Incidental Mutation 'IGL02876:Mill2'
| ID |
406222 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mill2
|
| Ensembl Gene |
ENSMUSG00000040987 |
| Gene Name |
MHC I like leukocyte 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL02876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18573891-18599327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18590432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 156
(F156L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072386]
[ENSMUST00000072415]
[ENSMUST00000206487]
[ENSMUST00000227379]
[ENSMUST00000228493]
|
| AlphaFold |
Q8HWE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072386
AA Change: F171L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: F171L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_3
|
39 |
224 |
2.5e-14 |
PFAM |
|
Pfam:MHC_I
|
49 |
225 |
1.5e-33 |
PFAM |
|
IGc1
|
244 |
316 |
7.82e-6 |
SMART |
|
low complexity region
|
332 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072415
AA Change: F156L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: F156L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
34 |
210 |
5.9e-33 |
PFAM |
|
IGc1
|
229 |
301 |
7.82e-6 |
SMART |
|
low complexity region
|
317 |
339 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207014
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227379
AA Change: F156L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228493
AA Change: F171L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
A |
G |
4: 144,282,343 (GRCm39) |
Y150H |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,883,576 (GRCm39) |
V564A |
probably damaging |
Het |
| Adamts15 |
A |
T |
9: 30,815,818 (GRCm39) |
N679K |
probably damaging |
Het |
| Angpt1 |
T |
G |
15: 42,290,373 (GRCm39) |
D497A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,308,164 (GRCm39) |
K849R |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,391 (GRCm39) |
V1137A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,610,746 (GRCm39) |
I297V |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,604,071 (GRCm39) |
V454A |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,338,651 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,128 (GRCm39) |
K517* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,469,492 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
T |
A |
15: 82,273,697 (GRCm39) |
Q427L |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,825,100 (GRCm39) |
V706M |
probably damaging |
Het |
| Entpd8 |
A |
C |
2: 24,975,072 (GRCm39) |
S428R |
probably benign |
Het |
| Gm10283 |
T |
C |
8: 60,954,253 (GRCm39) |
|
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,307,995 (GRCm39) |
V363E |
probably damaging |
Het |
| Hoxb5 |
T |
A |
11: 96,194,594 (GRCm39) |
M52K |
probably damaging |
Het |
| Ift52 |
T |
C |
2: 162,878,627 (GRCm39) |
V307A |
probably benign |
Het |
| Igkv1-115 |
T |
C |
6: 68,138,424 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm5a |
T |
C |
6: 120,367,605 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,057,687 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
G |
A |
6: 134,433,077 (GRCm39) |
P1418L |
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,217,378 (GRCm39) |
R85G |
probably damaging |
Het |
| Myrip |
A |
T |
9: 120,261,740 (GRCm39) |
D451V |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,539 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Pdzph1 |
C |
A |
17: 59,281,064 (GRCm39) |
S406I |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,184,116 (GRCm39) |
|
probably benign |
Het |
| Rxfp4 |
T |
A |
3: 88,559,742 (GRCm39) |
R236S |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,722,679 (GRCm39) |
M2604V |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,377,673 (GRCm39) |
|
probably benign |
Het |
| Spata33 |
A |
T |
8: 123,948,719 (GRCm39) |
H88L |
probably damaging |
Het |
| Spcs3 |
A |
T |
8: 54,979,486 (GRCm39) |
N98K |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,414 (GRCm39) |
S413P |
probably damaging |
Het |
| Stap2 |
T |
C |
17: 56,306,961 (GRCm39) |
R239G |
probably benign |
Het |
| Surf6 |
A |
G |
2: 26,782,638 (GRCm39) |
Y230H |
probably damaging |
Het |
| Tasp1 |
C |
T |
2: 139,676,283 (GRCm39) |
V382M |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,933,338 (GRCm39) |
A642E |
possibly damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,558 (GRCm39) |
T704S |
probably damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,791,145 (GRCm39) |
D61V |
probably damaging |
Het |
| Zc3h12d |
G |
A |
10: 7,738,364 (GRCm39) |
M223I |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,687,875 (GRCm39) |
S934T |
probably benign |
Het |
|
| Other mutations in Mill2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01861:Mill2
|
APN |
7 |
18,590,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02465:Mill2
|
APN |
7 |
18,592,168 (GRCm39) |
nonsense |
probably null |
|
|
R1725:Mill2
|
UTSW |
7 |
18,573,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1945:Mill2
|
UTSW |
7 |
18,575,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1964:Mill2
|
UTSW |
7 |
18,590,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Mill2
|
UTSW |
7 |
18,590,413 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3160:Mill2
|
UTSW |
7 |
18,590,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3162:Mill2
|
UTSW |
7 |
18,590,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4302:Mill2
|
UTSW |
7 |
18,590,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4946:Mill2
|
UTSW |
7 |
18,590,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5121:Mill2
|
UTSW |
7 |
18,590,591 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5365:Mill2
|
UTSW |
7 |
18,592,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5557:Mill2
|
UTSW |
7 |
18,589,884 (GRCm39) |
nonsense |
probably null |
|
|
R5736:Mill2
|
UTSW |
7 |
18,592,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5998:Mill2
|
UTSW |
7 |
18,573,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6004:Mill2
|
UTSW |
7 |
18,590,463 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6016:Mill2
|
UTSW |
7 |
18,590,373 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6045:Mill2
|
UTSW |
7 |
18,590,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6534:Mill2
|
UTSW |
7 |
18,590,521 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6913:Mill2
|
UTSW |
7 |
18,590,351 (GRCm39) |
missense |
probably null |
1.00 |
|
R7386:Mill2
|
UTSW |
7 |
18,592,215 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8898:Mill2
|
UTSW |
7 |
18,590,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9229:Mill2
|
UTSW |
7 |
18,590,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9291:Mill2
|
UTSW |
7 |
18,575,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9428:Mill2
|
UTSW |
7 |
18,573,950 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Mill2
|
UTSW |
7 |
18,590,324 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation