Incidental Mutation 'R6956:H2-T3'
| ID |
541480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T3
|
| Ensembl Gene |
ENSMUSG00000054128 |
| Gene Name |
histocompatibility 2, T region locus 3 |
| Synonyms |
TL, H-2T3, H2-Tw3 |
| MMRRC Submission |
045067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6956 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36500263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 144
(Y144F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134469
(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
|
| SMART Domains |
Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
| 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 |
probably benign
Transcript: ENSMUST00000095300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097329
|
| SMART Domains |
Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102675
AA Change: Y144F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: Y144F
| 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 damaging
Transcript: ENSMUST00000172663
AA Change: Y142F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: Y142F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
5.1e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173133
AA Change: Y144F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: Y144F
| 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 |
probably benign
Transcript: ENSMUST00000173629
|
| SMART Domains |
Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,781,762 (GRCm39) |
V945M |
probably benign |
Het |
| Amotl2 |
A |
G |
9: 102,601,967 (GRCm39) |
T371A |
probably damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,132 (GRCm39) |
I86T |
possibly damaging |
Het |
| C9 |
A |
T |
15: 6,474,945 (GRCm39) |
M35L |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,862,528 (GRCm39) |
P661T |
probably damaging |
Het |
| Ccdc202 |
T |
A |
14: 96,119,869 (GRCm39) |
W209R |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,303,349 (GRCm39) |
S293R |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,261,233 (GRCm39) |
N2500K |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,697,282 (GRCm39) |
S92P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,616,446 (GRCm39) |
I1172F |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,471,470 (GRCm39) |
S364G |
probably damaging |
Het |
| Dpp6 |
A |
T |
5: 27,803,819 (GRCm39) |
N255I |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,748 (GRCm39) |
I440T |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,688,099 (GRCm39) |
T937A |
probably damaging |
Het |
| Fam229b |
T |
A |
10: 39,009,843 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
A |
G |
5: 105,476,241 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Kel |
T |
G |
6: 41,664,907 (GRCm39) |
D7A |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,994,668 (GRCm39) |
V166A |
probably benign |
Het |
| Mapt |
T |
C |
11: 104,209,081 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
| Mboat1 |
T |
C |
13: 30,422,059 (GRCm39) |
V396A |
possibly damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,435,621 (GRCm39) |
D604G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,322 (GRCm39) |
T3324A |
unknown |
Het |
| Nalf1 |
T |
A |
8: 9,820,744 (GRCm39) |
Q92L |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,564,757 (GRCm39) |
I495V |
probably benign |
Het |
| Or6c208 |
A |
T |
10: 129,224,166 (GRCm39) |
K221N |
probably benign |
Het |
| Pfkfb2 |
T |
C |
1: 130,635,337 (GRCm39) |
N75D |
probably damaging |
Het |
| Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
| Rpgrip1l |
A |
C |
8: 92,012,941 (GRCm39) |
|
probably null |
Het |
| Scube1 |
T |
C |
15: 83,606,077 (GRCm39) |
Y65C |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Socs7 |
T |
C |
11: 97,267,849 (GRCm39) |
S327P |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,685,021 (GRCm39) |
D591E |
probably damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,748 (GRCm39) |
D4V |
possibly damaging |
Het |
| Tdpoz8 |
T |
C |
3: 92,981,279 (GRCm39) |
V25A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,002,788 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
G |
T |
9: 122,893,768 (GRCm39) |
M155I |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,036,183 (GRCm39) |
V891A |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,819,243 (GRCm39) |
E235G |
probably damaging |
Het |
| Usp2 |
T |
A |
9: 44,004,053 (GRCm39) |
V533E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,837,550 (GRCm39) |
I2665F |
probably damaging |
Het |
| Vmn2r31 |
G |
A |
7: 7,397,505 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn2r84 |
C |
A |
10: 130,225,136 (GRCm39) |
C458F |
probably damaging |
Het |
|
| Other mutations in H2-T3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:H2-T3
|
APN |
17 |
36,497,933 (GRCm39) |
missense |
probably benign |
|
|
IGL01922:H2-T3
|
APN |
17 |
36,497,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02389:H2-T3
|
APN |
17 |
36,497,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02423:H2-T3
|
APN |
17 |
36,498,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02963:H2-T3
|
APN |
17 |
36,500,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03298:H2-T3
|
APN |
17 |
36,500,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hyperbole
|
UTSW |
17 |
36,498,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
simile
|
UTSW |
17 |
36,497,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1479:H2-T3
|
UTSW |
17 |
36,500,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:H2-T3
|
UTSW |
17 |
36,498,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3623:H2-T3
|
UTSW |
17 |
36,500,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3624:H2-T3
|
UTSW |
17 |
36,500,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3779:H2-T3
|
UTSW |
17 |
36,500,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4271:H2-T3
|
UTSW |
17 |
36,500,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:H2-T3
|
UTSW |
17 |
36,500,236 (GRCm39) |
splice site |
probably null |
|
|
R5351:H2-T3
|
UTSW |
17 |
36,500,965 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5387:H2-T3
|
UTSW |
17 |
36,497,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5474:H2-T3
|
UTSW |
17 |
36,500,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5711:H2-T3
|
UTSW |
17 |
36,498,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:H2-T3
|
UTSW |
17 |
36,497,911 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6849:H2-T3
|
UTSW |
17 |
36,500,697 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6993:H2-T3
|
UTSW |
17 |
36,497,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7336:H2-T3
|
UTSW |
17 |
36,498,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:H2-T3
|
UTSW |
17 |
36,498,275 (GRCm39) |
missense |
not run |
|
|
R8143:H2-T3
|
UTSW |
17 |
36,498,384 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8901:H2-T3
|
UTSW |
17 |
36,498,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9697:H2-T3
|
UTSW |
17 |
36,500,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF009:H2-T3
|
UTSW |
17 |
36,500,294 (GRCm39) |
intron |
probably benign |
|
|
Z1176:H2-T3
|
UTSW |
17 |
36,497,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:H2-T3
|
UTSW |
17 |
36,497,472 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGGAGTTGTCTGCAGCC -3'
(R):5'- TGCAAGCCACCTAATCATGGG -3'
Sequencing Primer
(F):5'- TTGTCTGCAGCCACGCAC -3'
(R):5'- CCACCTAATCATGGGGTGCAAAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation