Incidental Mutation 'R7841:Nacad'
ID |
606317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nacad
|
Ensembl Gene |
ENSMUSG00000041073 |
Gene Name |
NAC alpha domain containing |
Synonyms |
mKIAA0363 |
MMRRC Submission |
045895-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7841 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6551031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 720
(V720E)
|
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: V720E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073 AA Change: V720E
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
C |
5: 103,802,806 (GRCm39) |
K16R |
possibly damaging |
Het |
2810408A11Rik |
A |
G |
11: 69,790,112 (GRCm39) |
F210L |
probably benign |
Het |
Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
B9d1 |
A |
G |
11: 61,397,192 (GRCm39) |
Y29C |
possibly damaging |
Het |
Cald1 |
T |
C |
6: 34,722,696 (GRCm39) |
F115L |
unknown |
Het |
Ccnd1 |
A |
T |
7: 144,491,718 (GRCm39) |
M107K |
probably damaging |
Het |
Ccnh |
G |
A |
13: 85,337,712 (GRCm39) |
A20T |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,126,369 (GRCm39) |
D181G |
probably benign |
Het |
Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
Ces2b |
A |
G |
8: 105,561,692 (GRCm39) |
D262G |
probably benign |
Het |
Cic |
A |
G |
7: 24,985,192 (GRCm39) |
Y1146C |
probably damaging |
Het |
Cmtm1 |
G |
A |
8: 105,036,108 (GRCm39) |
R174C |
possibly damaging |
Het |
Cobl |
G |
T |
11: 12,203,324 (GRCm39) |
P1126H |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,245,876 (GRCm39) |
M460K |
unknown |
Het |
Cst11 |
G |
A |
2: 148,613,227 (GRCm39) |
R33W |
possibly damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,079,089 (GRCm39) |
V340E |
probably benign |
Het |
Dbt |
A |
T |
3: 116,339,746 (GRCm39) |
Q378L |
possibly damaging |
Het |
Dchs1 |
A |
G |
7: 105,412,180 (GRCm39) |
V1312A |
probably benign |
Het |
Eif3l |
T |
C |
15: 78,973,779 (GRCm39) |
M398T |
probably benign |
Het |
Faxc |
A |
G |
4: 21,958,584 (GRCm39) |
H247R |
probably benign |
Het |
Fbxl17 |
T |
C |
17: 63,794,820 (GRCm39) |
R421G |
probably damaging |
Het |
Fbxo3 |
T |
A |
2: 103,890,337 (GRCm39) |
D450E |
unknown |
Het |
Fmn1 |
T |
C |
2: 113,359,810 (GRCm39) |
|
probably null |
Het |
Foxs1 |
T |
A |
2: 152,774,907 (GRCm39) |
M49L |
possibly damaging |
Het |
Gucy1a2 |
A |
G |
9: 3,634,766 (GRCm39) |
E270G |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,874,695 (GRCm39) |
D1933G |
probably damaging |
Het |
Hspa4 |
G |
A |
11: 53,157,887 (GRCm39) |
A572V |
possibly damaging |
Het |
Ica1 |
T |
A |
6: 8,737,072 (GRCm39) |
D174V |
probably damaging |
Het |
Igfbp6 |
A |
T |
15: 102,056,352 (GRCm39) |
Q137L |
possibly damaging |
Het |
Il1r2 |
T |
C |
1: 40,144,628 (GRCm39) |
L105P |
probably damaging |
Het |
Iqca1 |
A |
T |
1: 89,987,337 (GRCm39) |
C72S |
|
Het |
Itgbl1 |
T |
C |
14: 124,209,645 (GRCm39) |
|
probably null |
Het |
Ivl |
T |
A |
3: 92,479,699 (GRCm39) |
Q122L |
possibly damaging |
Het |
Kdsr |
T |
C |
1: 106,671,415 (GRCm39) |
E198G |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,031,529 (GRCm39) |
T1510A |
probably benign |
Het |
Lrrc37a |
A |
T |
11: 103,391,931 (GRCm39) |
Y1165N |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,384,267 (GRCm39) |
|
probably null |
Het |
Myh3 |
A |
G |
11: 66,989,518 (GRCm39) |
E1546G |
probably damaging |
Het |
Napa |
A |
G |
7: 15,849,559 (GRCm39) |
D257G |
possibly damaging |
Het |
Nif3l1 |
T |
C |
1: 58,487,042 (GRCm39) |
V76A |
probably damaging |
Het |
Nkapd1 |
A |
C |
9: 50,521,716 (GRCm39) |
S68R |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,581,140 (GRCm39) |
S108N |
probably benign |
Het |
Npr1 |
A |
T |
3: 90,362,175 (GRCm39) |
L990H |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,224,372 (GRCm39) |
R322G |
unknown |
Het |
Or4a79 |
C |
A |
2: 89,552,309 (GRCm39) |
A49S |
probably benign |
Het |
Or4q3 |
G |
T |
14: 50,583,285 (GRCm39) |
Q174K |
probably benign |
Het |
Or52n2c |
T |
A |
7: 104,574,066 (GRCm39) |
I302F |
possibly damaging |
Het |
Or8c14-ps1 |
T |
G |
9: 38,101,777 (GRCm39) |
M252R |
unknown |
Het |
Or8c19-ps1 |
T |
A |
9: 38,220,817 (GRCm39) |
V242E |
unknown |
Het |
Ovch2 |
G |
T |
7: 107,393,298 (GRCm39) |
Q192K |
probably benign |
Het |
Pcca |
T |
A |
14: 122,800,384 (GRCm39) |
D91E |
probably benign |
Het |
Pole2 |
T |
C |
12: 69,251,032 (GRCm39) |
T444A |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,276 (GRCm39) |
K466E |
probably benign |
Het |
Prr35 |
A |
T |
17: 26,167,458 (GRCm39) |
Y26* |
probably null |
Het |
Ptgfrn |
A |
T |
3: 100,968,126 (GRCm39) |
I489N |
probably damaging |
Het |
Rassf1 |
A |
G |
9: 107,438,744 (GRCm39) |
*341W |
probably null |
Het |
Ret |
G |
A |
6: 118,132,321 (GRCm39) |
P1040S |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Slc6a17 |
A |
T |
3: 107,384,214 (GRCm39) |
Y377N |
possibly damaging |
Het |
Snrnp200 |
C |
A |
2: 127,078,754 (GRCm39) |
D1806E |
probably benign |
Het |
Synj2 |
G |
A |
17: 6,094,419 (GRCm39) |
R1215H |
unknown |
Het |
Tbc1d5 |
TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG |
TTGCTGCTG |
17: 51,106,950 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
T |
11: 98,913,176 (GRCm39) |
D85E |
probably damaging |
Het |
Tram1l1 |
A |
T |
3: 124,115,353 (GRCm39) |
Q171L |
probably damaging |
Het |
Tram1l1 |
G |
T |
3: 124,115,354 (GRCm39) |
Q171H |
probably damaging |
Het |
Tspyl4 |
A |
G |
10: 34,174,267 (GRCm39) |
H253R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,662,490 (GRCm39) |
I23V |
|
Het |
Ubr5 |
T |
C |
15: 37,981,150 (GRCm39) |
N2376D |
|
Het |
Ugt2b37 |
T |
C |
5: 87,398,489 (GRCm39) |
N316D |
probably benign |
Het |
Usp31 |
A |
C |
7: 121,247,679 (GRCm39) |
S1255A |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,276,535 (GRCm39) |
V334E |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,690,305 (GRCm39) |
|
probably null |
Het |
Vmn2r87 |
T |
A |
10: 130,333,095 (GRCm39) |
T52S |
probably benign |
Het |
Vrk2 |
C |
A |
11: 26,421,457 (GRCm39) |
L500F |
probably damaging |
Het |
Zan |
T |
A |
5: 137,435,064 (GRCm39) |
I2110F |
unknown |
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 |
|
R5864:Nacad
|
UTSW |
11 |
6,550,581 (GRCm39) |
missense |
probably benign |
|
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 |
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'- AGATGATGCTGTAGGAGACTCC -3'
(R):5'- GAGGTGTCACAATACCGCAG -3'
Sequencing Primer
(F):5'- ACTCCTGGGGTACTGTGACAATC -3'
(R):5'- GCAGGACCCCCTTATGACATTG -3'
|
Posted On |
2019-12-20 |