Incidental Mutation 'R0670:H2-T5'
ID |
61409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T5
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 5 |
Synonyms |
Gm8909, H2-T26, H-2T5 |
MMRRC Submission |
038855-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R0670 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 36478990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 86
(F86L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040467]
[ENSMUST00000097335]
[ENSMUST00000173353]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040467
AA Change: F58L
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036092 Gene: ENSMUSG00000073402 AA Change: F58L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
5.9e-96 |
PFAM |
IGc1
|
223 |
294 |
8.23e-23 |
SMART |
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000090537
|
SMART Domains |
Protein: ENSMUSP00000088025 Gene: ENSMUSG00000038311
Domain | Start | End | E-Value | Type |
SCOP:d2sqca2
|
105 |
173 |
2e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097335
AA Change: F86L
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000094947 Gene: ENSMUSG00000073402 AA Change: F86L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
54 |
232 |
7.3e-96 |
PFAM |
IGc1
|
251 |
322 |
8.23e-23 |
SMART |
transmembrane domain
|
338 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173353
AA Change: F86L
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133663 Gene: ENSMUSG00000073402 AA Change: F86L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
54 |
232 |
3.9e-93 |
PFAM |
IGc1
|
251 |
322 |
8.23e-23 |
SMART |
transmembrane domain
|
338 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174693
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
Het |
|
Other mutations in H2-T5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:H2-T5
|
APN |
17 |
36,476,246 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00534:H2-T5
|
APN |
17 |
36,479,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02312:H2-T5
|
APN |
17 |
36,476,299 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03346:H2-T5
|
APN |
17 |
36,479,001 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:H2-T5
|
UTSW |
17 |
36,478,874 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0005:H2-T5
|
UTSW |
17 |
36,473,084 (GRCm39) |
unclassified |
probably benign |
|
R0078:H2-T5
|
UTSW |
17 |
36,476,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0211:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:H2-T5
|
UTSW |
17 |
36,478,361 (GRCm39) |
missense |
probably benign |
0.42 |
R0233:H2-T5
|
UTSW |
17 |
36,478,361 (GRCm39) |
missense |
probably benign |
0.42 |
R0553:H2-T5
|
UTSW |
17 |
36,478,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R1718:H2-T5
|
UTSW |
17 |
36,472,676 (GRCm39) |
unclassified |
probably benign |
|
R1937:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R2571:H2-T5
|
UTSW |
17 |
36,478,553 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4393:H2-T5
|
UTSW |
17 |
36,472,861 (GRCm39) |
unclassified |
probably benign |
|
R4396:H2-T5
|
UTSW |
17 |
36,472,861 (GRCm39) |
unclassified |
probably benign |
|
R4409:H2-T5
|
UTSW |
17 |
36,476,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4505:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
R4506:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
R4507:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
R4579:H2-T5
|
UTSW |
17 |
36,472,649 (GRCm39) |
unclassified |
probably benign |
|
R4684:H2-T5
|
UTSW |
17 |
36,476,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4740:H2-T5
|
UTSW |
17 |
36,478,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R5087:H2-T5
|
UTSW |
17 |
36,476,308 (GRCm39) |
nonsense |
probably null |
|
R5103:H2-T5
|
UTSW |
17 |
36,472,577 (GRCm39) |
unclassified |
probably benign |
|
R5275:H2-T5
|
UTSW |
17 |
36,472,567 (GRCm39) |
splice site |
probably null |
|
R5425:H2-T5
|
UTSW |
17 |
36,479,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:H2-T5
|
UTSW |
17 |
36,478,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6727:H2-T5
|
UTSW |
17 |
36,476,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:H2-T5
|
UTSW |
17 |
36,478,965 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7985:H2-T5
|
UTSW |
17 |
36,478,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:H2-T5
|
UTSW |
17 |
36,479,154 (GRCm39) |
missense |
unknown |
|
R8872:H2-T5
|
UTSW |
17 |
36,476,293 (GRCm39) |
missense |
probably benign |
0.00 |
R9046:H2-T5
|
UTSW |
17 |
36,476,035 (GRCm39) |
critical splice donor site |
probably null |
|
R9296:H2-T5
|
UTSW |
17 |
36,479,169 (GRCm39) |
missense |
unknown |
|
Z1177:H2-T5
|
UTSW |
17 |
36,476,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGGACTCCTCCAAAGTGAAAGG -3'
(R):5'- ATCATTCCCAGATGGGGCAATGGC -3'
Sequencing Primer
(F):5'- CGAACCTAGACTTGGGACTG -3'
(R):5'- CCTGATACTGACGGAGACACG -3'
|
Posted On |
2013-07-30 |