Incidental Mutation 'R7556:Nacad'
ID |
584788 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nacad
|
Ensembl Gene |
ENSMUSG00000041073 |
Gene Name |
NAC alpha domain containing |
Synonyms |
mKIAA0363 |
MMRRC Submission |
045624-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7556 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6551272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 640
(V640M)
|
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 |
possibly damaging
Transcript: ENSMUST00000045713
AA Change: V640M
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073 AA Change: V640M
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
C |
T |
9: 46,221,611 (GRCm39) |
W11* |
probably null |
Het |
A2ml1 |
A |
G |
6: 128,546,927 (GRCm39) |
S401P |
probably damaging |
Het |
Adamtsl1 |
T |
A |
4: 86,195,358 (GRCm39) |
Y592N |
probably benign |
Het |
Adh6b |
C |
T |
3: 138,058,546 (GRCm39) |
T76I |
probably damaging |
Het |
Aebp2 |
C |
A |
6: 140,623,137 (GRCm39) |
P503Q |
probably benign |
Het |
Ankrd2 |
A |
G |
19: 42,028,839 (GRCm39) |
D134G |
|
Het |
Atf7ip |
T |
C |
6: 136,538,239 (GRCm39) |
S491P |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,680,991 (GRCm39) |
D832G |
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,643,278 (GRCm39) |
V389I |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,178,589 (GRCm39) |
S2383P |
probably damaging |
Het |
Brd9 |
A |
G |
13: 74,092,886 (GRCm39) |
D292G |
possibly damaging |
Het |
Cacna1e |
G |
T |
1: 154,348,419 (GRCm39) |
Q781K |
probably benign |
Het |
Ccdc9 |
T |
C |
7: 16,018,491 (GRCm39) |
|
probably benign |
Het |
Cdc42ep4 |
C |
G |
11: 113,619,366 (GRCm39) |
E342Q |
probably damaging |
Het |
Celf3 |
C |
T |
3: 94,387,590 (GRCm39) |
T54M |
probably damaging |
Het |
Cenpn |
T |
C |
8: 117,664,008 (GRCm39) |
Y267H |
probably damaging |
Het |
Chrnb4 |
T |
C |
9: 54,942,339 (GRCm39) |
T312A |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,382,521 (GRCm39) |
T383S |
probably damaging |
Het |
Cln3 |
T |
C |
7: 126,174,242 (GRCm39) |
Q327R |
probably damaging |
Het |
Cnep1r1 |
T |
C |
8: 88,851,761 (GRCm39) |
L50P |
probably damaging |
Het |
Cnot6 |
T |
C |
11: 49,566,144 (GRCm39) |
N512S |
probably benign |
Het |
Col7a1 |
T |
A |
9: 108,811,533 (GRCm39) |
|
probably null |
Het |
Cryba4 |
C |
T |
5: 112,398,969 (GRCm39) |
R25Q |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,290,389 (GRCm39) |
I1260V |
probably null |
Het |
Dock2 |
G |
T |
11: 34,611,778 (GRCm39) |
T195K |
probably benign |
Het |
Dpp9 |
A |
T |
17: 56,497,012 (GRCm39) |
I740N |
possibly damaging |
Het |
Fbxl21 |
A |
T |
13: 56,674,741 (GRCm39) |
N31Y |
probably benign |
Het |
Frat1 |
G |
A |
19: 41,818,959 (GRCm39) |
R118Q |
possibly damaging |
Het |
Gna11 |
A |
G |
10: 81,367,208 (GRCm39) |
F228S |
|
Het |
Golgb1 |
A |
T |
16: 36,736,155 (GRCm39) |
M1842L |
probably benign |
Het |
Got1 |
A |
T |
19: 43,491,469 (GRCm39) |
M327K |
probably damaging |
Het |
H4c9 |
A |
G |
13: 22,225,414 (GRCm39) |
I27T |
probably damaging |
Het |
Hexa |
T |
A |
9: 59,470,582 (GRCm39) |
L468Q |
probably damaging |
Het |
Ift57 |
G |
A |
16: 49,526,491 (GRCm39) |
V178I |
probably benign |
Het |
Kbtbd13 |
T |
C |
9: 65,298,757 (GRCm39) |
T60A |
probably benign |
Het |
Klk1b5 |
A |
G |
7: 43,496,649 (GRCm39) |
T194A |
probably damaging |
Het |
Krtap16-3 |
C |
A |
16: 88,759,666 (GRCm39) |
G16C |
unknown |
Het |
Lamb3 |
T |
C |
1: 193,014,757 (GRCm39) |
S639P |
probably benign |
Het |
Mapt |
C |
A |
11: 104,189,528 (GRCm39) |
P182Q |
probably benign |
Het |
Mcf2l |
A |
G |
8: 13,023,071 (GRCm39) |
T86A |
probably damaging |
Het |
Mecom |
G |
T |
3: 30,041,220 (GRCm39) |
H125N |
probably benign |
Het |
Med18 |
T |
C |
4: 132,187,247 (GRCm39) |
H84R |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,307,439 (GRCm39) |
Y798C |
|
Het |
Mycbp |
T |
C |
4: 123,799,060 (GRCm39) |
Y17H |
probably damaging |
Het |
Ncoa1 |
C |
T |
12: 4,320,794 (GRCm39) |
V1092I |
probably damaging |
Het |
Nomo1 |
A |
G |
7: 45,715,642 (GRCm39) |
E696G |
probably damaging |
Het |
Notch4 |
G |
A |
17: 34,794,444 (GRCm39) |
C741Y |
probably damaging |
Het |
Or10g7 |
A |
G |
9: 39,905,978 (GRCm39) |
N291D |
probably damaging |
Het |
Or6d12 |
C |
T |
6: 116,493,697 (GRCm39) |
Q320* |
probably null |
Het |
Osbpl10 |
C |
A |
9: 115,036,692 (GRCm39) |
H229Q |
probably damaging |
Het |
Pif1 |
A |
T |
9: 65,496,993 (GRCm39) |
|
probably null |
Het |
Plk2 |
T |
G |
13: 110,533,122 (GRCm39) |
|
probably null |
Het |
Ppp1r42 |
T |
C |
1: 10,065,408 (GRCm39) |
H172R |
probably benign |
Het |
Ring1 |
A |
G |
17: 34,240,688 (GRCm39) |
I363T |
possibly damaging |
Het |
Rnf168 |
T |
G |
16: 32,117,863 (GRCm39) |
Y475D |
probably damaging |
Het |
Sbf2 |
T |
A |
7: 109,913,260 (GRCm39) |
K1671N |
probably benign |
Het |
Sema6d |
A |
G |
2: 124,496,109 (GRCm39) |
N51S |
probably damaging |
Het |
Setx |
C |
A |
2: 29,036,505 (GRCm39) |
Q997K |
possibly damaging |
Het |
Skint5 |
T |
G |
4: 113,425,162 (GRCm39) |
Q1088P |
unknown |
Het |
Slc22a27 |
T |
C |
19: 7,843,119 (GRCm39) |
D528G |
probably damaging |
Het |
Slc6a7 |
T |
A |
18: 61,140,514 (GRCm39) |
K173* |
probably null |
Het |
Smc2 |
T |
C |
4: 52,457,379 (GRCm39) |
F380L |
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,849,798 (GRCm39) |
M777V |
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,837,307 (GRCm39) |
N319I |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,799,857 (GRCm39) |
V93A |
|
Het |
Tbx20 |
T |
C |
9: 24,661,573 (GRCm39) |
|
probably null |
Het |
Trbv20 |
G |
A |
6: 41,165,715 (GRCm39) |
V47I |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,782,155 (GRCm39) |
C192* |
probably null |
Het |
Tsbp1 |
A |
T |
17: 34,656,691 (GRCm39) |
I103F |
unknown |
Het |
Tulp2 |
A |
G |
7: 45,168,005 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
A |
1: 188,689,690 (GRCm39) |
P5084Q |
probably benign |
Het |
Virma |
T |
C |
4: 11,518,927 (GRCm39) |
Y675H |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,898,093 (GRCm39) |
N369K |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,695,233 (GRCm39) |
M393K |
probably damaging |
Het |
Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
Xpot |
A |
G |
10: 121,449,411 (GRCm39) |
S30P |
probably benign |
Het |
Zfp947 |
T |
C |
17: 22,364,597 (GRCm39) |
Y359C |
probably benign |
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 |
|
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'- AATACCACGGGGACATCAGG -3'
(R):5'- TGGGGAACAAAGTTGACCTG -3'
Sequencing Primer
(F):5'- GGAGTACTGTGACACACCCTTC -3'
(R):5'- AAGTATCCAAGGCTCTTCCTGAG -3'
|
Posted On |
2019-10-17 |