Incidental Mutation 'R2907:H2-T3'
| ID |
261713 |
| 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 |
040494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36498347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 233
(R233C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025312]
[ENSMUST00000095300]
[ENSMUST00000097329]
[ENSMUST00000102675]
[ENSMUST00000172663]
[ENSMUST00000173133]
[ENSMUST00000174101]
[ENSMUST00000173629]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025312
AA Change: R189C
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: R189C
| 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 |
possibly damaging
Transcript: ENSMUST00000102675
AA Change: R233C
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: R233C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
5.1e-85 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173133
AA Change: R233C
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: R233C
| 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: ENSMUST00000174101
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,565,559 (GRCm39) |
E385G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
| Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,580 (GRCm39) |
P452L |
possibly damaging |
Het |
| Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
| Asns |
A |
G |
6: 7,675,506 (GRCm39) |
S499P |
probably benign |
Het |
| Aspn |
G |
T |
13: 49,705,374 (GRCm39) |
V79F |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,563,093 (GRCm39) |
I844T |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,786,869 (GRCm39) |
R641W |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,874,449 (GRCm39) |
I612F |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
| Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
| Igfbp4 |
A |
G |
11: 98,932,377 (GRCm39) |
|
probably benign |
Het |
| Igkv16-104 |
T |
C |
6: 68,402,911 (GRCm39) |
I68T |
probably damaging |
Het |
| Kansl1 |
T |
A |
11: 104,315,286 (GRCm39) |
S251C |
possibly damaging |
Het |
| Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
| Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,257,580 (GRCm39) |
V242A |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,980,613 (GRCm38) |
Q990K |
possibly damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,112,354 (GRCm39) |
V605E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,611 (GRCm39) |
P268S |
possibly damaging |
Het |
| Or5an1b |
T |
C |
19: 12,300,032 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 13,004,129 (GRCm39) |
|
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,697 (GRCm39) |
S803T |
probably benign |
Het |
| Pax9 |
C |
T |
12: 56,756,529 (GRCm39) |
T289I |
probably benign |
Het |
| Pcdha5 |
A |
C |
18: 37,093,868 (GRCm39) |
I126L |
possibly damaging |
Het |
| Psmd4 |
G |
T |
3: 94,941,273 (GRCm39) |
A55E |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
| Sdr42e1 |
G |
A |
8: 118,389,511 (GRCm39) |
L377F |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,234,512 (GRCm39) |
|
probably benign |
Het |
| Uba3 |
T |
C |
6: 97,180,514 (GRCm39) |
E21G |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,143,219 (GRCm39) |
N344D |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,818,231 (GRCm39) |
I587V |
probably benign |
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 |
|
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 |
|
R6956:H2-T3
|
UTSW |
17 |
36,500,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGAGGGTCTTCAGAAGGCTC -3'
(R):5'- GGAAATTTGACCCTTGTTCCAGTC -3'
Sequencing Primer
(F):5'- AAGGCTCCAGCTTTCCCTGAC -3'
(R):5'- AGTCATTTCCTTCCCAGGTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation