Incidental Mutation 'R6534:Mill2'
| ID |
520277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mill2
|
| Ensembl Gene |
ENSMUSG00000040987 |
| Gene Name |
MHC I like leukocyte 2 |
| Synonyms |
|
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18573891-18599327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18590521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 200
(D200E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072386]
[ENSMUST00000072415]
[ENSMUST00000206487]
[ENSMUST00000227379]
[ENSMUST00000228493]
|
| AlphaFold |
Q8HWE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072386
AA Change: D200E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: D200E
| 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 |
possibly damaging
Transcript: ENSMUST00000072415
AA Change: D185E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: D185E
| 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 |
possibly damaging
Transcript: ENSMUST00000227379
AA Change: D185E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228493
AA Change: D200E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
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 |
|
|
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 |
|
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 |
|
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'- AACTTTGGGCTGTGAGCTTC -3'
(R):5'- ATGGCTGGATCCTTCTGTCC -3'
Sequencing Primer
(F):5'- CTTCTGAGTAATGGGAGCACTAG -3'
(R):5'- TCCAAGCCCAATTGTTCATAACTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation