Incidental Mutation 'R0678:H2-M5'
| ID |
61717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M5
|
| Ensembl Gene |
ENSMUSG00000024459 |
| Gene Name |
histocompatibility 2, M region locus 5 |
| Synonyms |
D130003B22Rik, H-2M5, CRW2 |
| MMRRC Submission |
038863-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0678 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37294953-37300429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37300034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 47
(F47L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169189]
|
| AlphaFold |
A7VMS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113667
|
| SMART Domains |
Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
53 |
124 |
1.26e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145260
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169189
AA Change: F47L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: F47L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
26 |
204 |
2.4e-69 |
PFAM |
|
IGc1
|
223 |
294 |
1.26e-18 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176712
AA Change: F16L
|
| SMART Domains |
Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: F16L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
1 |
174 |
7.5e-66 |
PFAM |
|
IGc1
|
193 |
264 |
1.26e-18 |
SMART |
|
transmembrane domain
|
278 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176784
AA Change: F16L
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Egfl7 |
C |
T |
2: 26,480,952 (GRCm39) |
R155C |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,843 (GRCm39) |
I912T |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,328,333 (GRCm39) |
F50Y |
probably damaging |
Het |
| Hif1a |
A |
G |
12: 73,990,965 (GRCm39) |
|
probably null |
Het |
| Ints11 |
T |
C |
4: 155,972,210 (GRCm39) |
I405T |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,748,294 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,174,933 (GRCm39) |
V857D |
probably damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,113,287 (GRCm39) |
E321G |
probably benign |
Het |
| Rab11fip3 |
G |
A |
17: 26,287,821 (GRCm39) |
P111S |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,781,692 (GRCm39) |
I35N |
possibly damaging |
Het |
| Rnf31 |
C |
A |
14: 55,839,170 (GRCm39) |
Y66* |
probably null |
Het |
| Sec31a |
T |
C |
5: 100,555,084 (GRCm39) |
I45M |
possibly damaging |
Het |
| Sele |
T |
C |
1: 163,882,298 (GRCm39) |
|
probably null |
Het |
| Serpina3i |
G |
T |
12: 104,232,978 (GRCm39) |
|
probably null |
Het |
| Sp6 |
T |
A |
11: 96,912,607 (GRCm39) |
W107R |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,349 (GRCm39) |
W467R |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,387 (GRCm39) |
F935L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,948,412 (GRCm39) |
H492L |
probably benign |
Het |
| Xrcc2 |
A |
G |
5: 25,903,261 (GRCm39) |
S37P |
possibly damaging |
Het |
| Zfand1 |
T |
A |
3: 10,413,577 (GRCm39) |
I31L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,184,171 (GRCm39) |
D1058N |
probably damaging |
Het |
|
| Other mutations in H2-M5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:H2-M5
|
APN |
17 |
37,298,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02870:H2-M5
|
APN |
17 |
37,299,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0106:H2-M5
|
UTSW |
17 |
37,300,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0361:H2-M5
|
UTSW |
17 |
37,298,328 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0676:H2-M5
|
UTSW |
17 |
37,300,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4594:H2-M5
|
UTSW |
17 |
37,298,697 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4816:H2-M5
|
UTSW |
17 |
37,300,309 (GRCm39) |
unclassified |
probably benign |
|
|
R5071:H2-M5
|
UTSW |
17 |
37,298,076 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7070:H2-M5
|
UTSW |
17 |
37,300,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7489:H2-M5
|
UTSW |
17 |
37,300,363 (GRCm39) |
missense |
unknown |
|
|
R7641:H2-M5
|
UTSW |
17 |
37,298,323 (GRCm39) |
missense |
probably benign |
|
|
R7908:H2-M5
|
UTSW |
17 |
37,298,571 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8958:H2-M5
|
UTSW |
17 |
37,299,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:H2-M5
|
UTSW |
17 |
37,299,422 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCGTCCGTAAGGGATGTGAAAG -3'
(R):5'- GCTTACCATCAGTGTCAGGTGTCAG -3'
Sequencing Primer
(F):5'- GAAAGGGTTACTCACCATCCTTG -3'
(R):5'- GCCTGAACTGACTGCATATCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation