Incidental Mutation 'R4302:Mill2'
| ID |
322454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mill2
|
| Ensembl Gene |
ENSMUSG00000040987 |
| Gene Name |
MHC I like leukocyte 2 |
| Synonyms |
|
| MMRRC Submission |
041089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R4302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18573891-18599327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18590456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 179
(T179S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072386]
[ENSMUST00000072415]
[ENSMUST00000206487]
[ENSMUST00000227379]
[ENSMUST00000228493]
|
| AlphaFold |
Q8HWE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072386
AA Change: T179S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: T179S
| 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: T164S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: T164S
| 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: T164S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228493
AA Change: T179S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.4674 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,929,645 (GRCm39) |
Q217* |
probably null |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,823,664 (GRCm39) |
I183V |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,077,880 (GRCm39) |
S2941T |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Hcfc1 |
A |
G |
X: 72,992,972 (GRCm39) |
S1398P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,226,171 (GRCm39) |
I2501V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,740,019 (GRCm39) |
D1664G |
probably benign |
Het |
| Ncf4 |
T |
C |
15: 78,144,962 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,824,341 (GRCm39) |
S154P |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,484,875 (GRCm39) |
S50P |
probably benign |
Het |
| Or11j4 |
T |
C |
14: 50,630,903 (GRCm39) |
I230T |
probably benign |
Het |
| Or12d16-ps1 |
T |
A |
17: 37,706,377 (GRCm39) |
N315K |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,295 (GRCm39) |
T29A |
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,090,270 (GRCm39) |
T631A |
probably benign |
Het |
| Rps11 |
T |
C |
7: 44,772,368 (GRCm39) |
M80V |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,097,031 (GRCm39) |
Y104H |
probably benign |
Het |
| Sgsm3 |
T |
A |
15: 80,894,502 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,365,154 (GRCm39) |
L162F |
probably benign |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Stk24 |
A |
G |
14: 121,529,494 (GRCm39) |
L386S |
probably benign |
Het |
| Tfcp2 |
G |
T |
15: 100,412,730 (GRCm39) |
N307K |
possibly damaging |
Het |
| Trbv21 |
T |
A |
6: 41,179,702 (GRCm39) |
V6D |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,562 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
A |
16: 21,314,664 (GRCm39) |
L158Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGTTTTCAAGGGGCAGAG -3'
(R):5'- ACAGAGCCCCTTGTCAGTAC -3'
Sequencing Primer
(F):5'- AGAGCACTGGATAGTCCCTTCTAG -3'
(R):5'- AGTACCTGTATCCTGCAGACCG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation