Incidental Mutation 'IGL02396:Milr1'
| ID |
294350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106642052-106659620 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 106656065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 212
(Y212*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021060]
[ENSMUST00000086353]
[ENSMUST00000106794]
[ENSMUST00000127061]
[ENSMUST00000147326]
[ENSMUST00000155107]
[ENSMUST00000182896]
[ENSMUST00000182479]
[ENSMUST00000183111]
[ENSMUST00000182908]
[ENSMUST00000182023]
|
| AlphaFold |
Q3TB92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021060
|
| SMART Domains |
Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
SCOP:d1g5ha2
|
41 |
330 |
4e-36 |
SMART |
|
Pfam:HGTP_anticodon
|
354 |
452 |
3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086353
AA Change: H215N
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000083538
Gene: ENSMUSG00000040528
AA Change: H215N
| 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 benign
Transcript: ENSMUST00000106794
AA Change: H214N
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102406
Gene: ENSMUSG00000040528
AA Change: H214N
| 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 benign
Transcript: ENSMUST00000127061
|
| SMART Domains |
Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PDB:1G5I|D
|
17 |
170 |
1e-100 |
PDB |
|
SCOP:d1g5ha2
|
41 |
163 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147326
AA Change: H215N
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138742
Gene: ENSMUSG00000040528
AA Change: H215N
| 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 benign
Transcript: ENSMUST00000155107
|
| SMART Domains |
Protein: ENSMUSP00000118975
Gene: ENSMUSG00000020718
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PDB:1G5I|D
|
17 |
122 |
3e-69 |
PDB |
|
SCOP:d1g5ha2
|
41 |
120 |
3e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157775
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182896
AA Change: Y212*
|
| SMART Domains |
Protein: ENSMUSP00000138617
Gene: ENSMUSG00000040528
AA Change: Y212*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182479
AA Change: H112N
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138386
Gene: ENSMUSG00000040528
AA Change: H112N
| 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: ENSMUST00000183111
AA Change: H177N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138513
Gene: ENSMUSG00000040528
AA Change: H177N
| 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: H177N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138678
Gene: ENSMUSG00000040528
AA Change: H177N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182023
|
| SMART Domains |
Protein: ENSMUSP00000138286
Gene: ENSMUSG00000040528
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IG
|
58 |
139 |
3.74e-3 |
SMART |
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
| Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
| Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
| Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
| Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
| Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
| Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
| Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
| Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
| Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
| Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
| Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
| Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
| Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
| Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
| Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
| Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
| Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
| Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
| Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
| Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
| Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
| Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation