Incidental Mutation 'R1310:H2-T24'
| ID |
157915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T24
|
| Ensembl Gene |
ENSMUSG00000053835 |
| Gene Name |
histocompatibility 2, T region locus 24 |
| Synonyms |
H-2T24 |
| MMRRC Submission |
039376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1310 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36316587-36331452 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 36325888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 234
(Y234*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113760]
[ENSMUST00000174063]
|
| AlphaFold |
F8VQG4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113760
AA Change: Y234*
|
| SMART Domains |
Protein: ENSMUSP00000109389
Gene: ENSMUSG00000053835
AA Change: Y234*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
18 |
204 |
3.2e-46 |
PFAM |
|
IGc1
|
223 |
294 |
2.61e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174063
|
| SMART Domains |
Protein: ENSMUSP00000133476
Gene: ENSMUSG00000053835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
18 |
114 |
1.3e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,754,936 (GRCm39) |
H678R |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,714,496 (GRCm39) |
V929A |
probably benign |
Het |
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,422,432 (GRCm39) |
E2G |
possibly damaging |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Drd3 |
A |
G |
16: 43,641,892 (GRCm39) |
K403E |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Or4x11 |
T |
A |
2: 89,868,047 (GRCm39) |
D261E |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,805 (GRCm39) |
M144I |
probably benign |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Sik3 |
A |
G |
9: 46,130,724 (GRCm39) |
E1170G |
possibly damaging |
Het |
| Soat1 |
A |
G |
1: 156,268,902 (GRCm39) |
L183P |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Yod1 |
C |
T |
1: 130,646,567 (GRCm39) |
A148V |
probably benign |
Het |
| Zfp850 |
A |
C |
7: 27,688,884 (GRCm39) |
S441R |
probably benign |
Het |
| Zfp976 |
G |
A |
7: 42,262,610 (GRCm39) |
P409L |
probably damaging |
Het |
|
| Other mutations in H2-T24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01818:H2-T24
|
APN |
17 |
36,328,128 (GRCm39) |
splice site |
probably benign |
|
|
IGL02268:H2-T24
|
APN |
17 |
36,328,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:H2-T24
|
APN |
17 |
36,328,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:H2-T24
|
APN |
17 |
36,326,368 (GRCm39) |
nonsense |
probably null |
|
|
IGL03387:H2-T24
|
APN |
17 |
36,317,671 (GRCm39) |
missense |
unknown |
|
|
R0131:H2-T24
|
UTSW |
17 |
36,325,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0131:H2-T24
|
UTSW |
17 |
36,325,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0132:H2-T24
|
UTSW |
17 |
36,325,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0334:H2-T24
|
UTSW |
17 |
36,325,772 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0531:H2-T24
|
UTSW |
17 |
36,326,463 (GRCm39) |
missense |
probably benign |
|
|
R0678:H2-T24
|
UTSW |
17 |
36,328,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:H2-T24
|
UTSW |
17 |
36,325,888 (GRCm39) |
nonsense |
probably null |
|
|
R1726:H2-T24
|
UTSW |
17 |
36,326,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3891:H2-T24
|
UTSW |
17 |
36,326,330 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3948:H2-T24
|
UTSW |
17 |
36,328,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4106:H2-T24
|
UTSW |
17 |
36,328,370 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4182:H2-T24
|
UTSW |
17 |
36,326,376 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4229:H2-T24
|
UTSW |
17 |
36,325,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5220:H2-T24
|
UTSW |
17 |
36,325,562 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6257:H2-T24
|
UTSW |
17 |
36,325,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7081:H2-T24
|
UTSW |
17 |
36,328,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7543:H2-T24
|
UTSW |
17 |
36,325,743 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7739:H2-T24
|
UTSW |
17 |
36,325,483 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8323:H2-T24
|
UTSW |
17 |
36,328,431 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8358:H2-T24
|
UTSW |
17 |
36,328,229 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9231:H2-T24
|
UTSW |
17 |
36,331,363 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9275:H2-T24
|
UTSW |
17 |
36,328,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9594:H2-T24
|
UTSW |
17 |
36,326,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9706:H2-T24
|
UTSW |
17 |
36,325,735 (GRCm39) |
missense |
probably benign |
0.32 |
|
V8831:H2-T24
|
UTSW |
17 |
36,328,216 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATAGGCTCTGTGCCCCTATTC -3'
(R):5'- CTTTACCCGAACTGGTAATGACCCC -3'
Sequencing Primer
(F):5'- CATTTCAGAACAAGGGGCTGC -3'
(R):5'- GTAGTTTCCCACAAGCAGATG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation