Incidental Mutation 'R9760:Nacad'
| ID |
732963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6597823-6606053 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6601662 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 510
(S510P)
|
| 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: S510P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: S510P
| 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: 99.7%
- 10x: 99.1%
- 20x: 97.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,581,930 (GRCm38) |
|
probably null |
Het |
| Adamts4 |
G |
A |
1: 171,258,765 (GRCm38) |
D709N |
probably benign |
Het |
| Arhgef12 |
G |
T |
9: 42,992,022 (GRCm38) |
D745E |
probably damaging |
Het |
| BC005561 |
T |
C |
5: 104,519,235 (GRCm38) |
V541A |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,976,553 (GRCm38) |
K883E |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 111,768,783 (GRCm38) |
I268V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,645,571 (GRCm38) |
S1037* |
probably null |
Het |
| Clca3b |
T |
C |
3: 144,846,849 (GRCm38) |
N142S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,782,054 (GRCm38) |
I564N |
probably damaging |
Het |
| Coq4 |
G |
T |
2: 29,788,470 (GRCm38) |
R36L |
probably benign |
Het |
| Dact3 |
G |
A |
7: 16,886,206 (GRCm38) |
S542N |
unknown |
Het |
| Dcaf1 |
A |
G |
9: 106,874,267 (GRCm38) |
D1480G |
unknown |
Het |
| Dcdc2a |
C |
T |
13: 25,205,460 (GRCm38) |
T457I |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,683,885 (GRCm38) |
V572A |
probably damaging |
Het |
| Ddx54 |
C |
T |
5: 120,623,607 (GRCm38) |
R483C |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 149,068,499 (GRCm38) |
S152F |
probably benign |
Het |
| Efcab14 |
C |
T |
4: 115,758,875 (GRCm38) |
H252Y |
probably benign |
Het |
| Efhb |
A |
T |
17: 53,463,270 (GRCm38) |
F4I |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 188,043,372 (GRCm38) |
D32G |
probably benign |
Het |
| Fam126a |
T |
C |
5: 23,979,574 (GRCm38) |
Q302R |
possibly damaging |
Het |
| Fam160b2 |
A |
C |
14: 70,590,181 (GRCm38) |
V158G |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,158,950 (GRCm38) |
A267E |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,929,846 (GRCm38) |
I1992T |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,054,515 (GRCm38) |
S169G |
|
Het |
| Galnt10 |
G |
A |
11: 57,765,688 (GRCm38) |
V233I |
probably benign |
Het |
| Gbf1 |
C |
A |
19: 46,255,698 (GRCm38) |
N210K |
probably benign |
Het |
| Gbp3 |
T |
G |
3: 142,570,522 (GRCm38) |
S460A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,915,341 (GRCm38) |
H341L |
probably benign |
Het |
| Gm14025 |
A |
T |
2: 129,038,579 (GRCm38) |
S476T |
|
Het |
| Gm5592 |
A |
T |
7: 41,289,810 (GRCm38) |
I839F |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,431,448 (GRCm38) |
D467G |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,714,213 (GRCm38) |
M844K |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,711,592 (GRCm38) |
D368G |
probably benign |
Het |
| Herc2 |
G |
C |
7: 56,163,911 (GRCm38) |
|
probably null |
Het |
| Ins2 |
T |
A |
7: 142,679,448 (GRCm38) |
H29L |
probably damaging |
Het |
| Ipo13 |
T |
A |
4: 117,905,581 (GRCm38) |
Y275F |
probably benign |
Het |
| Kcnj15 |
T |
A |
16: 95,295,624 (GRCm38) |
M35K |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,148,683 (GRCm38) |
V321M |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,430,152 (GRCm38) |
Y332* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,448,212 (GRCm38) |
Q237R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 79,120,832 (GRCm38) |
C168Y |
unknown |
Het |
| Muc5ac |
A |
G |
7: 141,807,248 (GRCm38) |
K1432R |
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,692,967 (GRCm38) |
L117P |
possibly damaging |
Het |
| Olfr119 |
T |
C |
17: 37,701,543 (GRCm38) |
L291P |
probably damaging |
Het |
| Olfr312 |
A |
G |
11: 58,832,026 (GRCm38) |
R291G |
probably damaging |
Het |
| Olfr938 |
A |
T |
9: 39,077,975 (GRCm38) |
F257I |
possibly damaging |
Het |
| Pkdrej |
T |
C |
15: 85,821,067 (GRCm38) |
K223E |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,839,180 (GRCm38) |
Y4046* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,503,431 (GRCm38) |
N1767D |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,843,135 (GRCm38) |
P202Q |
probably benign |
Het |
| R3hdm2 |
G |
T |
10: 127,444,313 (GRCm38) |
M18I |
unknown |
Het |
| Rab35 |
C |
A |
5: 115,640,165 (GRCm38) |
D63E |
probably damaging |
Het |
| Ribc2 |
T |
A |
15: 85,143,367 (GRCm38) |
Y350N |
probably benign |
Het |
| Sec63 |
A |
G |
10: 42,828,948 (GRCm38) |
I733V |
probably benign |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,133,281 (GRCm38) |
|
probably null |
Het |
| Slc38a4 |
T |
C |
15: 96,998,451 (GRCm38) |
K512E |
probably damaging |
Het |
| Stk35 |
G |
A |
2: 129,800,685 (GRCm38) |
V49I |
probably benign |
Het |
| Tango6 |
A |
G |
8: 106,850,279 (GRCm38) |
E1055G |
probably damaging |
Het |
| Tas2r137 |
A |
G |
6: 40,492,102 (GRCm38) |
I289V |
probably benign |
Het |
| Tll2 |
C |
T |
19: 41,130,645 (GRCm38) |
V215M |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,780,592 (GRCm38) |
N98K |
probably benign |
Het |
| Trav9n-4 |
C |
A |
14: 53,294,833 (GRCm38) |
A48E |
probably benign |
Het |
| Vmn1r192 |
A |
G |
13: 22,187,840 (GRCm38) |
F70S |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,633,252 (GRCm38) |
V76A |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,746,294 (GRCm38) |
T502S |
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 |
|
|
R5864:Nacad
|
UTSW |
11 |
6,600,581 (GRCm38) |
missense |
probably benign |
|
|
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 |
|
|
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'- ATACTTGTTCTACAACCAGGTCAAC -3'
(R):5'- CATCATCGAGGGCATGGATG -3'
Sequencing Primer
(F):5'- ACAACCAGGTCAACTTTGTTCC -3'
(R):5'- AGGGCATGGATGAGGCCTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation