Incidental Mutation 'R1182:Draxin'
| ID |
101639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Draxin
|
| Ensembl Gene |
ENSMUSG00000029005 |
| Gene Name |
dorsal inhibitory axon guidance protein |
| Synonyms |
Neucrin, 2610109H07Rik |
| MMRRC Submission |
039254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148182894-148215155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148192394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 306
(E306G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030862]
|
| AlphaFold |
Q6PAL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030862
AA Change: E306G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030862
Gene: ENSMUSG00000029005
AA Change: E306G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Draxin
|
37 |
343 |
3.1e-138 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice show defasciculation of spinal cord commissural axons and absence of all forebrain commissures. Male homozygous mutant mice exhibited a decreased mean serum insulin level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
A |
8: 84,656,451 (GRCm39) |
D256E |
probably damaging |
Het |
| Adnp |
G |
A |
2: 168,026,716 (GRCm39) |
A193V |
possibly damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,059,699 (GRCm39) |
L413S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,928 (GRCm39) |
N252S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,449,811 (GRCm39) |
N904K |
probably damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,132,680 (GRCm39) |
F9L |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,743,416 (GRCm39) |
C371S |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,933,409 (GRCm39) |
I506F |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,285 (GRCm39) |
T301A |
probably damaging |
Het |
| Or8k20 |
T |
C |
2: 86,106,612 (GRCm39) |
N73S |
probably damaging |
Het |
| Plekhg6 |
C |
G |
6: 125,349,455 (GRCm39) |
E381Q |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,413 (GRCm39) |
I1322V |
possibly damaging |
Het |
| Psmc3 |
T |
C |
2: 90,886,380 (GRCm39) |
I179T |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,810,185 (GRCm39) |
D295G |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,171 (GRCm39) |
V88A |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r232 |
C |
A |
17: 21,133,705 (GRCm39) |
L298F |
possibly damaging |
Het |
| Zfp629 |
C |
A |
7: 127,209,274 (GRCm39) |
C845F |
probably damaging |
Het |
|
| Other mutations in Draxin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0319:Draxin
|
UTSW |
4 |
148,200,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0554:Draxin
|
UTSW |
4 |
148,192,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Draxin
|
UTSW |
4 |
148,197,213 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5011:Draxin
|
UTSW |
4 |
148,192,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Draxin
|
UTSW |
4 |
148,192,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Draxin
|
UTSW |
4 |
148,200,148 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7337:Draxin
|
UTSW |
4 |
148,197,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8171:Draxin
|
UTSW |
4 |
148,200,123 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0017:Draxin
|
UTSW |
4 |
148,200,361 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACACGGAGCTGACAGATTG -3'
(R):5'- GCCTGCCACACATATGATGGATCTC -3'
Sequencing Primer
(F):5'- AGCGAAGCTGTTCCTACTG -3'
(R):5'- ATGGATCTCCTGTCCGGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation