Incidental Mutation 'R5425:H2-T5'
ID |
426848 |
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 |
042991-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R5425 (G1)
|
Quality Score |
209 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 36479377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 8
(L8R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040467]
[ENSMUST00000097335]
[ENSMUST00000173353]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040467
AA Change: L8R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036092 Gene: ENSMUSG00000073402 AA Change: L8R
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 |
unknown
Transcript: ENSMUST00000097335
AA Change: L8R
|
SMART Domains |
Protein: ENSMUSP00000094947 Gene: ENSMUSG00000073402 AA Change: L8R
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 |
unknown
Transcript: ENSMUST00000173353
AA Change: L8R
|
SMART Domains |
Protein: ENSMUSP00000133663 Gene: ENSMUSG00000073402 AA Change: L8R
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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,864,254 (GRCm39) |
E465G |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Aida |
T |
A |
1: 183,103,201 (GRCm39) |
C174S |
possibly damaging |
Het |
Aldh1a2 |
G |
A |
9: 71,160,286 (GRCm39) |
R104H |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,104,407 (GRCm39) |
L98P |
probably benign |
Het |
Ankmy1 |
G |
T |
1: 92,798,679 (GRCm39) |
Y20* |
probably null |
Het |
Arhgap9 |
C |
A |
10: 127,162,287 (GRCm39) |
N314K |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,417,119 (GRCm39) |
Y427H |
probably damaging |
Het |
Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
Bola3 |
G |
T |
6: 83,326,534 (GRCm39) |
G18W |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,731,334 (GRCm39) |
T138A |
probably benign |
Het |
Castor1 |
T |
A |
11: 4,171,689 (GRCm39) |
H304Q |
probably damaging |
Het |
Ccnd2 |
A |
G |
6: 127,127,580 (GRCm39) |
Y53H |
probably benign |
Het |
Cd101 |
T |
A |
3: 100,926,002 (GRCm39) |
D239V |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,052,428 (GRCm39) |
Q287L |
probably benign |
Het |
Cfap43 |
C |
T |
19: 47,885,371 (GRCm39) |
A415T |
possibly damaging |
Het |
Cfap74 |
A |
G |
4: 155,540,149 (GRCm39) |
|
probably benign |
Het |
Crnn |
A |
G |
3: 93,056,456 (GRCm39) |
K414R |
probably benign |
Het |
Csf1 |
A |
G |
3: 107,656,212 (GRCm39) |
L273P |
possibly damaging |
Het |
Dab2ip |
T |
G |
2: 35,600,003 (GRCm39) |
H206Q |
probably benign |
Het |
Dipk2a |
T |
C |
9: 94,419,745 (GRCm39) |
S62G |
probably damaging |
Het |
Diras2 |
A |
G |
13: 52,662,083 (GRCm39) |
S75P |
probably damaging |
Het |
Dst |
T |
C |
1: 34,218,831 (GRCm39) |
V1757A |
probably benign |
Het |
Dus4l |
A |
T |
12: 31,690,807 (GRCm39) |
H281Q |
probably damaging |
Het |
Faah |
A |
T |
4: 115,857,993 (GRCm39) |
M436K |
probably null |
Het |
Fat1 |
T |
C |
8: 45,478,922 (GRCm39) |
V2656A |
possibly damaging |
Het |
Ffar1 |
A |
C |
7: 30,560,204 (GRCm39) |
L231R |
probably damaging |
Het |
Gab1 |
T |
C |
8: 81,527,018 (GRCm39) |
K27E |
probably damaging |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Irx6 |
T |
C |
8: 93,404,145 (GRCm39) |
|
probably null |
Het |
Mcrs1 |
C |
A |
15: 99,141,569 (GRCm39) |
R376L |
probably damaging |
Het |
Mrgprb1 |
T |
A |
7: 48,097,719 (GRCm39) |
L64F |
possibly damaging |
Het |
Nck2 |
T |
G |
1: 43,593,552 (GRCm39) |
V253G |
probably benign |
Het |
Paip1 |
C |
T |
13: 119,566,702 (GRCm39) |
T12M |
possibly damaging |
Het |
Pdpk1 |
A |
T |
17: 24,317,095 (GRCm39) |
L256Q |
probably damaging |
Het |
Perm1 |
A |
G |
4: 156,302,752 (GRCm39) |
D432G |
probably benign |
Het |
Psg25 |
A |
T |
7: 18,258,709 (GRCm39) |
Y322* |
probably null |
Het |
Pzp |
G |
A |
6: 128,466,011 (GRCm39) |
A1223V |
probably damaging |
Het |
Rassf8 |
A |
T |
6: 145,761,268 (GRCm39) |
Y198F |
probably benign |
Het |
Repin1 |
A |
G |
6: 48,573,365 (GRCm39) |
Q42R |
probably benign |
Het |
Sirpb1b |
A |
C |
3: 15,613,729 (GRCm39) |
C51G |
probably damaging |
Het |
Snx13 |
C |
T |
12: 35,150,643 (GRCm39) |
Q316* |
probably null |
Het |
Spesp1 |
A |
G |
9: 62,189,331 (GRCm39) |
V5A |
possibly damaging |
Het |
Sprr2e |
G |
A |
3: 92,260,370 (GRCm39) |
C67Y |
unknown |
Het |
Tcaf3 |
G |
A |
6: 42,573,697 (GRCm39) |
P172S |
probably damaging |
Het |
Tmem126b |
A |
G |
7: 90,120,155 (GRCm39) |
I72T |
probably benign |
Het |
Tmem17 |
G |
T |
11: 22,468,624 (GRCm39) |
V188L |
probably benign |
Het |
Tnfrsf1b |
T |
C |
4: 144,955,678 (GRCm39) |
|
probably null |
Het |
Tshz2 |
A |
T |
2: 169,725,944 (GRCm39) |
Q180L |
probably damaging |
Het |
Ttc41 |
A |
T |
10: 86,612,494 (GRCm39) |
I1256F |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Ywhag |
G |
T |
5: 135,940,119 (GRCm39) |
H158Q |
probably benign |
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 |
R0670:H2-T5
|
UTSW |
17 |
36,478,990 (GRCm39) |
missense |
possibly damaging |
0.74 |
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 |
|
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'- GTGAAATACCGCATCGAGTGTG -3'
(R):5'- AGCAGGAATTATCTGGCAGG -3'
Sequencing Primer
(F):5'- CATCGAGTGTGGGCCTG -3'
(R):5'- CAGGAATTATCTGGCAGGTCTCGTC -3'
|
Posted On |
2016-09-01 |