Incidental Mutation 'R5123:Net1'
| ID |
393412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Net1
|
| Ensembl Gene |
ENSMUSG00000021215 |
| Gene Name |
neuroepithelial cell transforming gene 1 |
| Synonyms |
Net1 homolog, 9530071N24Rik, 0610025H04Rik, mNET1 |
| MMRRC Submission |
042711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R5123 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
3932018-3968220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3936623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 314
(R314H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091853]
[ENSMUST00000099946]
[ENSMUST00000222504]
|
| AlphaFold |
Q9Z206 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091853
AA Change: R314H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215
AA Change: R314H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
RhoGEF
|
178 |
355 |
2.84e-54 |
SMART |
|
PH
|
387 |
503 |
5.79e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099946
AA Change: R260H
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215
AA Change: R260H
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
124 |
301 |
2.84e-54 |
SMART |
|
PH
|
333 |
449 |
5.79e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222442
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222504
|
| Meta Mutation Damage Score |
0.9279 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed mammary gland development during puberty associated with slower ductal extension, reduced ductal branching and epithelial cell proliferation, disorganized myoepithelial and ductal epithelial cells, and increased collagen deposition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
| Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
| Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
| Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,397 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
| Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Igsf5 |
A |
G |
16: 96,174,279 (GRCm39) |
D103G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
| Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
| Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
| Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
| Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,224,262 (GRCm39) |
S290* |
probably null |
Het |
| Spata6 |
T |
G |
4: 111,625,992 (GRCm39) |
H120Q |
possibly damaging |
Het |
| Stk11 |
G |
A |
10: 79,963,775 (GRCm39) |
V194I |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,287,603 (GRCm39) |
V199A |
probably benign |
Het |
| Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
| Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
probably damaging |
Het |
|
| Other mutations in Net1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Net1
|
APN |
13 |
3,943,391 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02271:Net1
|
APN |
13 |
3,937,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02698:Net1
|
APN |
13 |
3,937,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
Rete
|
UTSW |
13 |
3,934,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0580:Net1
|
UTSW |
13 |
3,936,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1028:Net1
|
UTSW |
13 |
3,934,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1070:Net1
|
UTSW |
13 |
3,962,930 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1775:Net1
|
UTSW |
13 |
3,937,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Net1
|
UTSW |
13 |
3,962,941 (GRCm39) |
unclassified |
probably benign |
|
|
R3968:Net1
|
UTSW |
13 |
3,957,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4056:Net1
|
UTSW |
13 |
3,934,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Net1
|
UTSW |
13 |
3,934,252 (GRCm39) |
nonsense |
probably null |
|
|
R4937:Net1
|
UTSW |
13 |
3,934,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Net1
|
UTSW |
13 |
3,936,740 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5389:Net1
|
UTSW |
13 |
3,936,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Net1
|
UTSW |
13 |
3,943,379 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5509:Net1
|
UTSW |
13 |
3,934,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6548:Net1
|
UTSW |
13 |
3,936,074 (GRCm39) |
splice site |
probably null |
|
|
R7056:Net1
|
UTSW |
13 |
3,934,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7138:Net1
|
UTSW |
13 |
3,938,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Net1
|
UTSW |
13 |
3,962,672 (GRCm39) |
intron |
probably benign |
|
|
R8317:Net1
|
UTSW |
13 |
3,957,856 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8375:Net1
|
UTSW |
13 |
3,943,458 (GRCm39) |
unclassified |
probably benign |
|
|
R8854:Net1
|
UTSW |
13 |
3,934,214 (GRCm39) |
missense |
probably benign |
|
|
R9070:Net1
|
UTSW |
13 |
3,936,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Net1
|
UTSW |
13 |
3,938,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9623:Net1
|
UTSW |
13 |
3,937,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF006:Net1
|
UTSW |
13 |
3,937,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGAGACTTGAAAGTACCAC -3'
(R):5'- CATGGCTTACTCATGCACCCAG -3'
Sequencing Primer
(F):5'- CGAGACTTGAAAGTACCACTGTATGC -3'
(R):5'- ATGCACCCAGTCATGTAGGCTATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation