Incidental Mutation 'R1583:Nacad'
| ID |
177263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| MMRRC Submission |
039620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1583 (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 6551185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 669
(T669S)
|
| 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: T669S
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: T669S
| 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
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,030,528 (GRCm39) |
S691P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,265,912 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
G |
1: 72,718,714 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
T |
6: 87,623,015 (GRCm39) |
Y355N |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,366,350 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,429,373 (GRCm39) |
I182T |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,603 (GRCm39) |
D88G |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,242,181 (GRCm39) |
N491S |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,808,770 (GRCm39) |
S1415P |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,779,131 (GRCm39) |
V331A |
probably benign |
Het |
| Decr2 |
T |
C |
17: 26,301,998 (GRCm39) |
E244G |
probably damaging |
Het |
| Dhrs11 |
A |
G |
11: 84,713,943 (GRCm39) |
M136T |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,732,733 (GRCm39) |
Q126* |
probably null |
Het |
| Fam111a |
T |
A |
19: 12,565,142 (GRCm39) |
V297D |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,062,118 (GRCm39) |
L136R |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,167,118 (GRCm39) |
H613Q |
possibly damaging |
Het |
| Frk |
A |
T |
10: 34,467,806 (GRCm39) |
|
probably null |
Het |
| Gm10392 |
T |
A |
11: 77,408,307 (GRCm39) |
D104V |
probably benign |
Het |
| Gpn1 |
A |
G |
5: 31,654,682 (GRCm39) |
E78G |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,716,905 (GRCm39) |
Y506C |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,247,576 (GRCm39) |
S274L |
possibly damaging |
Het |
| Immp2l |
G |
T |
12: 41,750,548 (GRCm39) |
|
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,094,081 (GRCm39) |
F228L |
possibly damaging |
Het |
| Lamc1 |
T |
A |
1: 153,119,224 (GRCm39) |
|
probably null |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lratd1 |
G |
A |
12: 14,200,409 (GRCm39) |
A106V |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,432,330 (GRCm39) |
V15A |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,293,621 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,794,441 (GRCm39) |
H2590Q |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,588,286 (GRCm39) |
I238T |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,695,956 (GRCm39) |
D230E |
probably benign |
Het |
| Nin |
C |
T |
12: 70,078,512 (GRCm39) |
M1691I |
probably benign |
Het |
| Nlrp4d |
C |
T |
7: 10,116,164 (GRCm39) |
A203T |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,046 (GRCm39) |
F177L |
probably benign |
Het |
| Or10q12 |
A |
T |
19: 13,745,874 (GRCm39) |
H56L |
probably benign |
Het |
| Or4c106 |
T |
G |
2: 88,682,606 (GRCm39) |
F104C |
probably damaging |
Het |
| Or4k5 |
C |
A |
14: 50,386,231 (GRCm39) |
M33I |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,770 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,394 (GRCm39) |
V212A |
probably benign |
Het |
| Osbp |
C |
A |
19: 11,955,193 (GRCm39) |
Q282K |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,790,256 (GRCm39) |
S177G |
probably damaging |
Het |
| Pax1 |
A |
G |
2: 147,208,175 (GRCm39) |
H261R |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,647 (GRCm39) |
L274F |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,188,049 (GRCm39) |
S3420P |
probably benign |
Het |
| Prss3 |
A |
C |
6: 41,354,561 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,400,563 (GRCm39) |
T751A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,623,239 (GRCm39) |
V126A |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,588,002 (GRCm39) |
D258E |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,676,481 (GRCm39) |
V143A |
possibly damaging |
Het |
| Sarm1 |
G |
A |
11: 78,374,153 (GRCm39) |
Q625* |
probably null |
Het |
| Scgb1b21 |
T |
G |
7: 33,227,092 (GRCm39) |
|
noncoding transcript |
Het |
| Scrn1 |
A |
T |
6: 54,497,754 (GRCm39) |
V279E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,148,634 (GRCm39) |
T1670A |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,640,122 (GRCm39) |
I305F |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,042,685 (GRCm39) |
T918A |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,389 (GRCm39) |
H180Q |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,193 (GRCm39) |
R260* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,732,109 (GRCm39) |
D1249G |
probably benign |
Het |
| Tgtp1 |
C |
G |
11: 48,878,357 (GRCm39) |
G116A |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,045,634 (GRCm39) |
Y317H |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,702,199 (GRCm39) |
K282N |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,054,287 (GRCm39) |
W1308R |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,674,371 (GRCm39) |
K878N |
possibly damaging |
Het |
| Zfp41 |
T |
A |
15: 75,490,140 (GRCm39) |
S31T |
possibly 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 |
|
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'- TGAAGGTGATGCTACTGGGGCAAC -3'
(R):5'- AGCTTGTGTCCAGTCCTTCCTGAG -3'
Sequencing Primer
(F):5'- GGTGACCACAACTTCAGGTTC -3'
(R):5'- TTCCTGAGAAGAAGGAAGAAGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation