Incidental Mutation 'R5351:H2-T3'
| ID |
423817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T3
|
| Ensembl Gene |
ENSMUSG00000054128 |
| Gene Name |
histocompatibility 2, T region locus 3 |
| Synonyms |
TL, H2-Tw3, H-2T3 |
| MMRRC Submission |
042930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36185572-36190287 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36190073 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 17
(Q17R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025312]
[ENSMUST00000095300]
[ENSMUST00000097329]
[ENSMUST00000102675]
[ENSMUST00000172663]
[ENSMUST00000173133]
[ENSMUST00000173629]
[ENSMUST00000174101]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025312
AA Change: Q19R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: Q19R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
27 |
120 |
2.5e-40 |
PFAM |
|
Pfam:MHC_I
|
114 |
161 |
3.7e-14 |
PFAM |
|
IGc1
|
180 |
251 |
1.6e-20 |
SMART |
|
transmembrane domain
|
271 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000095300
AA Change: Q17R
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000097329
AA Change: Q17R
|
| SMART Domains |
Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128
AA Change: Q17R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102675
AA Change: Q19R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: Q19R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
27 |
205 |
9.3e-85 |
PFAM |
|
IGc1
|
224 |
295 |
1.6e-20 |
SMART |
|
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172663
AA Change: Q17R
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: Q17R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
5.1e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173133
AA Change: Q19R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: Q19R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
27 |
205 |
2.6e-84 |
PFAM |
|
IGc1
|
224 |
295 |
1.6e-20 |
SMART |
|
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173629
AA Change: Q17R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128
AA Change: Q17R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
119 |
1.4e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174101
AA Change: Q17R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: This locus contains the sole gene encoding the thymic leukemia antigen or TL antigen in "b haplotype" mice such as C57BL/6. Mice homozygous for a targeted knock-out are viable with normal reproduction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,729,292 |
S34C |
probably damaging |
Het |
| Apol7e |
T |
G |
15: 77,718,311 |
*370G |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,268,201 |
I290T |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 18,067,234 |
V46D |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,178,078 |
Y345H |
probably damaging |
Het |
| Cirbp |
T |
C |
10: 80,170,302 |
|
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,115,321 |
H225Q |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,829,180 |
V252A |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,803,833 |
Y268C |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,308,909 |
V439A |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,300,949 |
M557T |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,790,358 |
E1229G |
possibly damaging |
Het |
| Mynn |
C |
T |
3: 30,607,542 |
R258W |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,560,849 |
N2180K |
probably damaging |
Het |
| Olfr1062 |
A |
G |
2: 86,423,266 |
S137P |
probably damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,197,766 |
G728D |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,991,391 |
D882G |
probably damaging |
Het |
| Prkar2b |
C |
T |
12: 31,972,127 |
G60R |
probably damaging |
Het |
| Prkdc |
G |
C |
16: 15,831,312 |
V3717L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,044,355 |
V250E |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,189,839 |
L254P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,298,284 |
*239W |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,108,934 |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,754,824 |
I22042F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,943,041 |
V2339A |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,606,513 |
S1449R |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,816,264 |
K850M |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,956,751 |
E358G |
probably benign |
Het |
|
| Other mutations in H2-T3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:H2-T3
|
APN |
17 |
36187041 |
missense |
probably benign |
|
|
IGL01922:H2-T3
|
APN |
17 |
36187100 |
missense |
possibly damaging |
0.53 |
|
IGL02389:H2-T3
|
APN |
17 |
36186608 |
missense |
probably benign |
0.01 |
|
IGL02423:H2-T3
|
APN |
17 |
36187356 |
missense |
probably damaging |
0.98 |
|
IGL02963:H2-T3
|
APN |
17 |
36189634 |
missense |
probably damaging |
0.98 |
|
IGL03298:H2-T3
|
APN |
17 |
36189428 |
missense |
probably damaging |
1.00 |
|
hyperbole
|
UTSW |
17 |
36187345 |
missense |
probably damaging |
1.00 |
|
simile
|
UTSW |
17 |
36187070 |
missense |
probably damaging |
0.99 |
|
R1479:H2-T3
|
UTSW |
17 |
36189428 |
missense |
probably damaging |
1.00 |
|
R2907:H2-T3
|
UTSW |
17 |
36187455 |
missense |
possibly damaging |
0.90 |
|
R3623:H2-T3
|
UTSW |
17 |
36190065 |
missense |
possibly damaging |
0.91 |
|
R3624:H2-T3
|
UTSW |
17 |
36190065 |
missense |
possibly damaging |
0.91 |
|
R3779:H2-T3
|
UTSW |
17 |
36189682 |
missense |
probably damaging |
0.99 |
|
R4271:H2-T3
|
UTSW |
17 |
36189618 |
missense |
probably damaging |
1.00 |
|
R4586:H2-T3
|
UTSW |
17 |
36189344 |
splice site |
probably null |
|
|
R5387:H2-T3
|
UTSW |
17 |
36186702 |
missense |
probably benign |
0.00 |
|
R5474:H2-T3
|
UTSW |
17 |
36190107 |
missense |
probably damaging |
0.99 |
|
R5711:H2-T3
|
UTSW |
17 |
36187409 |
missense |
probably damaging |
1.00 |
|
R6458:H2-T3
|
UTSW |
17 |
36187019 |
missense |
possibly damaging |
0.53 |
|
R6849:H2-T3
|
UTSW |
17 |
36189805 |
missense |
probably benign |
0.32 |
|
R6956:H2-T3
|
UTSW |
17 |
36189371 |
missense |
probably damaging |
1.00 |
|
R6993:H2-T3
|
UTSW |
17 |
36187070 |
missense |
probably damaging |
0.99 |
|
R7336:H2-T3
|
UTSW |
17 |
36187345 |
missense |
probably damaging |
1.00 |
|
R7414:H2-T3
|
UTSW |
17 |
36187383 |
missense |
not run |
|
|
R8143:H2-T3
|
UTSW |
17 |
36187492 |
missense |
probably benign |
0.35 |
|
R8901:H2-T3
|
UTSW |
17 |
36187360 |
missense |
probably damaging |
0.99 |
|
R9697:H2-T3
|
UTSW |
17 |
36189852 |
missense |
probably damaging |
0.98 |
|
RF009:H2-T3
|
UTSW |
17 |
36189402 |
intron |
probably benign |
|
|
Z1176:H2-T3
|
UTSW |
17 |
36186580 |
missense |
possibly damaging |
0.86 |
|
Z1176:H2-T3
|
UTSW |
17 |
36186582 |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTAGAAGTACCTCAGCG -3'
(R):5'- TTTCAAAGGCCTTGCACTCCTG -3'
Sequencing Primer
(F):5'- GTGAGACTGTGACCTTCTCCCAG -3'
(R):5'- ACTCCTGTTGAGAGCAGGTAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation