Incidental Mutation 'R4182:H2-T24'
ID |
319792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T24
|
Ensembl Gene |
ENSMUSG00000053835 |
Gene Name |
histocompatibility 2, T region locus 24 |
Synonyms |
H-2T24 |
MMRRC Submission |
041018-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4182 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36316587-36331452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36326376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 174
(N174K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113760]
[ENSMUST00000174063]
|
AlphaFold |
F8VQG4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113760
AA Change: N174K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109389 Gene: ENSMUSG00000053835 AA Change: N174K
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,928,801 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,120,999 (GRCm39) |
|
probably null |
Het |
Cfap20 |
A |
T |
8: 96,151,284 (GRCm39) |
I19N |
probably damaging |
Het |
Clnk |
T |
A |
5: 38,905,193 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,894,675 (GRCm39) |
|
probably null |
Het |
Cux2 |
C |
T |
5: 122,006,555 (GRCm39) |
G905D |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Ddx59 |
T |
A |
1: 136,367,599 (GRCm39) |
S569T |
probably benign |
Het |
Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
Dnajc21 |
T |
C |
15: 10,460,019 (GRCm39) |
|
probably null |
Het |
Fam217a |
T |
C |
13: 35,094,239 (GRCm39) |
T416A |
possibly damaging |
Het |
Gbp9 |
T |
A |
5: 105,231,461 (GRCm39) |
Q375L |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,897,630 (GRCm39) |
|
probably benign |
Het |
Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
Nbea |
A |
G |
3: 55,915,848 (GRCm39) |
C875R |
probably damaging |
Het |
Nme1 |
G |
A |
11: 93,851,630 (GRCm39) |
T87I |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,915,663 (GRCm39) |
S124P |
probably benign |
Het |
Nrap |
C |
T |
19: 56,338,759 (GRCm39) |
V907M |
probably damaging |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Or4f59 |
G |
T |
2: 111,872,873 (GRCm39) |
P168Q |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,860,336 (GRCm39) |
N464S |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,529,078 (GRCm39) |
I75V |
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,277,914 (GRCm39) |
P416S |
probably damaging |
Het |
Saal1 |
A |
G |
7: 46,360,076 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
G |
9: 113,925,053 (GRCm39) |
E312G |
probably benign |
Het |
Tgfb2 |
T |
A |
1: 186,361,222 (GRCm39) |
D315V |
possibly damaging |
Het |
Tll1 |
C |
T |
8: 64,494,545 (GRCm39) |
D737N |
probably damaging |
Het |
Tmem115 |
A |
G |
9: 107,412,482 (GRCm39) |
T269A |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,155,538 (GRCm39) |
D490G |
probably damaging |
Het |
Vmn1r72 |
C |
T |
7: 11,403,995 (GRCm39) |
R151K |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,606,395 (GRCm39) |
F317Y |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zfp560 |
A |
G |
9: 20,258,744 (GRCm39) |
I706T |
probably benign |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
|
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 |
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'- TCCCTACCAACTACAGAGTGAG -3'
(R):5'- CTGGGAAATACATCTGTGGGG -3'
Sequencing Primer
(F):5'- ACAGAGTGAGCTTTTACCCTG -3'
(R):5'- AAATACATCTGTGGGGTCACTG -3'
|
Posted On |
2015-06-10 |