Incidental Mutation 'IGL01956:Nudcd1'
| ID |
181107 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nudcd1
|
| Ensembl Gene |
ENSMUSG00000038736 |
| Gene Name |
NudC domain containing 1 |
| Synonyms |
4921532K09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
IGL01956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
44238623-44291703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44263612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 277
(Y277H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038719]
[ENSMUST00000226606]
[ENSMUST00000227843]
|
| AlphaFold |
Q6PIP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038719
AA Change: Y276H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042746
Gene: ENSMUSG00000038736
AA Change: Y276H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CS
|
275 |
349 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227645
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227843
AA Change: Y277H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,825,770 (GRCm39) |
G1022D |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,594,549 (GRCm39) |
H4155R |
possibly damaging |
Het |
| Akna |
A |
T |
4: 63,297,527 (GRCm39) |
D842E |
probably benign |
Het |
| Cacng5 |
T |
C |
11: 107,773,735 (GRCm39) |
E88G |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,425 (GRCm39) |
P148L |
probably damaging |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,294,518 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,150,158 (GRCm39) |
|
probably null |
Het |
| Nvl |
A |
G |
1: 180,962,509 (GRCm39) |
S154P |
probably benign |
Het |
| Or6c206 |
T |
A |
10: 129,096,911 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pah |
G |
A |
10: 87,374,061 (GRCm39) |
E76K |
probably benign |
Het |
| Peli1 |
T |
A |
11: 21,098,501 (GRCm39) |
I412N |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,322,407 (GRCm39) |
N620S |
probably damaging |
Het |
| Slc18a2 |
T |
C |
19: 59,275,608 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
C |
5: 135,066,323 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,144,748 (GRCm39) |
D1566N |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,755 (GRCm39) |
E433D |
probably benign |
Het |
| Tas2r102 |
G |
A |
6: 132,739,416 (GRCm39) |
W108* |
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,981,036 (GRCm39) |
V135A |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,947,160 (GRCm39) |
S598P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp729a |
A |
T |
13: 67,769,805 (GRCm39) |
H141Q |
probably damaging |
Het |
|
| Other mutations in Nudcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Nudcd1
|
APN |
15 |
44,284,222 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01996:Nudcd1
|
APN |
15 |
44,269,357 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0333:Nudcd1
|
UTSW |
15 |
44,264,683 (GRCm39) |
missense |
probably benign |
|
|
R0960:Nudcd1
|
UTSW |
15 |
44,291,047 (GRCm39) |
unclassified |
probably benign |
|
|
R3409:Nudcd1
|
UTSW |
15 |
44,284,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3410:Nudcd1
|
UTSW |
15 |
44,284,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4771:Nudcd1
|
UTSW |
15 |
44,268,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4970:Nudcd1
|
UTSW |
15 |
44,240,039 (GRCm39) |
nonsense |
probably null |
|
|
R5112:Nudcd1
|
UTSW |
15 |
44,240,039 (GRCm39) |
nonsense |
probably null |
|
|
R5789:Nudcd1
|
UTSW |
15 |
44,251,879 (GRCm39) |
nonsense |
probably null |
|
|
R6353:Nudcd1
|
UTSW |
15 |
44,284,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Nudcd1
|
UTSW |
15 |
44,269,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7483:Nudcd1
|
UTSW |
15 |
44,269,253 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7742:Nudcd1
|
UTSW |
15 |
44,268,754 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8949:Nudcd1
|
UTSW |
15 |
44,251,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9066:Nudcd1
|
UTSW |
15 |
44,243,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Nudcd1
|
UTSW |
15 |
44,263,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9438:Nudcd1
|
UTSW |
15 |
44,269,321 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Nudcd1
|
UTSW |
15 |
44,268,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation