Incidental Mutation 'R6317:Naca'
| ID |
510046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naca
|
| Ensembl Gene |
ENSMUSG00000061315 |
| Gene Name |
nascent polypeptide-associated complex alpha polypeptide |
| Synonyms |
LOC380777, skNAC |
| MMRRC Submission |
044417-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R6317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127871444-127884506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127879993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1675
(I1675T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073868]
[ENSMUST00000092048]
|
| AlphaFold |
P70670 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073868
|
| SMART Domains |
Protein: ENSMUSP00000073532
Gene: ENSMUSG00000061315
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
Pfam:NAC
|
73 |
130 |
3.9e-27 |
PFAM |
|
low complexity region
|
157 |
178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092048
AA Change: I1675T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: I1675T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
704 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
937 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
998 |
N/A |
INTRINSIC |
|
low complexity region
|
1174 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1349 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1504 |
N/A |
INTRINSIC |
|
low complexity region
|
1572 |
1593 |
N/A |
INTRINSIC |
|
low complexity region
|
1636 |
1670 |
N/A |
INTRINSIC |
|
low complexity region
|
1714 |
1727 |
N/A |
INTRINSIC |
|
low complexity region
|
1806 |
1827 |
N/A |
INTRINSIC |
|
low complexity region
|
1889 |
1926 |
N/A |
INTRINSIC |
|
low complexity region
|
1943 |
1957 |
N/A |
INTRINSIC |
|
low complexity region
|
1972 |
1986 |
N/A |
INTRINSIC |
|
low complexity region
|
2016 |
2029 |
N/A |
INTRINSIC |
|
Pfam:NAC
|
2045 |
2101 |
1.7e-25 |
PFAM |
|
low complexity region
|
2129 |
2150 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(156) : Targeted, other(1) Gene trapped(155) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,601,264 (GRCm39) |
N206S |
probably damaging |
Het |
| Abcf2 |
A |
T |
5: 24,774,156 (GRCm39) |
Y315* |
probably null |
Het |
| Adck1 |
T |
G |
12: 88,368,921 (GRCm39) |
V133G |
probably damaging |
Het |
| Aoc2 |
T |
C |
11: 101,216,292 (GRCm39) |
F125S |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,713,410 (GRCm39) |
D319G |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 55,001,585 (GRCm39) |
Q145R |
possibly damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,778 (GRCm39) |
E276G |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,861,104 (GRCm39) |
V36L |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,084,046 (GRCm39) |
F388S |
unknown |
Het |
| Col6a5 |
T |
A |
9: 105,766,266 (GRCm39) |
N1885Y |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,496,388 (GRCm39) |
C522S |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 16,760,658 (GRCm39) |
T159K |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,802 (GRCm39) |
L1977H |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,940,769 (GRCm39) |
K197* |
probably null |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,283 (GRCm39) |
S26P |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,130,949 (GRCm39) |
D321E |
probably damaging |
Het |
| Gria2 |
A |
C |
3: 80,648,311 (GRCm39) |
Y142D |
possibly damaging |
Het |
| Gspt1 |
T |
C |
16: 11,041,072 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,265 (GRCm39) |
V17D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,178,425 (GRCm39) |
L675* |
probably null |
Het |
| Kif13a |
C |
T |
13: 46,980,233 (GRCm39) |
R173Q |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,336,086 (GRCm39) |
I91T |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,348,979 (GRCm39) |
|
probably null |
Het |
| Mcemp1 |
G |
A |
8: 3,717,284 (GRCm39) |
W101* |
probably null |
Het |
| Nol9 |
T |
C |
4: 152,125,514 (GRCm39) |
F155S |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,960,721 (GRCm39) |
D3406Y |
probably damaging |
Het |
| Obsl1 |
A |
G |
1: 75,466,273 (GRCm39) |
V1485A |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,760,119 (GRCm39) |
|
probably null |
Het |
| Or8a1 |
T |
C |
9: 37,641,725 (GRCm39) |
K185E |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,950,639 (GRCm39) |
P337H |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,898,242 (GRCm39) |
L140P |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Pex11g |
G |
T |
8: 3,514,092 (GRCm39) |
D23E |
probably damaging |
Het |
| Phactr2 |
A |
T |
10: 13,137,626 (GRCm39) |
M172K |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,512,974 (GRCm39) |
W91* |
probably null |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Podn |
A |
G |
4: 107,884,357 (GRCm39) |
F44S |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,527,205 (GRCm39) |
D87G |
possibly damaging |
Het |
| Prmt2 |
T |
A |
10: 76,058,351 (GRCm39) |
I153F |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,273,229 (GRCm39) |
V258A |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,655,521 (GRCm39) |
A482E |
probably damaging |
Het |
| Qrich1 |
A |
T |
9: 108,411,491 (GRCm39) |
N339Y |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,432,659 (GRCm39) |
V750D |
possibly damaging |
Het |
| Reg3d |
G |
A |
6: 78,354,428 (GRCm39) |
P58S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,112,212 (GRCm39) |
L1213P |
unknown |
Het |
| Sema6b |
A |
G |
17: 56,431,047 (GRCm39) |
L872S |
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,436 (GRCm39) |
I281T |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,838,821 (GRCm39) |
V685A |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,284,980 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc7a6 |
A |
T |
8: 106,919,099 (GRCm39) |
I228F |
probably damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,821,512 (GRCm39) |
T300A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,068,653 (GRCm39) |
N2151S |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,569,945 (GRCm39) |
I96L |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,966,070 (GRCm39) |
D528G |
probably benign |
Het |
| Ubl7 |
T |
C |
9: 57,818,456 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,839,716 (GRCm39) |
I983L |
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,742 (GRCm39) |
L209P |
probably damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn1r3 |
T |
C |
4: 3,184,993 (GRCm39) |
S105G |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,783,711 (GRCm39) |
H945Q |
probably damaging |
Het |
|
| Other mutations in Naca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Naca
|
APN |
10 |
127,877,551 (GRCm39) |
intron |
probably benign |
|
|
IGL00990:Naca
|
APN |
10 |
127,879,669 (GRCm39) |
intron |
probably benign |
|
|
IGL01093:Naca
|
APN |
10 |
127,883,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01356:Naca
|
APN |
10 |
127,877,584 (GRCm39) |
intron |
probably benign |
|
|
IGL01548:Naca
|
APN |
10 |
127,876,773 (GRCm39) |
intron |
probably benign |
|
|
IGL02089:Naca
|
APN |
10 |
127,872,358 (GRCm39) |
splice site |
probably benign |
|
|
IGL02148:Naca
|
APN |
10 |
127,879,753 (GRCm39) |
intron |
probably benign |
|
|
IGL02494:Naca
|
APN |
10 |
127,877,179 (GRCm39) |
intron |
probably benign |
|
|
IGL02672:Naca
|
APN |
10 |
127,876,152 (GRCm39) |
intron |
probably benign |
|
|
IGL02822:Naca
|
APN |
10 |
127,875,214 (GRCm39) |
intron |
probably benign |
|
|
IGL02904:Naca
|
APN |
10 |
127,879,159 (GRCm39) |
intron |
probably benign |
|
|
IGL02931:Naca
|
APN |
10 |
127,883,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Naca
|
APN |
10 |
127,877,437 (GRCm39) |
intron |
probably benign |
|
|
IGL03104:Naca
|
APN |
10 |
127,876,233 (GRCm39) |
intron |
probably benign |
|
|
Sinewy
|
UTSW |
10 |
127,884,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4216:Naca
|
UTSW |
10 |
127,880,109 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
P0042:Naca
|
UTSW |
10 |
127,877,422 (GRCm39) |
intron |
probably benign |
|
|
R0110:Naca
|
UTSW |
10 |
127,880,659 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0220:Naca
|
UTSW |
10 |
127,879,255 (GRCm39) |
intron |
probably benign |
|
|
R0469:Naca
|
UTSW |
10 |
127,880,659 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0528:Naca
|
UTSW |
10 |
127,879,162 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0594:Naca
|
UTSW |
10 |
127,876,224 (GRCm39) |
intron |
probably benign |
|
|
R0626:Naca
|
UTSW |
10 |
127,877,031 (GRCm39) |
intron |
probably benign |
|
|
R0885:Naca
|
UTSW |
10 |
127,876,048 (GRCm39) |
nonsense |
probably null |
|
|
R1129:Naca
|
UTSW |
10 |
127,876,071 (GRCm39) |
intron |
probably benign |
|
|
R1437:Naca
|
UTSW |
10 |
127,878,048 (GRCm39) |
intron |
probably benign |
|
|
R1464:Naca
|
UTSW |
10 |
127,884,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1464:Naca
|
UTSW |
10 |
127,884,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1509:Naca
|
UTSW |
10 |
127,879,266 (GRCm39) |
intron |
probably benign |
|
|
R1561:Naca
|
UTSW |
10 |
127,876,267 (GRCm39) |
intron |
probably benign |
|
|
R1574:Naca
|
UTSW |
10 |
127,876,267 (GRCm39) |
intron |
probably benign |
|
|
R1678:Naca
|
UTSW |
10 |
127,879,395 (GRCm39) |
intron |
probably benign |
|
|
R1901:Naca
|
UTSW |
10 |
127,879,590 (GRCm39) |
intron |
probably benign |
|
|
R2884:Naca
|
UTSW |
10 |
127,877,547 (GRCm39) |
intron |
probably benign |
|
|
R2886:Naca
|
UTSW |
10 |
127,877,547 (GRCm39) |
intron |
probably benign |
|
|
R3176:Naca
|
UTSW |
10 |
127,876,530 (GRCm39) |
intron |
probably benign |
|
|
R3276:Naca
|
UTSW |
10 |
127,876,530 (GRCm39) |
intron |
probably benign |
|
|
R4227:Naca
|
UTSW |
10 |
127,877,530 (GRCm39) |
intron |
probably benign |
|
|
R4388:Naca
|
UTSW |
10 |
127,880,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4402:Naca
|
UTSW |
10 |
127,879,341 (GRCm39) |
intron |
probably benign |
|
|
R4798:Naca
|
UTSW |
10 |
127,883,672 (GRCm39) |
missense |
probably null |
0.99 |
|
R4955:Naca
|
UTSW |
10 |
127,878,084 (GRCm39) |
intron |
probably benign |
|
|
R4996:Naca
|
UTSW |
10 |
127,878,298 (GRCm39) |
intron |
probably benign |
|
|
R5027:Naca
|
UTSW |
10 |
127,883,990 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5580:Naca
|
UTSW |
10 |
127,876,462 (GRCm39) |
intron |
probably benign |
|
|
R5752:Naca
|
UTSW |
10 |
127,877,797 (GRCm39) |
intron |
probably benign |
|
|
R5788:Naca
|
UTSW |
10 |
127,876,011 (GRCm39) |
intron |
probably benign |
|
|
R6156:Naca
|
UTSW |
10 |
127,875,160 (GRCm39) |
intron |
probably benign |
|
|
R6227:Naca
|
UTSW |
10 |
127,879,785 (GRCm39) |
intron |
probably benign |
|
|
R6665:Naca
|
UTSW |
10 |
127,884,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Naca
|
UTSW |
10 |
127,875,990 (GRCm39) |
missense |
unknown |
|
|
R7247:Naca
|
UTSW |
10 |
127,878,467 (GRCm39) |
missense |
unknown |
|
|
R7632:Naca
|
UTSW |
10 |
127,876,375 (GRCm39) |
missense |
unknown |
|
|
R7826:Naca
|
UTSW |
10 |
127,879,479 (GRCm39) |
intron |
probably benign |
|
|
R7921:Naca
|
UTSW |
10 |
127,878,918 (GRCm39) |
missense |
unknown |
|
|
R8059:Naca
|
UTSW |
10 |
127,876,372 (GRCm39) |
missense |
unknown |
|
|
R8084:Naca
|
UTSW |
10 |
127,877,400 (GRCm39) |
missense |
unknown |
|
|
R8385:Naca
|
UTSW |
10 |
127,878,307 (GRCm39) |
missense |
unknown |
|
|
R8515:Naca
|
UTSW |
10 |
127,880,112 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8708:Naca
|
UTSW |
10 |
127,883,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Naca
|
UTSW |
10 |
127,878,226 (GRCm39) |
missense |
unknown |
|
|
X0053:Naca
|
UTSW |
10 |
127,884,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTCCCAGTCTGCAAAAG -3'
(R):5'- TTTCCGGAAGAAGTGGCAGTG -3'
Sequencing Primer
(F):5'- GGCACCATCGACTACAATCC -3'
(R):5'- TGAGAGAACAGAGGCCTCTTTAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation