Incidental Mutation 'R5998:Mill2'
| ID |
480673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mill2
|
| Ensembl Gene |
ENSMUSG00000040987 |
| Gene Name |
MHC I like leukocyte 2 |
| Synonyms |
|
| MMRRC Submission |
044177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R5998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18573891-18599327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18573989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 25
(R25G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072386]
[ENSMUST00000072415]
[ENSMUST00000206487]
[ENSMUST00000227379]
[ENSMUST00000228493]
|
| AlphaFold |
Q8HWE5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000072386
AA Change: R25G
|
| SMART Domains |
Protein: ENSMUSP00000072223
Gene: ENSMUSG00000040987
AA Change: R25G
| 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: R25G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072246
Gene: ENSMUSG00000040987
AA Change: R25G
| 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 |
unknown
Transcript: ENSMUST00000206487
AA Change: R25G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227379
AA Change: R25G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228493
AA Change: R25G
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| 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 |
|---|
| Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
| Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
| Btbd19 |
T |
A |
4: 116,978,196 (GRCm39) |
E234V |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,305,622 (GRCm39) |
F28L |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,677,299 (GRCm39) |
T533I |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
| Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
| Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
| Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,289,704 (GRCm39) |
D241G |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,980,926 (GRCm39) |
V256A |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
probably damaging |
Het |
| Zfp780b |
T |
A |
7: 27,664,047 (GRCm39) |
K169N |
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 |
|
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'- GACATTCAGATGTGAGTAACTCATC -3'
(R):5'- AAGCCTTCCTCCAGTTTCAG -3'
Sequencing Primer
(F):5'- GCAGATCTCTGGTCTACAAAGTG -3'
(R):5'- TGAATTTTCCAGCCCAGGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation