Incidental Mutation 'R1483:Nacad'
ID |
165715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nacad
|
Ensembl Gene |
ENSMUSG00000041073 |
Gene Name |
NAC alpha domain containing |
Synonyms |
mKIAA0363 |
MMRRC Submission |
039536-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1483 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6552217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 325
(S325P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045713]
|
AlphaFold |
Q5SWP3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045713
AA Change: S325P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073 AA Change: S325P
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: ENSMUST00000177050
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177391
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
A |
7: 133,531,754 (GRCm39) |
T494S |
probably benign |
Het |
Akap6 |
C |
T |
12: 52,842,870 (GRCm39) |
P73S |
probably damaging |
Het |
Amotl2 |
A |
T |
9: 102,608,096 (GRCm39) |
T763S |
probably benign |
Het |
Brd10 |
G |
A |
19: 29,696,745 (GRCm39) |
P916L |
possibly damaging |
Het |
Cdc5l |
A |
T |
17: 45,719,290 (GRCm39) |
V541D |
possibly damaging |
Het |
Chl1 |
A |
G |
6: 103,624,248 (GRCm39) |
Y52C |
probably damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,931,733 (GRCm39) |
E255G |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,243,155 (GRCm39) |
S126P |
probably benign |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Drc3 |
A |
G |
11: 60,279,715 (GRCm39) |
I427V |
probably benign |
Het |
Drg2 |
T |
C |
11: 60,350,353 (GRCm39) |
I104T |
probably damaging |
Het |
Dst |
C |
T |
1: 34,292,079 (GRCm39) |
A932V |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,757,164 (GRCm39) |
D880E |
unknown |
Het |
Elf1 |
T |
A |
14: 79,818,078 (GRCm39) |
D569E |
probably benign |
Het |
Esp6 |
T |
A |
17: 40,873,816 (GRCm39) |
M1K |
probably null |
Het |
Fer1l6 |
T |
C |
15: 58,509,819 (GRCm39) |
V1427A |
possibly damaging |
Het |
Gsta1 |
A |
T |
9: 78,149,775 (GRCm39) |
K196M |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,169 (GRCm39) |
I110F |
probably damaging |
Het |
H2-DMa |
T |
A |
17: 34,354,724 (GRCm39) |
V27E |
possibly damaging |
Het |
H2-T10 |
A |
T |
17: 36,432,038 (GRCm39) |
S2T |
probably benign |
Het |
Hadhb |
A |
G |
5: 30,374,492 (GRCm39) |
|
probably null |
Het |
Hoxa11 |
G |
T |
6: 52,220,436 (GRCm39) |
D282E |
probably damaging |
Het |
Ifit1bl1 |
A |
G |
19: 34,572,041 (GRCm39) |
Y139H |
possibly damaging |
Het |
Ift27 |
A |
G |
15: 78,049,436 (GRCm39) |
V88A |
possibly damaging |
Het |
Knop1 |
C |
T |
7: 118,452,273 (GRCm39) |
A149T |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,404,770 (GRCm39) |
K597I |
probably damaging |
Het |
Med16 |
A |
T |
10: 79,738,934 (GRCm39) |
I284N |
possibly damaging |
Het |
Melk |
T |
A |
4: 44,308,937 (GRCm39) |
I98K |
probably damaging |
Het |
Mst1 |
G |
T |
9: 107,958,849 (GRCm39) |
G127V |
probably benign |
Het |
Nbea |
G |
A |
3: 55,910,211 (GRCm39) |
P1328L |
probably benign |
Het |
Nek5 |
C |
T |
8: 22,586,806 (GRCm39) |
S335N |
probably benign |
Het |
Nif3l1 |
C |
A |
1: 58,486,885 (GRCm39) |
R24S |
probably benign |
Het |
Nlrp14 |
T |
G |
7: 106,789,329 (GRCm39) |
N39K |
possibly damaging |
Het |
Nup50 |
T |
A |
15: 84,823,928 (GRCm39) |
V427D |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,383,714 (GRCm39) |
P78L |
probably damaging |
Het |
Or5an9 |
T |
A |
19: 12,187,114 (GRCm39) |
Y61* |
probably null |
Het |
Pate8 |
G |
A |
9: 36,492,620 (GRCm39) |
S95L |
probably benign |
Het |
Pnkd |
A |
G |
1: 74,388,550 (GRCm39) |
Y242C |
probably benign |
Het |
Ppm1g |
T |
C |
5: 31,360,465 (GRCm39) |
D423G |
probably benign |
Het |
Pramel32 |
T |
A |
4: 88,547,071 (GRCm39) |
Q116L |
probably damaging |
Het |
Prkci |
A |
T |
3: 31,097,941 (GRCm39) |
N464Y |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,093,161 (GRCm39) |
V494M |
possibly damaging |
Het |
Rapgef4 |
T |
G |
2: 71,885,370 (GRCm39) |
|
probably null |
Het |
Rbak |
T |
C |
5: 143,160,099 (GRCm39) |
E318G |
probably damaging |
Het |
Rora |
A |
G |
9: 69,271,667 (GRCm39) |
D215G |
probably benign |
Het |
Rp1l1 |
C |
T |
14: 64,266,496 (GRCm39) |
T694I |
possibly damaging |
Het |
Scrib |
A |
G |
15: 75,929,771 (GRCm39) |
L1032P |
probably damaging |
Het |
Sectm1b |
G |
A |
11: 120,946,652 (GRCm39) |
T81M |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,942,518 (GRCm39) |
F97L |
possibly damaging |
Het |
Socs3 |
A |
T |
11: 117,858,394 (GRCm39) |
Y221* |
probably null |
Het |
Spata31d1e |
A |
T |
13: 59,890,717 (GRCm39) |
S368T |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,498 (GRCm39) |
H850L |
probably benign |
Het |
Tex44 |
G |
T |
1: 86,354,908 (GRCm39) |
Q272H |
probably damaging |
Het |
Tgfbr2 |
A |
C |
9: 115,938,625 (GRCm39) |
S426A |
probably benign |
Het |
Tmem39b |
T |
C |
4: 129,570,456 (GRCm39) |
Y461C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,555,337 (GRCm39) |
D30556V |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,475,455 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
T |
C |
7: 85,208,375 (GRCm39) |
I701V |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,154,129 (GRCm39) |
L622Q |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,822,923 (GRCm39) |
H1347L |
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,234,863 (GRCm39) |
I540V |
probably benign |
Het |
Xylt2 |
A |
C |
11: 94,560,393 (GRCm39) |
M294R |
probably benign |
Het |
Zfp788 |
T |
G |
7: 41,298,499 (GRCm39) |
Y326* |
probably null |
Het |
Zim1 |
A |
G |
7: 6,685,124 (GRCm39) |
F109L |
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 |
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'- CAGCAGTAGCAGCTACATCCTCTTC -3'
(R):5'- GGATGAGTTATTGGACTCCACGCC -3'
Sequencing Primer
(F):5'- CCACCTGGAAGATGAGGCTAC -3'
(R):5'- GACTCCACGCCAGCCTC -3'
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Posted On |
2014-03-28 |