Incidental Mutation 'R6525:Nacad'
| ID |
521727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| MMRRC Submission |
044651-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6525 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6552255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 312
(L312P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045713]
|
| AlphaFold |
Q5SWP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045713
AA Change: L312P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: L312P
| 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
|
| Meta Mutation Damage Score |
0.0950 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
96% (71/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,931,308 (GRCm39) |
E1447G |
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,392,337 (GRCm39) |
N261S |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,609,243 (GRCm39) |
G859* |
probably null |
Het |
| Agbl3 |
A |
T |
6: 34,780,529 (GRCm39) |
K496* |
probably null |
Het |
| Antxrl |
A |
T |
14: 33,782,363 (GRCm39) |
D182V |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 67,933,496 (GRCm39) |
L559P |
possibly damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,663 (GRCm39) |
S60T |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,176,048 (GRCm39) |
Y1931H |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,775,574 (GRCm39) |
E49V |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,339 (GRCm39) |
N160D |
possibly damaging |
Het |
| Crem |
C |
A |
18: 3,268,070 (GRCm39) |
R267L |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,844,145 (GRCm39) |
|
probably null |
Het |
| Ddx6 |
T |
C |
9: 44,534,926 (GRCm39) |
I127T |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,606,304 (GRCm39) |
Y2094N |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,202,216 (GRCm39) |
N181K |
probably damaging |
Het |
| Dusp7 |
A |
G |
9: 106,246,483 (GRCm39) |
K163E |
possibly damaging |
Het |
| Dynlt1a |
T |
A |
17: 6,362,014 (GRCm39) |
T55S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,607 (GRCm39) |
N451S |
probably benign |
Het |
| Faap100 |
C |
A |
11: 120,269,590 (GRCm39) |
|
probably null |
Het |
| Fam53a |
T |
C |
5: 33,765,262 (GRCm39) |
N148S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,174,626 (GRCm39) |
D2029G |
probably damaging |
Het |
| Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,383,950 (GRCm39) |
E17D |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,003 (GRCm39) |
V320A |
possibly damaging |
Het |
| Gna13 |
T |
C |
11: 109,286,765 (GRCm39) |
I196T |
probably damaging |
Het |
| Gorasp1 |
G |
T |
9: 119,757,061 (GRCm39) |
P374T |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,881,236 (GRCm39) |
D1461G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,573,317 (GRCm39) |
N2111D |
probably damaging |
Het |
| Hs3st3b1 |
G |
A |
11: 63,812,424 (GRCm39) |
S97L |
probably benign |
Het |
| Hsdl2 |
A |
G |
4: 59,612,696 (GRCm39) |
T296A |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,025,512 (GRCm39) |
D48G |
probably damaging |
Het |
| Kbtbd12 |
A |
T |
6: 88,591,062 (GRCm39) |
N383K |
probably benign |
Het |
| Kcnj12 |
T |
G |
11: 60,960,397 (GRCm39) |
F232V |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Ldhb |
T |
C |
6: 142,436,191 (GRCm39) |
D326G |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,505,432 (GRCm39) |
L607S |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,217,074 (GRCm39) |
S388P |
probably damaging |
Het |
| Mansc4 |
A |
G |
6: 146,976,645 (GRCm39) |
S324P |
probably benign |
Het |
| Meltf |
G |
A |
16: 31,707,717 (GRCm39) |
W368* |
probably null |
Het |
| Ndc1 |
G |
T |
4: 107,225,304 (GRCm39) |
G7W |
probably benign |
Het |
| Nmral1 |
T |
A |
16: 4,532,296 (GRCm39) |
K172* |
probably null |
Het |
| Nol9 |
G |
T |
4: 152,123,906 (GRCm39) |
R32L |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,403,912 (GRCm39) |
Y296C |
probably damaging |
Het |
| Or4k51 |
C |
T |
2: 111,585,329 (GRCm39) |
T245I |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,970,571 (GRCm39) |
D120G |
possibly damaging |
Het |
| Parp14 |
C |
T |
16: 35,680,811 (GRCm39) |
C274Y |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,282,679 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,521,048 (GRCm39) |
I865V |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,543,936 (GRCm39) |
S360C |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,184,467 (GRCm39) |
S389P |
unknown |
Het |
| Prr16 |
T |
G |
18: 51,436,227 (GRCm39) |
S235R |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,527 (GRCm39) |
N183S |
probably benign |
Het |
| Rcn1 |
A |
G |
2: 105,219,320 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
A |
4: 119,325,288 (GRCm39) |
A374S |
probably benign |
Het |
| Skint8 |
A |
T |
4: 111,785,935 (GRCm39) |
D127V |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,182,796 (GRCm39) |
K724E |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,667 (GRCm39) |
N537S |
unknown |
Het |
| Slc26a5 |
T |
C |
5: 22,025,348 (GRCm39) |
D457G |
possibly damaging |
Het |
| Slx4ip |
T |
C |
2: 136,842,138 (GRCm39) |
V21A |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,087,626 (GRCm39) |
Y291H |
probably damaging |
Het |
| Syn3 |
G |
A |
10: 86,302,916 (GRCm39) |
P80S |
probably damaging |
Het |
| Tasor2 |
G |
A |
13: 3,626,540 (GRCm39) |
Q455* |
probably null |
Het |
| Tiam1 |
A |
T |
16: 89,655,485 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,993,399 (GRCm39) |
D58G |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,800,266 (GRCm39) |
I621F |
probably damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,629 (GRCm39) |
S683N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,436 (GRCm39) |
L2322P |
probably damaging |
Het |
| Ugdh |
G |
T |
5: 65,574,402 (GRCm39) |
H409N |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,560 (GRCm39) |
M817K |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Zbtb34 |
A |
G |
2: 33,302,145 (GRCm39) |
V132A |
probably damaging |
Het |
| Zfp119b |
A |
G |
17: 56,246,992 (GRCm39) |
C33R |
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 |
|
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 |
|
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'- ACCTGGAAGATGAGGCTACC -3'
(R):5'- ACCTCCAGAGCTGTGTTCTCAG -3'
Sequencing Primer
(F):5'- ATCATCGGGTCGTTGGCCAG -3'
(R):5'- GTGTTCTCAGGGCGATCCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation