Incidental Mutation 'R4554:Ngrn'
| ID |
341808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngrn
|
| Ensembl Gene |
ENSMUSG00000047084 |
| Gene Name |
neugrin, neurite outgrowth associated |
| Synonyms |
neurite outgrowth associated protein |
| MMRRC Submission |
041596-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4554 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79910963-79915122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79914449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 200
(T200I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032749]
[ENSMUST00000058266]
[ENSMUST00000117989]
[ENSMUST00000150585]
[ENSMUST00000205270]
|
| AlphaFold |
Q99KS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032749
|
| SMART Domains |
Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
37 |
611 |
2.4e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058266
|
| SMART Domains |
Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
131 |
427 |
3.4e-90 |
PFAM |
|
coiled coil region
|
504 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117989
AA Change: T200I
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113444
Gene: ENSMUSG00000047084
AA Change: T200I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
46 |
70 |
N/A |
INTRINSIC |
|
Pfam:Neugrin
|
73 |
293 |
1.2e-99 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150585
|
| SMART Domains |
Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
36 |
140 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205270
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,949,992 (GRCm39) |
A1772V |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,294 (GRCm39) |
G4526D |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,601,599 (GRCm39) |
R2150H |
probably benign |
Het |
| Amh |
A |
T |
10: 80,642,885 (GRCm39) |
E356D |
probably benign |
Het |
| Cap2 |
T |
A |
13: 46,789,250 (GRCm39) |
F152I |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,485,631 (GRCm39) |
M206K |
unknown |
Het |
| Lsamp |
G |
C |
16: 41,964,438 (GRCm39) |
D271H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,406 (GRCm39) |
V133G |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,123 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,469,216 (GRCm39) |
T117A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,539,529 (GRCm39) |
K357E |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,720,100 (GRCm39) |
R325H |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,946 (GRCm39) |
P366L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,762 (GRCm39) |
N359S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,433 (GRCm39) |
T499A |
probably benign |
Het |
| Tex2 |
G |
T |
11: 106,435,212 (GRCm39) |
P738H |
unknown |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,699,847 (GRCm39) |
Q452R |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,088 (GRCm39) |
N87D |
probably benign |
Het |
|
| Other mutations in Ngrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0088:Ngrn
|
UTSW |
7 |
79,914,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Ngrn
|
UTSW |
7 |
79,911,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Ngrn
|
UTSW |
7 |
79,914,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4273:Ngrn
|
UTSW |
7 |
79,914,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Ngrn
|
UTSW |
7 |
79,911,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6107:Ngrn
|
UTSW |
7 |
79,911,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Ngrn
|
UTSW |
7 |
79,914,185 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGTTTGTACCCACTTTAGAGCAG -3'
(R):5'- CAGCACAGCACTTGGTAACG -3'
Sequencing Primer
(F):5'- TGTACCCACTTTAGAGCAGAAACTG -3'
(R):5'- TGGTAACGTATCACTGCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation