Incidental Mutation 'R1334:H2-Eb2'
| ID |
156825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-Eb2
|
| Ensembl Gene |
ENSMUSG00000067341 |
| Gene Name |
histocompatibility 2, class II antigen E beta2 |
| Synonyms |
H-2Eb2, Ia5, A130038H09Rik, Ia-5 |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34544639-34560386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34553324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 170
(V170G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050325]
|
| AlphaFold |
Q3UUV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050325
AA Change: V170G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: V170G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
MHC_II_beta
|
42 |
115 |
8.29e-35 |
SMART |
|
IGc1
|
140 |
211 |
1.24e-26 |
SMART |
|
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
Het |
|
| Other mutations in H2-Eb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:H2-Eb2
|
APN |
17 |
34,553,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00965:H2-Eb2
|
APN |
17 |
34,544,771 (GRCm39) |
splice site |
probably null |
|
|
IGL01380:H2-Eb2
|
APN |
17 |
34,554,783 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02057:H2-Eb2
|
APN |
17 |
34,554,741 (GRCm39) |
splice site |
probably benign |
|
|
IGL02190:H2-Eb2
|
APN |
17 |
34,553,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:H2-Eb2
|
APN |
17 |
34,544,661 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0469:H2-Eb2
|
UTSW |
17 |
34,553,218 (GRCm39) |
nonsense |
probably null |
|
|
R0510:H2-Eb2
|
UTSW |
17 |
34,553,218 (GRCm39) |
nonsense |
probably null |
|
|
R1169:H2-Eb2
|
UTSW |
17 |
34,552,331 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1598:H2-Eb2
|
UTSW |
17 |
34,553,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:H2-Eb2
|
UTSW |
17 |
34,553,278 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2103:H2-Eb2
|
UTSW |
17 |
34,553,278 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4191:H2-Eb2
|
UTSW |
17 |
34,563,529 (GRCm39) |
unclassified |
probably benign |
|
|
R4194:H2-Eb2
|
UTSW |
17 |
34,552,300 (GRCm39) |
missense |
probably benign |
|
|
R4461:H2-Eb2
|
UTSW |
17 |
34,552,497 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4774:H2-Eb2
|
UTSW |
17 |
34,553,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4882:H2-Eb2
|
UTSW |
17 |
34,553,230 (GRCm39) |
missense |
probably benign |
|
|
R5663:H2-Eb2
|
UTSW |
17 |
34,552,382 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6913:H2-Eb2
|
UTSW |
17 |
34,552,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7139:H2-Eb2
|
UTSW |
17 |
34,553,395 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7457:H2-Eb2
|
UTSW |
17 |
34,553,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9173:H2-Eb2
|
UTSW |
17 |
34,552,491 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:H2-Eb2
|
UTSW |
17 |
34,553,283 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACCCAACAGATCCTGCTGTC -3'
(R):5'- CAGAGTCAAGGGTTTCCCACTCAC -3'
Sequencing Primer
(F):5'- CCTACAGGGAGGACAGCTTTATC -3'
(R):5'- CTCCACTCCACTGTGACAGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation