Incidental Mutation 'RF032:H2-T10'
| ID |
604424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T10
|
| Ensembl Gene |
ENSMUSG00000079491 |
| Gene Name |
histocompatibility 2, T region locus 10 |
| Synonyms |
H-2T10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
RF032 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36426763-36432336 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TTTCCCACTGTA to T
at 36431186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046131]
[ENSMUST00000166442]
[ENSMUST00000173128]
[ENSMUST00000174382]
|
| AlphaFold |
F6T1I5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046131
|
| SMART Domains |
Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
26 |
204 |
2.3e-81 |
PFAM |
|
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166442
|
| SMART Domains |
Protein: ENSMUSP00000127602
Gene: ENSMUSG00000079491
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
6.2e-49 |
PFAM |
|
IGc1
|
210 |
281 |
4.18e-24 |
SMART |
|
transmembrane domain
|
294 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173128
|
| SMART Domains |
Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174382
|
| SMART Domains |
Protein: ENSMUSP00000133893
Gene: ENSMUSG00000079491
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
205 |
9.5e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,506,701 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,302 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,129,722 (GRCm39) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,560,341 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,602,083 (GRCm39) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,749,494 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,562,723 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,612,656 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,551,598 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 124,996,130 (GRCm39) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 156,503,919 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H2-T10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:H2-T10
|
APN |
17 |
36,431,602 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01946:H2-T10
|
APN |
17 |
36,431,608 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL03367:H2-T10
|
APN |
17 |
36,431,285 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03381:H2-T10
|
APN |
17 |
36,430,249 (GRCm39) |
nonsense |
probably null |
|
|
IGL03381:H2-T10
|
APN |
17 |
36,430,246 (GRCm39) |
missense |
probably benign |
|
|
FR4304:H2-T10
|
UTSW |
17 |
36,431,173 (GRCm39) |
frame shift |
probably null |
|
|
R0305:H2-T10
|
UTSW |
17 |
36,430,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:H2-T10
|
UTSW |
17 |
36,430,266 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1483:H2-T10
|
UTSW |
17 |
36,432,038 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2038:H2-T10
|
UTSW |
17 |
36,430,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2402:H2-T10
|
UTSW |
17 |
36,428,631 (GRCm39) |
splice site |
probably null |
|
|
R4755:H2-T10
|
UTSW |
17 |
36,429,837 (GRCm39) |
nonsense |
probably null |
|
|
R4957:H2-T10
|
UTSW |
17 |
36,428,308 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5162:H2-T10
|
UTSW |
17 |
36,429,843 (GRCm39) |
splice site |
probably null |
|
|
R5568:H2-T10
|
UTSW |
17 |
36,430,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6226:H2-T10
|
UTSW |
17 |
36,431,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6850:H2-T10
|
UTSW |
17 |
36,430,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:H2-T10
|
UTSW |
17 |
36,430,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7324:H2-T10
|
UTSW |
17 |
36,430,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:H2-T10
|
UTSW |
17 |
36,431,741 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7679:H2-T10
|
UTSW |
17 |
36,430,216 (GRCm39) |
missense |
not run |
|
|
R7767:H2-T10
|
UTSW |
17 |
36,428,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7901:H2-T10
|
UTSW |
17 |
36,431,143 (GRCm39) |
missense |
probably benign |
|
|
R8278:H2-T10
|
UTSW |
17 |
36,429,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8315:H2-T10
|
UTSW |
17 |
36,429,905 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9646:H2-T10
|
UTSW |
17 |
36,431,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF046:H2-T10
|
UTSW |
17 |
36,431,186 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCCTCTTGCCTCTCTG -3'
(R):5'- GGACTGACCACCAACTATGTC -3'
Sequencing Primer
(F):5'- GGATCTAAACCAGAACTCGTGCTTG -3'
(R):5'- GACCACCAACTATGTCCTTCCTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation