Incidental Mutation 'R6122:Neu1'
| ID |
485801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neu1
|
| Ensembl Gene |
ENSMUSG00000007038 |
| Gene Name |
neuraminidase 1 |
| Synonyms |
sialidase 1, Bat7, Map-2, Aglp, lysosomal sialidase, G9, Apl, Neu-1, Bat-7 |
| MMRRC Submission |
044269-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35150229-35154929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35153730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 385
(V385I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
| AlphaFold |
O35657 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007249
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
311 |
674 |
5.4e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007253
AA Change: V385I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: V385I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:BNR_3
|
74 |
249 |
1e-16 |
PFAM |
|
Pfam:BNR_2
|
82 |
377 |
1.8e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169230
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
157 |
524 |
3.9e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174715
|
| Meta Mutation Damage Score |
0.0864 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
| Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
| Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
| Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
| Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
| Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
| Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
| Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
| Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
| Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
| Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
| Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
| Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
| Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
| Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
| Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
| Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
| Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
| Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
| Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
probably damaging |
Het |
|
| Other mutations in Neu1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01607:Neu1
|
APN |
17 |
35,153,692 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02197:Neu1
|
APN |
17 |
35,153,641 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02442:Neu1
|
APN |
17 |
35,153,445 (GRCm39) |
missense |
probably benign |
|
|
IGL02545:Neu1
|
APN |
17 |
35,150,477 (GRCm39) |
missense |
probably benign |
0.41 |
|
FR4340:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
R0331:Neu1
|
UTSW |
17 |
35,153,146 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0508:Neu1
|
UTSW |
17 |
35,151,760 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0646:Neu1
|
UTSW |
17 |
35,153,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Neu1
|
UTSW |
17 |
35,153,301 (GRCm39) |
splice site |
probably null |
|
|
R1300:Neu1
|
UTSW |
17 |
35,153,314 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1545:Neu1
|
UTSW |
17 |
35,153,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1552:Neu1
|
UTSW |
17 |
35,151,089 (GRCm39) |
unclassified |
probably benign |
|
|
R2107:Neu1
|
UTSW |
17 |
35,153,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2108:Neu1
|
UTSW |
17 |
35,153,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2279:Neu1
|
UTSW |
17 |
35,153,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Neu1
|
UTSW |
17 |
35,151,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2895:Neu1
|
UTSW |
17 |
35,151,758 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4747:Neu1
|
UTSW |
17 |
35,153,359 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6010:Neu1
|
UTSW |
17 |
35,151,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8490:Neu1
|
UTSW |
17 |
35,150,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Neu1
|
UTSW |
17 |
35,150,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9591:Neu1
|
UTSW |
17 |
35,150,474 (GRCm39) |
missense |
probably benign |
0.28 |
|
RF034:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
RF045:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACAAGTCCTGGACAGAGC -3'
(R):5'- CCTGTTGATGAGAAGTTGCAAAAG -3'
Sequencing Primer
(F):5'- TGGACAGAGCAGAGACCCTC -3'
(R):5'- GTTGCAAAAGGTCAGAGTTCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation