Incidental Mutation 'R3758:Mill1'
ID |
271522 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mill1
|
Ensembl Gene |
ENSMUSG00000054005 |
Gene Name |
MHC I like leukocyte 1 |
Synonyms |
5530400I18Rik |
MMRRC Submission |
040739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R3758 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
17979272-18000017 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 17996628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066780]
|
AlphaFold |
Q8HWE7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000066780
|
SMART Domains |
Protein: ENSMUSP00000069083 Gene: ENSMUSG00000054005
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
60 |
236 |
3.8e-33 |
PFAM |
IGc1
|
255 |
327 |
3.53e-4 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
93% (28/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
A |
G |
17: 13,146,354 (GRCm39) |
|
probably benign |
Het |
Bcat1 |
T |
A |
6: 144,978,598 (GRCm39) |
I208F |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cd200r3 |
T |
G |
16: 44,784,991 (GRCm39) |
|
probably null |
Het |
Coq8b |
C |
T |
7: 26,941,652 (GRCm39) |
Q246* |
probably null |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,233,363 (GRCm39) |
S616P |
probably damaging |
Het |
Fkbp10 |
G |
A |
11: 100,313,451 (GRCm39) |
|
probably null |
Het |
Gabra1 |
G |
T |
11: 42,066,763 (GRCm39) |
D50E |
probably benign |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Hmgcs2 |
A |
G |
3: 98,198,406 (GRCm39) |
N103S |
probably damaging |
Het |
Htt |
A |
G |
5: 35,053,314 (GRCm39) |
H2549R |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,869,602 (GRCm39) |
N706D |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,862,558 (GRCm39) |
N1457S |
possibly damaging |
Het |
Nipa2 |
T |
C |
7: 55,585,689 (GRCm39) |
Y102C |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,631,641 (GRCm39) |
C32* |
probably null |
Het |
Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
Or4a78 |
A |
G |
2: 89,497,916 (GRCm39) |
F105L |
probably benign |
Het |
Or52r1b |
A |
G |
7: 102,691,177 (GRCm39) |
S159G |
probably benign |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,476,079 (GRCm39) |
D405G |
possibly damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Serpinb9b |
A |
G |
13: 33,219,571 (GRCm39) |
Y166C |
probably damaging |
Het |
Sprr1a |
T |
G |
3: 92,391,704 (GRCm39) |
K99T |
probably damaging |
Het |
Spsb4 |
A |
G |
9: 96,877,924 (GRCm39) |
V133A |
probably damaging |
Het |
Suz12 |
A |
G |
11: 79,915,768 (GRCm39) |
T391A |
probably benign |
Het |
Tor1aip2 |
A |
G |
1: 155,941,035 (GRCm39) |
E447G |
probably damaging |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
Other mutations in Mill1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Mill1
|
APN |
7 |
17,998,566 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01313:Mill1
|
APN |
7 |
17,998,558 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01417:Mill1
|
APN |
7 |
17,998,708 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01997:Mill1
|
APN |
7 |
17,989,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02282:Mill1
|
APN |
7 |
17,997,129 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03126:Mill1
|
APN |
7 |
17,989,832 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03197:Mill1
|
APN |
7 |
17,998,590 (GRCm39) |
missense |
probably benign |
0.02 |
R0513:Mill1
|
UTSW |
7 |
17,998,802 (GRCm39) |
nonsense |
probably null |
|
R0515:Mill1
|
UTSW |
7 |
17,998,798 (GRCm39) |
missense |
probably benign |
0.12 |
R1460:Mill1
|
UTSW |
7 |
17,996,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Mill1
|
UTSW |
7 |
17,979,572 (GRCm39) |
missense |
probably benign |
0.01 |
R2192:Mill1
|
UTSW |
7 |
17,998,544 (GRCm39) |
nonsense |
probably null |
|
R3704:Mill1
|
UTSW |
7 |
17,996,978 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4685:Mill1
|
UTSW |
7 |
17,989,853 (GRCm39) |
missense |
probably damaging |
0.98 |
R4753:Mill1
|
UTSW |
7 |
17,996,472 (GRCm39) |
missense |
probably benign |
0.28 |
R5763:Mill1
|
UTSW |
7 |
17,979,587 (GRCm39) |
missense |
probably benign |
0.03 |
R5938:Mill1
|
UTSW |
7 |
17,996,613 (GRCm39) |
missense |
probably benign |
0.00 |
R7757:Mill1
|
UTSW |
7 |
17,996,391 (GRCm39) |
missense |
probably benign |
0.02 |
R8094:Mill1
|
UTSW |
7 |
17,989,835 (GRCm39) |
missense |
probably benign |
0.01 |
R8972:Mill1
|
UTSW |
7 |
17,996,982 (GRCm39) |
missense |
probably benign |
0.00 |
R9620:Mill1
|
UTSW |
7 |
17,997,027 (GRCm39) |
missense |
probably benign |
0.01 |
R9694:Mill1
|
UTSW |
7 |
17,997,027 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Mill1
|
UTSW |
7 |
17,979,424 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTCGATGATGAGCCCTTCCTG -3'
(R):5'- CCCAGGCAATGACCTGTTATC -3'
Sequencing Primer
(F):5'- GATGAGCCCTTCCTGCCCTATAAG -3'
(R):5'- GACTTAATCTCTCAGTGGGGC -3'
|
Posted On |
2015-03-18 |