Incidental Mutation 'R1490:Nedd1'
| ID |
163661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nedd1
|
| Ensembl Gene |
ENSMUSG00000019988 |
| Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
| Synonyms |
|
| MMRRC Submission |
039542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
92684746-92722420 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92700798 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 214
(F214S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
| AlphaFold |
P33215 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020163
AA Change: F214S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: F214S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
21 |
63 |
5.97e-1 |
SMART |
|
WD40
|
67 |
105 |
9.75e-3 |
SMART |
|
WD40
|
108 |
147 |
6.19e-5 |
SMART |
|
WD40
|
149 |
191 |
6.42e-1 |
SMART |
|
WD40
|
194 |
235 |
9.1e-3 |
SMART |
|
WD40
|
238 |
276 |
2.24e-2 |
SMART |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215970
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025F22Rik |
A |
G |
19: 11,141,538 (GRCm38) |
I69T |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,520,370 (GRCm38) |
T52I |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 97,978,444 (GRCm38) |
R633W |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,185,745 (GRCm38) |
N507S |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 108,113,994 (GRCm38) |
S1520P |
probably benign |
Het |
| Cacul1 |
G |
T |
19: 60,580,399 (GRCm38) |
A107E |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,811,366 (GRCm38) |
D216G |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 104,622,070 (GRCm38) |
W109R |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,768,911 (GRCm38) |
V100I |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 17,163,146 (GRCm38) |
D679G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,373,913 (GRCm38) |
D46G |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,120,604 (GRCm38) |
Y95H |
probably benign |
Het |
| Dmrta2 |
T |
C |
4: 109,979,875 (GRCm38) |
S5P |
unknown |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm38) |
Y426C |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,554,159 (GRCm38) |
S87G |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,470,889 (GRCm38) |
R232G |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,624,344 (GRCm38) |
V812D |
probably damaging |
Het |
| Gm10153 |
C |
T |
7: 142,190,142 (GRCm38) |
C83Y |
unknown |
Het |
| Gpd2 |
T |
C |
2: 57,355,475 (GRCm38) |
V394A |
probably damaging |
Het |
| Hpcal1 |
A |
T |
12: 17,786,224 (GRCm38) |
E18D |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,797,756 (GRCm38) |
D156G |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,862,769 (GRCm38) |
K510E |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,612,225 (GRCm38) |
R1035Q |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 54,962,718 (GRCm38) |
K235* |
probably null |
Het |
| Olfr166 |
T |
C |
16: 19,486,922 (GRCm38) |
M28T |
probably benign |
Het |
| Olfr392 |
A |
G |
11: 73,814,371 (GRCm38) |
V237A |
possibly damaging |
Het |
| Olfr672 |
A |
G |
7: 104,996,493 (GRCm38) |
I137T |
possibly damaging |
Het |
| Olfr98 |
A |
G |
17: 37,262,842 (GRCm38) |
M274T |
probably benign |
Het |
| Pfkfb2 |
A |
C |
1: 130,697,889 (GRCm38) |
|
probably null |
Het |
| Pfkfb4 |
T |
C |
9: 109,027,620 (GRCm38) |
L398P |
probably damaging |
Het |
| Pfn3 |
T |
G |
13: 55,414,919 (GRCm38) |
D83A |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,386,268 (GRCm38) |
W54L |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,198,275 (GRCm38) |
D161G |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,153,254 (GRCm38) |
S1757P |
probably benign |
Het |
| Samd7 |
A |
G |
3: 30,758,353 (GRCm38) |
E314G |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 23,904,753 (GRCm38) |
I217T |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,662,893 (GRCm38) |
|
probably null |
Het |
| Slc7a7 |
C |
T |
14: 54,408,646 (GRCm38) |
R120H |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,413,675 (GRCm38) |
H905Q |
probably benign |
Het |
| Thada |
G |
A |
17: 84,446,601 (GRCm38) |
T314I |
possibly damaging |
Het |
| Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,189,066 (GRCm38) |
|
probably benign |
Het |
| Tlr11 |
A |
C |
14: 50,363,176 (GRCm38) |
H873P |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,839,374 (GRCm38) |
T135S |
possibly damaging |
Het |
| Tmem116 |
T |
C |
5: 121,495,111 (GRCm38) |
S183P |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,639,550 (GRCm38) |
I572K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,359,841 (GRCm38) |
T523I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,988,965 (GRCm38) |
Q364* |
probably null |
Het |
| Vmn1r61 |
T |
C |
7: 5,611,243 (GRCm38) |
Q24R |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 33,152,538 (GRCm38) |
|
probably null |
Het |
| Zfp458 |
G |
A |
13: 67,257,509 (GRCm38) |
P286S |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,606,829 (GRCm38) |
C373S |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 127,343,631 (GRCm38) |
I442F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,537,283 (GRCm38) |
R284G |
probably benign |
Het |
|
| Other mutations in Nedd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Nedd1
|
APN |
10 |
92,694,974 (GRCm38) |
splice site |
probably benign |
|
|
IGL00988:Nedd1
|
APN |
10 |
92,689,686 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01563:Nedd1
|
APN |
10 |
92,698,169 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01588:Nedd1
|
APN |
10 |
92,686,262 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01988:Nedd1
|
APN |
10 |
92,714,159 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL02706:Nedd1
|
APN |
10 |
92,686,285 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02938:Nedd1
|
APN |
10 |
92,689,657 (GRCm38) |
nonsense |
probably null |
|
|
IGL03011:Nedd1
|
APN |
10 |
92,689,641 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Brainless
|
UTSW |
10 |
92,690,773 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0125:Nedd1
|
UTSW |
10 |
92,691,929 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0173:Nedd1
|
UTSW |
10 |
92,698,883 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0244:Nedd1
|
UTSW |
10 |
92,716,265 (GRCm38) |
intron |
probably benign |
|
|
R0645:Nedd1
|
UTSW |
10 |
92,691,831 (GRCm38) |
splice site |
probably null |
|
|
R0791:Nedd1
|
UTSW |
10 |
92,719,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1522:Nedd1
|
UTSW |
10 |
92,719,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Nedd1
|
UTSW |
10 |
92,698,739 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1984:Nedd1
|
UTSW |
10 |
92,714,160 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2474:Nedd1
|
UTSW |
10 |
92,719,603 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2877:Nedd1
|
UTSW |
10 |
92,714,126 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2883:Nedd1
|
UTSW |
10 |
92,694,998 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4694:Nedd1
|
UTSW |
10 |
92,719,582 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4798:Nedd1
|
UTSW |
10 |
92,698,910 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4830:Nedd1
|
UTSW |
10 |
92,686,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4963:Nedd1
|
UTSW |
10 |
92,695,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Nedd1
|
UTSW |
10 |
92,711,212 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5329:Nedd1
|
UTSW |
10 |
92,686,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5404:Nedd1
|
UTSW |
10 |
92,716,192 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5534:Nedd1
|
UTSW |
10 |
92,695,032 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6045:Nedd1
|
UTSW |
10 |
92,695,100 (GRCm38) |
nonsense |
probably null |
|
|
R6154:Nedd1
|
UTSW |
10 |
92,698,242 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6512:Nedd1
|
UTSW |
10 |
92,691,875 (GRCm38) |
missense |
probably benign |
|
|
R6692:Nedd1
|
UTSW |
10 |
92,698,337 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6693:Nedd1
|
UTSW |
10 |
92,698,337 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6943:Nedd1
|
UTSW |
10 |
92,711,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7011:Nedd1
|
UTSW |
10 |
92,690,773 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7406:Nedd1
|
UTSW |
10 |
92,711,323 (GRCm38) |
splice site |
probably null |
|
|
R7455:Nedd1
|
UTSW |
10 |
92,700,925 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7587:Nedd1
|
UTSW |
10 |
92,698,730 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7745:Nedd1
|
UTSW |
10 |
92,714,172 (GRCm38) |
missense |
probably benign |
|
|
R8104:Nedd1
|
UTSW |
10 |
92,691,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8209:Nedd1
|
UTSW |
10 |
92,691,935 (GRCm38) |
missense |
probably benign |
|
|
R8226:Nedd1
|
UTSW |
10 |
92,691,935 (GRCm38) |
missense |
probably benign |
|
|
R8925:Nedd1
|
UTSW |
10 |
92,722,396 (GRCm38) |
start gained |
probably benign |
|
|
R8927:Nedd1
|
UTSW |
10 |
92,722,396 (GRCm38) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGATGTATGATGAAGCCTGCCCC -3'
(R):5'- ATACCTAGCCCGGCATAGACAGAG -3'
Sequencing Primer
(F):5'- cacataaaaccctaagcagcac -3'
(R):5'- CCGGCATAGACAGAGTTGGTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation