Incidental Mutation 'R1087:Milr1'
| ID |
85079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Milr1
|
| Ensembl Gene |
ENSMUSG00000040528 |
| Gene Name |
mast cell immunoglobulin like receptor 1 |
| Synonyms |
Gm885, Allergin-1, LOC380732 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1087 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106642052-106659620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106645848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 130
(Y130C)
|
| 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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083538
Gene: ENSMUSG00000040528
AA Change: Y130C
| 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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102406
Gene: ENSMUSG00000040528
AA Change: Y130C
| 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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138742
Gene: ENSMUSG00000040528
AA Change: Y130C
| 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: Y130C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138286
Gene: ENSMUSG00000040528
AA Change: Y130C
| 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: Y27C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138386
Gene: ENSMUSG00000040528
AA Change: Y27C
| 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: Y130C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138617
Gene: ENSMUSG00000040528
AA Change: Y130C
| 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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138678
Gene: ENSMUSG00000040528
AA Change: Y130C
| 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: Y130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138513
Gene: ENSMUSG00000040528
AA Change: Y130C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
A |
G |
14: 25,870,603 (GRCm39) |
M56V |
unknown |
Het |
| Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,356,017 (GRCm39) |
R1232G |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,193,259 (GRCm39) |
M643L |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,206,106 (GRCm39) |
Y57C |
probably damaging |
Het |
| Car13 |
G |
A |
3: 14,706,885 (GRCm39) |
W6* |
probably null |
Het |
| Ccdc192 |
T |
C |
18: 57,863,870 (GRCm39) |
S225P |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,421,303 (GRCm39) |
I271T |
probably benign |
Het |
| Ces1f |
T |
A |
8: 93,984,923 (GRCm39) |
D468V |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,117,881 (GRCm39) |
Y130H |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,354,862 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Cnot11 |
T |
A |
1: 39,579,139 (GRCm39) |
S335T |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,806,581 (GRCm39) |
S461G |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,179,413 (GRCm39) |
M417I |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,779,937 (GRCm39) |
I612L |
probably benign |
Het |
| Endod1 |
A |
G |
9: 14,268,489 (GRCm39) |
V332A |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,639 (GRCm39) |
T213A |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,681,065 (GRCm39) |
I246F |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,695,946 (GRCm39) |
D113E |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,803,265 (GRCm39) |
E309G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,823,355 (GRCm39) |
I1013K |
probably damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,835,863 (GRCm39) |
E22G |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,528,375 (GRCm39) |
C361S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,561 (GRCm39) |
S1150P |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,821,800 (GRCm39) |
V701M |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,281,488 (GRCm39) |
R266G |
probably damaging |
Het |
| Nampt |
A |
G |
12: 32,883,042 (GRCm39) |
T76A |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
| Nms |
T |
G |
1: 38,983,192 (GRCm39) |
|
probably null |
Het |
| Or10w1 |
T |
A |
19: 13,632,376 (GRCm39) |
C194* |
probably null |
Het |
| Parp14 |
A |
G |
16: 35,678,658 (GRCm39) |
S437P |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,496,377 (GRCm39) |
M226V |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,592,204 (GRCm39) |
R216G |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,937,778 (GRCm39) |
K307R |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,534,727 (GRCm39) |
V266A |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,927,633 (GRCm39) |
E226G |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,618 (GRCm39) |
D212G |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,673 (GRCm39) |
V186D |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,186,803 (GRCm39) |
C895S |
probably damaging |
Het |
| Zswim8 |
C |
A |
14: 20,767,933 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
R5181:Milr1
|
UTSW |
11 |
106,645,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGTTTTCACGAAGCCTTCTGTGTC -3'
(R):5'- GATGAGCCATGTTCTTCCCAGACTC -3'
Sequencing Primer
(F):5'- CTGAACTCAAGTATGAACGTGGTC -3'
(R):5'- TTCCCAGACTCTTGACAGAATG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation