Incidental Mutation 'IGL03406:H2-Q2'
| ID |
421603 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-Q2
|
| Ensembl Gene |
ENSMUSG00000091705 |
| Gene Name |
histocompatibility 2, Q region locus 2 |
| Synonyms |
Gm11132, H-2Q2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL03406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35561283-35565740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35561801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 97
(V97A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074806]
|
| AlphaFold |
Q4KN81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074806
AA Change: V97A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: V97A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
2.4e-90 |
PFAM |
|
IGc1
|
219 |
290 |
4.05e-22 |
SMART |
|
low complexity region
|
306 |
325 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
334 |
358 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173115
|
| SMART Domains |
Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1hdma1
|
2 |
19 |
5e-6 |
SMART |
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
50 |
74 |
1.5e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530016L24Rik |
T |
A |
12: 112,463,317 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
C |
T |
8: 89,044,947 (GRCm39) |
R228* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,014,378 (GRCm39) |
H132R |
probably benign |
Het |
| Cfap107 |
A |
G |
4: 144,150,414 (GRCm39) |
Y56H |
probably damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,459,500 (GRCm39) |
I78T |
probably benign |
Het |
| Fap |
A |
T |
2: 62,372,466 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
C |
T |
10: 99,280,641 (GRCm39) |
|
noncoding transcript |
Het |
| Gli3 |
T |
C |
13: 15,823,166 (GRCm39) |
I296T |
probably damaging |
Het |
| Hr |
T |
A |
14: 70,800,860 (GRCm39) |
|
probably null |
Het |
| Itgax |
C |
T |
7: 127,748,370 (GRCm39) |
T1133I |
possibly damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,566,194 (GRCm39) |
R339H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,615 (GRCm39) |
K1726E |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,203,483 (GRCm39) |
Y528H |
probably benign |
Het |
| Nmnat3 |
G |
A |
9: 98,281,530 (GRCm39) |
G44D |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,044 (GRCm39) |
D366V |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,424 (GRCm39) |
L68M |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,091,125 (GRCm39) |
|
probably benign |
Het |
| Ptpn22 |
C |
A |
3: 103,819,332 (GRCm39) |
N795K |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,549,739 (GRCm39) |
V289D |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,177,408 (GRCm39) |
D40G |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,875,310 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcad1 |
T |
A |
6: 65,069,510 (GRCm39) |
F530Y |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,747,684 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,415,598 (GRCm39) |
I379N |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,567 (GRCm39) |
N39S |
probably benign |
Het |
| Ubash3b |
T |
A |
9: 40,948,775 (GRCm39) |
Y180F |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,556 (GRCm39) |
T366A |
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,450 (GRCm39) |
C419S |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,281 (GRCm39) |
T345A |
probably benign |
Het |
|
| Other mutations in H2-Q2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00962:H2-Q2
|
APN |
17 |
35,561,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01148:H2-Q2
|
APN |
17 |
35,561,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:H2-Q2
|
APN |
17 |
35,561,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:H2-Q2
|
UTSW |
17 |
35,564,152 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0646:H2-Q2
|
UTSW |
17 |
35,564,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:H2-Q2
|
UTSW |
17 |
35,564,152 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2055:H2-Q2
|
UTSW |
17 |
35,564,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:H2-Q2
|
UTSW |
17 |
35,564,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3898:H2-Q2
|
UTSW |
17 |
35,561,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:H2-Q2
|
UTSW |
17 |
35,562,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:H2-Q2
|
UTSW |
17 |
35,562,155 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5302:H2-Q2
|
UTSW |
17 |
35,563,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:H2-Q2
|
UTSW |
17 |
35,562,217 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6453:H2-Q2
|
UTSW |
17 |
35,563,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6633:H2-Q2
|
UTSW |
17 |
35,561,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6979:H2-Q2
|
UTSW |
17 |
35,564,623 (GRCm39) |
splice site |
probably null |
|
|
R8248:H2-Q2
|
UTSW |
17 |
35,563,841 (GRCm39) |
missense |
probably benign |
|
|
R8306:H2-Q2
|
UTSW |
17 |
35,561,301 (GRCm39) |
unclassified |
probably benign |
|
|
R8714:H2-Q2
|
UTSW |
17 |
35,562,338 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9640:H2-Q2
|
UTSW |
17 |
35,562,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:H2-Q2
|
UTSW |
17 |
35,564,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:H2-Q2
|
UTSW |
17 |
35,561,318 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation