Incidental Mutation 'R5181:Milr1'
| ID |
397562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Milr1
|
| Ensembl Gene |
ENSMUSG00000040528 |
| Gene Name |
mast cell immunoglobulin like receptor 1 |
| Synonyms |
Gm885, Allergin-1, LOC380732 |
| MMRRC Submission |
042761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106642052-106659620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106645806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 116
(G116D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000086353]
[ENSMUST00000106794]
[ENSMUST00000147326]
[ENSMUST00000182023]
[ENSMUST00000182479]
[ENSMUST00000182896]
[ENSMUST00000182908]
[ENSMUST00000183111]
|
| AlphaFold |
Q3TB92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068021
|
| SMART Domains |
Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
32 |
118 |
3.54e-4 |
SMART |
|
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
|
IG_like
|
230 |
311 |
1.38e2 |
SMART |
|
IG_like
|
327 |
382 |
2e-1 |
SMART |
|
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
|
IG
|
497 |
584 |
5.49e-1 |
SMART |
|
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086353
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083538
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106794
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102406
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
1.5e-5 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147326
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138742
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182023
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138286
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182479
AA Change: G13D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138386
Gene: ENSMUSG00000040528
AA Change: G13D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
1 |
36 |
3e-19 |
BLAST |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182896
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138617
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182908
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138678
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183111
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138513
Gene: ENSMUSG00000040528
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.3701 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele have decreased mast cell degranulation and an increased susceptibility to type I hypersensitivity reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,764,937 (GRCm39) |
D642E |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,383,347 (GRCm39) |
V54A |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,917,614 (GRCm39) |
S595P |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,948,064 (GRCm39) |
E1208K |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,075,384 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,799 (GRCm39) |
H9L |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,951,747 (GRCm39) |
I403T |
possibly damaging |
Het |
| Cyrib |
T |
A |
15: 63,810,526 (GRCm39) |
M234L |
probably damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,386,347 (GRCm39) |
T407K |
possibly damaging |
Het |
| Dennd2b |
T |
C |
7: 109,155,997 (GRCm39) |
Y251C |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,793,618 (GRCm39) |
S29C |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,281,555 (GRCm39) |
T519A |
probably damaging |
Het |
| Isl2 |
G |
T |
9: 55,449,561 (GRCm39) |
R79L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,350,336 (GRCm39) |
D742E |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,711,792 (GRCm39) |
K176M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,627,665 (GRCm39) |
D66G |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,921,071 (GRCm39) |
D1397G |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,204 (GRCm39) |
H320R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,685,561 (GRCm39) |
Y562* |
probably null |
Het |
| Nrap |
G |
A |
19: 56,333,960 (GRCm39) |
H884Y |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,440,719 (GRCm39) |
D67N |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,426,981 (GRCm39) |
|
probably null |
Het |
| Pgm2l1 |
G |
A |
7: 99,910,965 (GRCm39) |
C303Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,753,243 (GRCm39) |
|
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,932 (GRCm39) |
I228T |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,536 (GRCm39) |
S585P |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,339 (GRCm39) |
I718T |
probably damaging |
Het |
| Rpp40 |
T |
C |
13: 36,080,695 (GRCm39) |
|
probably null |
Het |
| Skic2 |
T |
C |
17: 35,063,802 (GRCm39) |
D547G |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,118,519 (GRCm39) |
Y264F |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 75,896,221 (GRCm39) |
L578* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Sult2a4 |
T |
G |
7: 13,722,316 (GRCm39) |
I50L |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,683 (GRCm39) |
T288A |
possibly damaging |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmem98 |
T |
C |
11: 80,710,758 (GRCm39) |
V139A |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,851,954 (GRCm39) |
Y703H |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,946,703 (GRCm39) |
T868A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,665,225 (GRCm39) |
|
probably benign |
Het |
| Vipas39 |
A |
T |
12: 87,286,601 (GRCm39) |
W470R |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,001 (GRCm39) |
N335S |
possibly damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,387 (GRCm39) |
Y697H |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,156,203 (GRCm39) |
R461S |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,193,567 (GRCm39) |
L87Q |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,945,281 (GRCm39) |
K101* |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,705 (GRCm39) |
A404S |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
|
| Other mutations in Milr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Milr1
|
APN |
11 |
106,656,071 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02396:Milr1
|
APN |
11 |
106,656,065 (GRCm39) |
nonsense |
probably null |
|
|
IGL02525:Milr1
|
APN |
11 |
106,656,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02620:Milr1
|
APN |
11 |
106,645,744 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0010:Milr1
|
UTSW |
11 |
106,657,829 (GRCm39) |
makesense |
probably null |
|
|
R0240:Milr1
|
UTSW |
11 |
106,645,722 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Milr1
|
UTSW |
11 |
106,645,722 (GRCm39) |
nonsense |
probably null |
|
|
R1087:Milr1
|
UTSW |
11 |
106,645,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Milr1
|
UTSW |
11 |
106,654,708 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5023:Milr1
|
UTSW |
11 |
106,657,791 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5057:Milr1
|
UTSW |
11 |
106,657,791 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5169:Milr1
|
UTSW |
11 |
106,645,754 (GRCm39) |
nonsense |
probably null |
|
|
R6649:Milr1
|
UTSW |
11 |
106,648,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6868:Milr1
|
UTSW |
11 |
106,654,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Milr1
|
UTSW |
11 |
106,642,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7916:Milr1
|
UTSW |
11 |
106,654,688 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8265:Milr1
|
UTSW |
11 |
106,654,711 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9149:Milr1
|
UTSW |
11 |
106,652,105 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9422:Milr1
|
UTSW |
11 |
106,657,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACGAAGCCTTCTGTGTC -3'
(R):5'- TTCCCAGACTCTTGACAGAATG -3'
Sequencing Primer
(F):5'- CTGAACTCAAGTATGAACGTGGTC -3'
(R):5'- GACTCTTGACAGAATGCTTTCAACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation