Incidental Mutation 'R7200:H2-T13'
| ID |
560261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T13
|
| Ensembl Gene |
|
| Gene Name |
histocompatibility 2, T region locus 13 |
| Synonyms |
blastocyst MHC, H-2T13, H2-Bl |
| MMRRC Submission |
045278-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R7200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36391007-36395115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36391938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 45
(I45N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173080]
[ENSMUST00000183560]
[ENSMUST00000183999]
[ENSMUST00000184502]
[ENSMUST00000185087]
[ENSMUST00000185167]
[ENSMUST00000192532]
[ENSMUST00000194244]
[ENSMUST00000195833]
[ENSMUST00000195838]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173080
AA Change: I319N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: I319N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
1.6e-88 |
PFAM |
|
IGc1
|
219 |
289 |
6.29e-19 |
SMART |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183560
AA Change: I45N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406
AA Change: I45N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183999
AA Change: I59N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: I59N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
14 |
N/A |
INTRINSIC |
|
SCOP:d1dr9a2
|
21 |
36 |
4e-5 |
SMART |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184502
AA Change: I227N
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: I227N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
6.8e-89 |
PFAM |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185087
|
| SMART Domains |
Protein: ENSMUSP00000139166
Gene: ENSMUSG00000073406
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
113 |
5.2e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185167
|
| SMART Domains |
Protein: ENSMUSP00000139373
Gene: ENSMUSG00000073406
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: I309N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
12 |
190 |
1.4e-88 |
PFAM |
|
IGc1
|
209 |
279 |
6.29e-19 |
SMART |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194244
AA Change: I227N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: I227N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
118 |
2.9e-43 |
PFAM |
|
IGc1
|
127 |
197 |
6.29e-19 |
SMART |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195833
AA Change: I216N
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: I216N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
12 |
107 |
1.8e-37 |
PFAM |
|
IGc1
|
116 |
186 |
6.29e-19 |
SMART |
|
transmembrane domain
|
202 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195838
AA Change: I308N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: I308N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
12 |
189 |
1e-82 |
PFAM |
|
IGc1
|
208 |
278 |
6.29e-19 |
SMART |
|
transmembrane domain
|
294 |
316 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
G |
11: 65,043,836 (GRCm39) |
M75T |
unknown |
Het |
| 2700049A03Rik |
T |
G |
12: 71,187,680 (GRCm39) |
N105K |
probably damaging |
Het |
| Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,403,170 (GRCm39) |
T307S |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,131,051 (GRCm39) |
Y248H |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,580,406 (GRCm39) |
T84A |
probably benign |
Het |
| Asb3 |
C |
A |
11: 30,948,348 (GRCm39) |
S8* |
probably null |
Het |
| AU041133 |
G |
A |
10: 81,986,935 (GRCm39) |
G196D |
possibly damaging |
Het |
| B4galt7 |
T |
C |
13: 55,756,155 (GRCm39) |
C214R |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,254,921 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,254,299 (GRCm39) |
L80P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,949,448 (GRCm39) |
P729L |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,845,557 (GRCm39) |
C133R |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,828,393 (GRCm39) |
L178P |
probably damaging |
Het |
| Dock5 |
C |
A |
14: 68,009,151 (GRCm39) |
E1448* |
probably null |
Het |
| Elavl1 |
A |
G |
8: 4,361,767 (GRCm39) |
S2P |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,980,033 (GRCm39) |
H247R |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,222 (GRCm39) |
I309N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,066,165 (GRCm39) |
F298L |
possibly damaging |
Het |
| Gpc6 |
G |
A |
14: 118,202,268 (GRCm39) |
V493I |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,350,315 (GRCm39) |
E78K |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,903 (GRCm39) |
F56L |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,943,905 (GRCm39) |
F56L |
probably damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,990 (GRCm39) |
S411T |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,019 (GRCm39) |
M382T |
|
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,477 (GRCm38) |
C202S |
probably damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,596 (GRCm39) |
T139A |
probably benign |
Het |
| Pacs1 |
A |
C |
19: 5,206,441 (GRCm39) |
I248S |
possibly damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,906,810 (GRCm39) |
S631P |
|
Het |
| Rars2 |
A |
T |
4: 34,645,747 (GRCm39) |
K221N |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,583,002 (GRCm39) |
S388P |
possibly damaging |
Het |
| Rft1 |
G |
A |
14: 30,404,814 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
A |
G |
1: 153,660,945 (GRCm39) |
V345A |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,137,620 (GRCm39) |
S320R |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,301,451 (GRCm39) |
Y722F |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,264,285 (GRCm39) |
E194G |
possibly damaging |
Het |
| Spata17 |
G |
A |
1: 186,844,700 (GRCm39) |
R300C |
probably benign |
Het |
| Tacc1 |
G |
A |
8: 25,731,656 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
T |
G |
12: 101,655,314 (GRCm39) |
I214L |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,192,953 (GRCm39) |
S494G |
probably benign |
Het |
| Tmco5b |
A |
T |
2: 113,121,722 (GRCm39) |
I179L |
probably damaging |
Het |
| Triobp |
AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA |
AGGGACAA |
15: 78,851,042 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,130,412 (GRCm39) |
T173A |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,444,259 (GRCm39) |
G458R |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,106,570 (GRCm39) |
|
probably null |
Het |
| Wfdc15b |
T |
A |
2: 164,057,037 (GRCm39) |
E80D |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,812,376 (GRCm39) |
D423E |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,597,415 (GRCm39) |
C430S |
possibly damaging |
Het |
|
| Other mutations in H2-T13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0396:H2-T13
|
UTSW |
17 |
36,394,614 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0412:H2-T13
|
UTSW |
17 |
36,392,413 (GRCm39) |
splice site |
probably benign |
|
|
R0924:H2-T13
|
UTSW |
17 |
36,394,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:H2-T13
|
UTSW |
17 |
36,391,983 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1211:H2-T13
|
UTSW |
17 |
36,391,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:H2-T13
|
UTSW |
17 |
36,394,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:H2-T13
|
UTSW |
17 |
36,391,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1992:H2-T13
|
UTSW |
17 |
36,391,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5538:H2-T13
|
UTSW |
17 |
36,392,178 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6021:H2-T13
|
UTSW |
17 |
36,392,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:H2-T13
|
UTSW |
17 |
36,394,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7711:H2-T13
|
UTSW |
17 |
36,394,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8479:H2-T13
|
UTSW |
17 |
36,395,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:H2-T13
|
UTSW |
17 |
36,392,382 (GRCm39) |
missense |
unknown |
|
|
R9193:H2-T13
|
UTSW |
17 |
36,391,956 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9375:H2-T13
|
UTSW |
17 |
36,391,993 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9582:H2-T13
|
UTSW |
17 |
36,392,375 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGAACTGACAGAGGAC -3'
(R):5'- ATGTGTACCATGAGGGGCTG -3'
Sequencing Primer
(F):5'- CCCAGGTGGAGACAGTAGC -3'
(R):5'- AGTGCAGAGCTGGGGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation