Incidental Mutation 'R1402:H2-T22'
| ID |
160418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T22
|
| Ensembl Gene |
ENSMUSG00000056116 |
| Gene Name |
histocompatibility 2, T region locus 22 |
| Synonyms |
H2-T17, H-2T17, H-2T22 |
| MMRRC Submission |
039464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R1402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36348020-36353634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36351161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 307
(I307N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058801]
[ENSMUST00000077960]
[ENSMUST00000080015]
[ENSMUST00000097331]
[ENSMUST00000173280]
|
| AlphaFold |
Q31615 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058801
|
| SMART Domains |
Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
5.8e-47 |
PFAM |
|
IGc1
|
210 |
281 |
2.06e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077960
AA Change: I307N
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: I307N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
4e-47 |
PFAM |
|
IGc1
|
210 |
281 |
2.06e-23 |
SMART |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080015
AA Change: I307N
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: I307N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
7.3e-47 |
PFAM |
|
IGc1
|
210 |
281 |
2.06e-23 |
SMART |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097331
|
| SMART Domains |
Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173900
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 96.3%
- 10x: 80.0%
- 20x: 46.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
| Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,073,245 (GRCm39) |
S244P |
probably damaging |
Het |
| Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,863,477 (GRCm39) |
T196I |
probably damaging |
Het |
| Trappc13 |
A |
G |
13: 104,286,624 (GRCm39) |
V211A |
probably damaging |
Het |
| Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,992,465 (GRCm39) |
E459K |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,618 (GRCm39) |
H223N |
probably damaging |
Het |
|
| Other mutations in H2-T22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:H2-T22
|
APN |
17 |
36,352,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02978:H2-T22
|
APN |
17 |
36,352,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0078:H2-T22
|
UTSW |
17 |
36,351,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0448:H2-T22
|
UTSW |
17 |
36,353,278 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1402:H2-T22
|
UTSW |
17 |
36,351,161 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1592:H2-T22
|
UTSW |
17 |
36,352,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1830:H2-T22
|
UTSW |
17 |
36,352,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2105:H2-T22
|
UTSW |
17 |
36,351,409 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2116:H2-T22
|
UTSW |
17 |
36,349,949 (GRCm39) |
splice site |
probably null |
|
|
R2964:H2-T22
|
UTSW |
17 |
36,351,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:H2-T22
|
UTSW |
17 |
36,351,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3425:H2-T22
|
UTSW |
17 |
36,352,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:H2-T22
|
UTSW |
17 |
36,351,195 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4614:H2-T22
|
UTSW |
17 |
36,351,429 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4691:H2-T22
|
UTSW |
17 |
36,352,462 (GRCm39) |
frame shift |
probably null |
|
|
R4870:H2-T22
|
UTSW |
17 |
36,349,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4954:H2-T22
|
UTSW |
17 |
36,352,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:H2-T22
|
UTSW |
17 |
36,350,113 (GRCm39) |
nonsense |
probably null |
|
|
R5995:H2-T22
|
UTSW |
17 |
36,352,377 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7379:H2-T22
|
UTSW |
17 |
36,353,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7597:H2-T22
|
UTSW |
17 |
36,351,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:H2-T22
|
UTSW |
17 |
36,352,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8861:H2-T22
|
UTSW |
17 |
36,353,290 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9661:H2-T22
|
UTSW |
17 |
36,353,371 (GRCm39) |
start gained |
probably benign |
|
|
Z1088:H2-T22
|
UTSW |
17 |
36,352,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGACTGTGGATGCTACATCCTG -3'
(R):5'- AGCACGATGCCTCATCCTTTCAAC -3'
Sequencing Primer
(F):5'- GTGGATGCTACATCCTGTTACCTAAG -3'
(R):5'- ACATGCCATGTGTACCATGAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation