Incidental Mutation 'R0678:H2-T24'
ID |
61716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T24
|
Ensembl Gene |
ENSMUSG00000053835 |
Gene Name |
histocompatibility 2, T region locus 24 |
Synonyms |
H-2T24 |
MMRRC Submission |
038863-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0678 (G1)
|
Quality Score |
138 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36316587-36331452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36328333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 50
(F50Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113760]
[ENSMUST00000174063]
|
AlphaFold |
F8VQG4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113760
AA Change: F50Y
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109389 Gene: ENSMUSG00000053835 AA Change: F50Y
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 damaging
Transcript: ENSMUST00000174063
AA Change: F50Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133476 Gene: ENSMUSG00000053835 AA Change: F50Y
Domain | Start | End | E-Value | Type |
Pfam:MHC_I
|
18 |
114 |
1.3e-23 |
PFAM |
|
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-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly 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-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 |
|
R1161:H2-T24
|
UTSW |
17 |
36,325,888 (GRCm39) |
nonsense |
probably null |
|
R1310: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'- AATCCCTGGCACATACCTGCTTG -3'
(R):5'- GCAGTATGGAATCCGATTCTCTTGGC -3'
Sequencing Primer
(F):5'- GGAAGCCATCTGCTCTCTGAC -3'
(R):5'- AATCCGATTCTCTTGGCTGGTG -3'
|
Posted On |
2013-07-30 |