Incidental Mutation 'R0331:Nacad'
ID |
26071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nacad
|
Ensembl Gene |
ENSMUSG00000041073 |
Gene Name |
NAC alpha domain containing |
Synonyms |
mKIAA0363 |
MMRRC Submission |
038540-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0331 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6549441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1250
(Q1250L)
|
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: Q1250L
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073 AA Change: Q1250L
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 |
unknown
Transcript: ENSMUST00000177391
AA Change: Q166L
|
Meta Mutation Damage Score |
0.1559 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.8%
- 20x: 91.7%
|
Validation Efficiency |
100% (81/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
A |
8: 79,956,021 (GRCm39) |
T79S |
probably benign |
Het |
Abtb1 |
T |
C |
6: 88,817,684 (GRCm39) |
|
probably benign |
Het |
Acot12 |
G |
A |
13: 91,908,183 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
A |
1: 171,078,541 (GRCm39) |
S54T |
probably benign |
Het |
Adgrl4 |
T |
C |
3: 151,203,577 (GRCm39) |
S96P |
probably benign |
Het |
Aip |
G |
T |
19: 4,168,247 (GRCm39) |
T40K |
probably damaging |
Het |
Anapc4 |
A |
G |
5: 53,012,984 (GRCm39) |
|
probably benign |
Het |
Asz1 |
A |
G |
6: 18,103,618 (GRCm39) |
|
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,538,161 (GRCm39) |
T465A |
possibly damaging |
Het |
Atp11a |
C |
T |
8: 12,866,953 (GRCm39) |
Q127* |
probably null |
Het |
Axin1 |
A |
G |
17: 26,362,081 (GRCm39) |
R142G |
probably damaging |
Het |
Bcat1 |
T |
A |
6: 144,993,040 (GRCm39) |
E86V |
probably benign |
Het |
Brd4 |
G |
A |
17: 32,421,489 (GRCm39) |
P749L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,496,394 (GRCm39) |
|
probably null |
Het |
Capza2 |
A |
T |
6: 17,665,102 (GRCm39) |
N237I |
probably benign |
Het |
Cd2ap |
A |
T |
17: 43,116,192 (GRCm39) |
V556E |
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,968,460 (GRCm39) |
P124L |
probably damaging |
Het |
Cfap65 |
G |
T |
1: 74,968,461 (GRCm39) |
P124T |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,235,225 (GRCm39) |
V488A |
possibly damaging |
Het |
Ckmt1 |
A |
T |
2: 121,193,337 (GRCm39) |
|
probably null |
Het |
Cmya5 |
T |
G |
13: 93,280,911 (GRCm39) |
E35A |
possibly damaging |
Het |
Col7a1 |
A |
G |
9: 108,796,570 (GRCm39) |
|
probably benign |
Het |
Crmp1 |
C |
T |
5: 37,422,657 (GRCm39) |
L155F |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,291,227 (GRCm39) |
T33S |
probably benign |
Het |
Dhdh |
T |
C |
7: 45,137,544 (GRCm39) |
K48E |
probably benign |
Het |
Dlst |
T |
C |
12: 85,165,586 (GRCm39) |
V103A |
probably damaging |
Het |
Dohh |
C |
T |
10: 81,223,646 (GRCm39) |
T233I |
probably benign |
Het |
Dvl2 |
C |
A |
11: 69,897,043 (GRCm39) |
|
probably benign |
Het |
Eipr1 |
C |
T |
12: 28,914,703 (GRCm39) |
Q286* |
probably null |
Het |
Enpp6 |
C |
A |
8: 47,535,484 (GRCm39) |
T343K |
probably damaging |
Het |
Fbxw11 |
T |
A |
11: 32,661,895 (GRCm39) |
F112I |
probably damaging |
Het |
Gdpd4 |
T |
A |
7: 97,622,215 (GRCm39) |
N231K |
probably benign |
Het |
Gm6370 |
A |
T |
5: 146,430,576 (GRCm39) |
T254S |
probably benign |
Het |
Hapln4 |
G |
T |
8: 70,537,159 (GRCm39) |
Q31H |
probably damaging |
Het |
Hic1 |
T |
A |
11: 75,056,316 (GRCm39) |
T858S |
possibly damaging |
Het |
Isg20l2 |
T |
C |
3: 87,839,092 (GRCm39) |
L101P |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,559,799 (GRCm39) |
Y485H |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,905,853 (GRCm39) |
|
probably null |
Het |
Itln1 |
T |
C |
1: 171,359,117 (GRCm39) |
N62S |
probably damaging |
Het |
Kdm4b |
T |
C |
17: 56,693,289 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,226,479 (GRCm39) |
|
probably benign |
Het |
Lman2 |
A |
T |
13: 55,500,829 (GRCm39) |
H123Q |
probably damaging |
Het |
Lztr1 |
T |
A |
16: 17,342,101 (GRCm39) |
|
probably benign |
Het |
Myo3b |
G |
T |
2: 69,925,605 (GRCm39) |
G24V |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,161,981 (GRCm39) |
M431K |
unknown |
Het |
Nek9 |
T |
A |
12: 85,374,149 (GRCm39) |
|
probably benign |
Het |
Neu1 |
C |
A |
17: 35,153,146 (GRCm39) |
N255K |
possibly damaging |
Het |
Nf2 |
T |
A |
11: 4,744,914 (GRCm39) |
T75S |
probably benign |
Het |
Nipal4 |
T |
A |
11: 46,041,040 (GRCm39) |
D385V |
probably damaging |
Het |
Olah |
T |
A |
2: 3,343,511 (GRCm39) |
N245I |
probably damaging |
Het |
Or5p54 |
G |
T |
7: 107,554,077 (GRCm39) |
L76F |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,767,030 (GRCm39) |
T90S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,176,708 (GRCm39) |
|
probably null |
Het |
Parva |
A |
G |
7: 112,144,005 (GRCm39) |
M98V |
probably benign |
Het |
Paxbp1 |
T |
A |
16: 90,834,255 (GRCm39) |
D177V |
possibly damaging |
Het |
Paxip1 |
A |
G |
5: 27,970,230 (GRCm39) |
I587T |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,730,390 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,355,713 (GRCm39) |
D1074E |
probably damaging |
Het |
Pef1 |
A |
T |
4: 130,021,241 (GRCm39) |
D265V |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,893,794 (GRCm39) |
E870K |
possibly damaging |
Het |
Plscr4 |
G |
A |
9: 92,364,695 (GRCm39) |
G40D |
probably damaging |
Het |
Psg18 |
A |
G |
7: 18,087,233 (GRCm39) |
Y142H |
probably benign |
Het |
Ptchd3 |
A |
T |
11: 121,733,017 (GRCm39) |
M636L |
probably benign |
Het |
Rab2a |
A |
G |
4: 8,572,559 (GRCm39) |
D51G |
probably benign |
Het |
Rnf139 |
T |
A |
15: 58,771,755 (GRCm39) |
D593E |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,217,552 (GRCm39) |
N422S |
probably benign |
Het |
Shprh |
T |
C |
10: 11,069,914 (GRCm39) |
|
probably benign |
Het |
Slc7a6os |
A |
G |
8: 106,937,199 (GRCm39) |
I87T |
probably damaging |
Het |
Slc7a7 |
A |
G |
14: 54,615,381 (GRCm39) |
|
probably benign |
Het |
Spc24 |
G |
T |
9: 21,668,609 (GRCm39) |
N129K |
possibly damaging |
Het |
Strip2 |
C |
T |
6: 29,926,559 (GRCm39) |
T148I |
probably benign |
Het |
Tmem150c |
A |
C |
5: 100,234,132 (GRCm39) |
|
probably null |
Het |
Trav13-5 |
A |
G |
14: 54,033,205 (GRCm39) |
N38S |
probably benign |
Het |
Ttn |
G |
T |
2: 76,641,364 (GRCm39) |
Y11801* |
probably null |
Het |
Usp37 |
A |
T |
1: 74,493,223 (GRCm39) |
L688* |
probably null |
Het |
Usp38 |
T |
C |
8: 81,722,469 (GRCm39) |
I351V |
probably benign |
Het |
Vav2 |
T |
A |
2: 27,186,187 (GRCm39) |
M223L |
probably benign |
Het |
Wdr36 |
A |
G |
18: 32,985,968 (GRCm39) |
I557M |
possibly damaging |
Het |
Wwc2 |
A |
T |
8: 48,333,239 (GRCm39) |
M259K |
probably benign |
Het |
Znfx1 |
G |
A |
2: 166,888,898 (GRCm39) |
S770L |
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 |
|
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 |
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'- TACTCATCCAGCTCACTGGACGAC -3'
(R):5'- AGAATAGGTTTCTGGACCCTGACCC -3'
Sequencing Primer
(F):5'- ATGAGGGCCTCTTACTATGCAG -3'
(R):5'- TACCCTCGACAGGGCATC -3'
|
Posted On |
2013-04-16 |