Incidental Mutation 'R5365:Mill2'
ID |
423082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mill2
|
Ensembl Gene |
ENSMUSG00000040987 |
Gene Name |
MHC I like leukocyte 2 |
Synonyms |
|
MMRRC Submission |
042943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R5365 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
18573891-18599327 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18592339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 320
(V320A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072386]
[ENSMUST00000072415]
[ENSMUST00000206487]
[ENSMUST00000227379]
[ENSMUST00000228493]
|
AlphaFold |
Q8HWE5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072386
AA Change: V320A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000072223 Gene: ENSMUSG00000040987 AA Change: V320A
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 benign
Transcript: ENSMUST00000072415
AA Change: V305A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000072246 Gene: ENSMUSG00000040987 AA Change: V305A
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 benign
Transcript: ENSMUST00000227379
AA Change: V305A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228493
AA Change: V320A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
Ces2e |
T |
C |
8: 105,653,846 (GRCm39) |
|
probably null |
Het |
Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
Ctsq |
T |
A |
13: 61,185,632 (GRCm39) |
I170F |
possibly damaging |
Het |
Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
Cyp3a16 |
A |
C |
5: 145,389,597 (GRCm39) |
M256R |
probably damaging |
Het |
Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
Lrit1 |
A |
G |
14: 36,784,099 (GRCm39) |
T476A |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
Ywhaq |
T |
C |
12: 21,446,389 (GRCm39) |
E159G |
possibly damaging |
Het |
Zdhhc12 |
A |
G |
2: 29,983,521 (GRCm39) |
V27A |
probably damaging |
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 |
|
IGL02876:Mill2
|
APN |
7 |
18,590,432 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATGCCGGGCTTTTAATCTG -3'
(R):5'- ACAACAGGGAGTGCAGATCC -3'
Sequencing Primer
(F):5'- ACATGCCGGGCTTTTAATCTGTATAC -3'
(R):5'- TGCAGATCCAGCTGAAGC -3'
|
Posted On |
2016-08-04 |