Incidental Mutation 'R2964:H2-T22'
ID |
255988 |
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 |
040520-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R2964 (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 G
at 36351537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 231
(L231S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058801]
[ENSMUST00000077960]
[ENSMUST00000080015]
[ENSMUST00000097331]
[ENSMUST00000173280]
|
AlphaFold |
Q31615 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058801
AA Change: L231S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056041 Gene: ENSMUSG00000056116 AA Change: L231S
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 |
probably damaging
Transcript: ENSMUST00000077960
AA Change: L231S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077111 Gene: ENSMUSG00000056116 AA Change: L231S
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 |
probably damaging
Transcript: ENSMUST00000080015
AA Change: L231S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078927 Gene: ENSMUSG00000056116 AA Change: L231S
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
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 |
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 |
|
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'- TCAGGGTCTACAGAAGGCTC -3'
(R):5'- ATGAACACTGCTGAGTCCC -3'
Sequencing Primer
(F):5'- AAGGCTCCAGCTTTCCCTGAAC -3'
(R):5'- TGCTGAGTCCCCAGAAGAAAGC -3'
|
Posted On |
2014-12-29 |