Incidental Mutation 'R1592:H2-T22'
| ID |
175694 |
| 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 |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36348020-36353634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36352469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 152
(N152S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058801]
[ENSMUST00000077960]
[ENSMUST00000080015]
[ENSMUST00000097331]
[ENSMUST00000173280]
|
| AlphaFold |
Q31615 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058801
AA Change: N152S
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
AA Change: N152S
| 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: N152S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: N152S
| 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: N152S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: N152S
| 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
|
| Meta Mutation Damage Score |
0.1008 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
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 |
|
R1402:H2-T22
|
UTSW |
17 |
36,351,161 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- GTGCTCAACTGTGAGCTGTACTCC -3'
(R):5'- TTCTACTCGTGTTGCTGCGACAGG -3'
Sequencing Primer
(F):5'- gtgagctgtactccaagtcc -3'
(R):5'- TTGCTGCGACAGGACTGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation