Incidental Mutation 'R0063:Emid1'
| ID |
16249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emid1
|
| Ensembl Gene |
ENSMUSG00000034164 |
| Gene Name |
EMI domain containing 1 |
| Synonyms |
CO-5, Emu1 |
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5056265-5102257 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 5139704 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062821]
[ENSMUST00000156492]
[ENSMUST00000163299]
|
| AlphaFold |
Q91VF5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062821
|
| SMART Domains |
Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
101 |
8.7e-18 |
PFAM |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
267 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
282 |
342 |
5e-10 |
PFAM |
|
Pfam:Collagen
|
312 |
377 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156492
|
| SMART Domains |
Protein: ENSMUSP00000124431
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
33 |
103 |
3.5e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163299
|
| SMART Domains |
Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
33 |
101 |
7.3e-24 |
PFAM |
|
low complexity region
|
198 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
265 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
280 |
340 |
5.1e-10 |
PFAM |
|
Pfam:Collagen
|
310 |
375 |
4.3e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
| Validation Efficiency |
99% (86/87) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
| Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
Het |
|
| Other mutations in Emid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Emid1
|
APN |
11 |
5,093,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Emid1
|
UTSW |
11 |
5,093,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Emid1
|
UTSW |
11 |
5,093,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Emid1
|
UTSW |
11 |
5,085,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2266:Emid1
|
UTSW |
11 |
5,094,331 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4913:Emid1
|
UTSW |
11 |
5,082,012 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4942:Emid1
|
UTSW |
11 |
5,079,430 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4993:Emid1
|
UTSW |
11 |
5,081,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6010:Emid1
|
UTSW |
11 |
5,085,389 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8261:Emid1
|
UTSW |
11 |
5,084,353 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8786:Emid1
|
UTSW |
11 |
5,081,517 (GRCm39) |
missense |
probably benign |
|
|
RF043:Emid1
|
UTSW |
11 |
5,094,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Emid1
|
UTSW |
11 |
5,094,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Emid1
|
UTSW |
11 |
5,078,884 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Nature of Mutation |
Three transcripts of the B3gnt2 gene are displayed on Ensembl.
|
| Protein Function and Prediction |
B3gnt2 encodes the 397 amino acid ubiquitously expressed β1,3-N-acetylglucosaminyltransferase 2 (β3GnT2). β3GnT2 is a member of the β3GnTs that function in the initiation and extension of lactosamine chains on glycoproteins and glycolipids (1;2). β3GnT2 is a single-pass type 2 transmembrane protein localized to the Golgi (3). Using a knockout mouse model, studies determined that β3GnT2 is required for sensory axon connection formation and normal glomerular formation during olfactory development (1). In addition, β3GnT2 regulates the expression of poly-N-acetyllactosamine (PLN) glycans on adenylyl cyclase 3 (AC3); these glycans are required for cAMP synthesis/signaling in olfactory neurons (4).
B3gnt2Gt(KST308)Byg/ Gt(KST308)Byg; MGI: 3576265
involves: 129P2/OlaHsd * C57BL/6
Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli (1).
B3gnt2Gt(OST237555)Lex/ Gt(OST237555)Lex; MGI: 3529146
involves: 129S5/SvEvBrd * C57BL/6N
Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages (5).
B3gnt2tm1Dgen/tm1Dgen; MGI:3604461
involves: 129P2/OlaHsd * C57BL/6
Homozygotes for a reporter allele display behavioral despair and reduced anxiety.
|
| References |
1. Henion, T. R., Raitcheva, D., Grosholz, R., Biellmann, F., Skarnes, W. C., Hennet, T., and Schwarting, G. A. (2005) Beta1,3-N-Acetylglucosaminyltransferase 1 Glycosylation is Required for Axon Pathfinding by Olfactory Sensory Neurons. J Neurosci. 25, 1894-1903.
2. Zhou, D., Dinter, A., Gutierrez Gallego, R., Kamerling, J. P., Vliegenthart, J. F., Berger, E. G., and Hennet, T. (1999) A Beta-1,3-N-Acetylglucosaminyltransferase with Poly-N-Acetyllactosamine Synthase Activity is Structurally Related to Beta-1,3-Galactosyltransferases. Proc Natl Acad Sci U S A. 96, 406-411.
3. Shiraishi, N., Natsume, A., Togayachi, A., Endo, T., Akashima, T., Yamada, Y., Imai, N., Nakagawa, S., Koizumi, S., Sekine, S., Narimatsu, H., and Sasaki, K. (2001) Identification and Characterization of Three Novel Beta 1,3-N-Acetylglucosaminyltransferases Structurally Related to the Beta 1,3-Galactosyltransferase Family. J Biol Chem. 276, 3498-3507.
5. Togayachi, A., Kozono, Y., Ishida, H., Abe, S., Suzuki, N., Tsunoda, Y., Hagiwara, K., Kuno, A., Ohkura, T., Sato, N., Sato, T., Hirabayashi, J., Ikehara, Y., Tachibana, K., and Narimatsu, H. (2007) Polylactosamine on Glycoproteins Influences Basal Levels of Lymphocyte and Macrophage Activation. Proc Natl Acad Sci U S A. 104, 15829-15834. |
| Posted On |
2013-01-20 |
| Science Writer |
Anne Murray |
Incidental Mutation