Incidental Mutation 'R6016:Mill2'
| ID |
478598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mill2
|
| Ensembl Gene |
ENSMUSG00000040987 |
| Gene Name |
MHC I like leukocyte 2 |
| Synonyms |
|
| MMRRC Submission |
043255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18573891-18599327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18590373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 151
(S151I)
|
| 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: S151I
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: S151I
| 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: S136I
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: S136I
| 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: S136I
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228493
AA Change: S151I
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
| Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
| Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
| Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
| Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
| Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
| Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
| Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
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 |
|
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 |
|
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'- CCTAAGCCATGATTCTGGGC -3'
(R):5'- TATCTCTGGAGGTGAGCAGG -3'
Sequencing Primer
(F):5'- ATGATTCTGGGCAGGGCAC -3'
(R):5'- GGTGAGCAGGACATATATCATCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation