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,812,357 (GRCm39) |
T58A |
probably benign |
Het |
Mical1 |
G |
T |
10: 41,362,064 (GRCm39) |
R857L |
possibly damaging |
Het |
Nectin1 |
A |
G |
9: 43,702,607 (GRCm39) |
D118G |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,325,380 (GRCm39) |
L26Q |
probably damaging |
Het |
Or10a3m |
A |
G |
7: 108,312,671 (GRCm39) |
D25G |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,464,693 (GRCm39) |
S281P |
possibly damaging |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,814 (GRCm39) |
V696E |
probably damaging |
Het |
Pde4d |
G |
T |
13: 110,074,582 (GRCm39) |
A396S |
probably benign |
Het |
Pecam1 |
G |
T |
11: 106,575,076 (GRCm39) |
C510* |
probably null |
Het |
Pga5 |
C |
T |
19: 10,652,513 (GRCm39) |
G76S |
probably damaging |
Het |
Phldb3 |
A |
T |
7: 24,323,571 (GRCm39) |
H435L |
possibly damaging |
Het |
Piezo1 |
T |
C |
8: 123,213,112 (GRCm39) |
R1884G |
possibly damaging |
Het |
Ripk4 |
T |
C |
16: 97,564,782 (GRCm39) |
H43R |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,412,476 (GRCm39) |
V785A |
probably damaging |
Het |
Safb2 |
A |
G |
17: 56,873,491 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
T |
C |
2: 4,910,393 (GRCm39) |
F288L |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,586,266 (GRCm39) |
|
probably null |
Het |
Siglece |
A |
G |
7: 43,308,741 (GRCm39) |
L204P |
probably damaging |
Het |
Sis |
T |
C |
3: 72,857,151 (GRCm39) |
D380G |
probably damaging |
Het |
Slamf9 |
G |
T |
1: 172,304,033 (GRCm39) |
R126L |
probably benign |
Het |
Sorl1 |
A |
G |
9: 42,003,669 (GRCm39) |
L209P |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,095,925 (GRCm39) |
I310S |
probably damaging |
Het |
Tex52 |
A |
G |
6: 128,356,645 (GRCm39) |
T113A |
probably benign |
Het |
Trav6-3 |
T |
A |
14: 53,667,628 (GRCm39) |
Y33* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,914,943 (GRCm39) |
E836G |
possibly damaging |
Het |
Wdsub1 |
C |
T |
2: 59,708,819 (GRCm39) |
C18Y |
probably damaging |
Het |
Zfp341 |
C |
A |
2: 154,485,474 (GRCm39) |
H637N |
possibly damaging |
Het |
Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
Zfp612 |
G |
A |
8: 110,816,358 (GRCm39) |
D522N |
probably damaging |
Het |
|
Other mutations in Nacad |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00597:Nacad
|
APN |
11 |
6,550,921 (GRCm39) |
missense |
probably benign |
0.24 |
IGL00903:Nacad
|
APN |
11 |
6,550,632 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01303:Nacad
|
APN |
11 |
6,548,279 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01353:Nacad
|
APN |
11 |
6,550,530 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01833:Nacad
|
APN |
11 |
6,555,700 (GRCm39) |
missense |
unknown |
|
IGL02267:Nacad
|
APN |
11 |
6,552,649 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02531:Nacad
|
APN |
11 |
6,548,580 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02994:Nacad
|
APN |
11 |
6,549,528 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03121:Nacad
|
APN |
11 |
6,550,933 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03161:Nacad
|
APN |
11 |
6,550,378 (GRCm39) |
nonsense |
probably null |
|
Locusta
|
UTSW |
11 |
6,552,387 (GRCm39) |
missense |
possibly damaging |
0.88 |
migratoria
|
UTSW |
11 |
6,551,196 (GRCm39) |
missense |
probably benign |
0.30 |
FR4340:Nacad
|
UTSW |
11 |
6,549,761 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Nacad
|
UTSW |
11 |
6,549,762 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Nacad
|
UTSW |
11 |
6,549,760 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Nacad
|
UTSW |
11 |
6,549,752 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Nacad
|
UTSW |
11 |
6,549,753 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Nacad
|
UTSW |
11 |
6,549,763 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Nacad
|
UTSW |
11 |
6,549,756 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Nacad
|
UTSW |
11 |
6,549,749 (GRCm39) |
small insertion |
probably benign |
|
PIT4402001:Nacad
|
UTSW |
11 |
6,548,621 (GRCm39) |
missense |
probably benign |
0.19 |
R0330:Nacad
|
UTSW |
11 |
6,550,903 (GRCm39) |
missense |
probably benign |
|
R0331:Nacad
|
UTSW |
11 |
6,549,441 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0409:Nacad
|
UTSW |
11 |
6,549,810 (GRCm39) |
missense |
probably benign |
0.00 |
R0612:Nacad
|
UTSW |
11 |
6,551,382 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0644:Nacad
|
UTSW |
11 |
6,549,486 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0829:Nacad
|
UTSW |
11 |
6,551,158 (GRCm39) |
missense |
probably benign |
0.18 |
R1483:Nacad
|
UTSW |
11 |
6,552,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R1583:Nacad
|
UTSW |
11 |
6,551,185 (GRCm39) |
missense |
probably benign |
0.08 |
R1905:Nacad
|
UTSW |
11 |
6,552,540 (GRCm39) |
missense |
probably benign |
0.15 |
R1907:Nacad
|
UTSW |
11 |
6,552,540 (GRCm39) |
missense |
probably benign |
0.15 |
R2361:Nacad
|
UTSW |
11 |
6,550,821 (GRCm39) |
missense |
probably benign |
|
R2979:Nacad
|
UTSW |
11 |
6,551,424 (GRCm39) |
missense |
probably benign |
0.06 |
R4192:Nacad
|
UTSW |
11 |
6,555,534 (GRCm39) |
missense |
probably benign |
0.44 |
R4381:Nacad
|
UTSW |
11 |
6,550,204 (GRCm39) |
missense |
probably benign |
0.18 |
R4539:Nacad
|
UTSW |
11 |
6,550,677 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4751:Nacad
|
UTSW |
11 |
6,555,726 (GRCm39) |
missense |
unknown |
|
R4944:Nacad
|
UTSW |
11 |
6,548,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4962:Nacad
|
UTSW |
11 |
6,549,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5102:Nacad
|
UTSW |
11 |
6,548,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R5189:Nacad
|
UTSW |
11 |
6,551,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R5296:Nacad
|
UTSW |
11 |
6,555,745 (GRCm39) |
missense |
unknown |
|
R5566:Nacad
|
UTSW |
11 |
6,552,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Nacad
|
UTSW |
11 |
6,552,387 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5725:Nacad
|
UTSW |
11 |
6,551,643 (GRCm39) |
missense |
probably benign |
0.15 |
R5748:Nacad
|
UTSW |
11 |
6,548,370 (GRCm39) |
nonsense |
probably null |
|
R5882:Nacad
|
UTSW |
11 |
6,548,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6089:Nacad
|
UTSW |
11 |
6,551,331 (GRCm39) |
missense |
probably benign |
0.03 |
R6117:Nacad
|
UTSW |
11 |
6,549,810 (GRCm39) |
missense |
probably benign |
0.00 |
R6161:Nacad
|
UTSW |
11 |
6,550,902 (GRCm39) |
missense |
probably benign |
|
R6351:Nacad
|
UTSW |
11 |
6,550,165 (GRCm39) |
nonsense |
probably null |
|
R6351:Nacad
|
UTSW |
11 |
6,549,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Nacad
|
UTSW |
11 |
6,551,196 (GRCm39) |
missense |
probably benign |
0.30 |
R6525:Nacad
|
UTSW |
11 |
6,552,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R6811:Nacad
|
UTSW |
11 |
6,549,400 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6931:Nacad
|
UTSW |
11 |
6,551,877 (GRCm39) |
missense |
probably benign |
0.14 |
R6966:Nacad
|
UTSW |
11 |
6,552,634 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7228:Nacad
|
UTSW |
11 |
6,548,412 (GRCm39) |
missense |
probably benign |
0.19 |
R7248:Nacad
|
UTSW |
11 |
6,548,589 (GRCm39) |
nonsense |
probably null |
|
R7556:Nacad
|
UTSW |
11 |
6,551,272 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7594:Nacad
|
UTSW |
11 |
6,552,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R7813:Nacad
|
UTSW |
11 |
6,549,071 (GRCm39) |
missense |
probably benign |
0.38 |
R7841:Nacad
|
UTSW |
11 |
6,551,031 (GRCm39) |
missense |
probably benign |
0.00 |
R8243:Nacad
|
UTSW |
11 |
6,552,643 (GRCm39) |
missense |
probably damaging |
0.96 |
R8810:Nacad
|
UTSW |
11 |
6,552,853 (GRCm39) |
missense |
probably benign |
0.15 |
R9042:Nacad
|
UTSW |
11 |
6,548,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9057:Nacad
|
UTSW |
11 |
6,550,876 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9114:Nacad
|
UTSW |
11 |
6,552,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9328:Nacad
|
UTSW |
11 |
6,552,417 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9394:Nacad
|
UTSW |
11 |
6,549,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R9595:Nacad
|
UTSW |
11 |
6,551,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R9755:Nacad
|
UTSW |
11 |
6,549,374 (GRCm39) |
critical splice donor site |
probably null |
|
R9760:Nacad
|
UTSW |
11 |
6,551,662 (GRCm39) |
missense |
probably benign |
0.02 |
T0975:Nacad
|
UTSW |
11 |
6,551,632 (GRCm39) |
missense |
probably benign |
0.17 |
T0975:Nacad
|
UTSW |
11 |
6,551,622 (GRCm39) |
missense |
probably benign |
0.03 |
T0975:Nacad
|
UTSW |
11 |
6,549,750 (GRCm39) |
small insertion |
probably benign |
|
X0011:Nacad
|
UTSW |
11 |
6,551,074 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Nacad
|
UTSW |
11 |
6,552,297 (GRCm39) |
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 |