Incidental Mutation 'R2372:Skint1'
| ID |
248156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint1
|
| Ensembl Gene |
ENSMUSG00000089773 |
| Gene Name |
selection and upkeep of intraepithelial T cells 1 |
| Synonyms |
|
| MMRRC Submission |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111863466-111886735 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111876348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 90
(Y90N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117379]
[ENSMUST00000161389]
[ENSMUST00000162158]
[ENSMUST00000162885]
|
| AlphaFold |
A7TZE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117379
AA Change: Y90N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773
AA Change: Y90N
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
44 |
125 |
1.88e-8 |
SMART |
|
Pfam:C2-set_2
|
142 |
228 |
2.5e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161389
AA Change: Y90N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: Y90N
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
44 |
125 |
1.88e-8 |
SMART |
|
Pfam:C2-set_2
|
142 |
228 |
3.1e-6 |
PFAM |
|
transmembrane domain
|
248 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162158
AA Change: Y90N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: Y90N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IGv
|
44 |
125 |
1.88e-8 |
SMART |
|
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
|
transmembrane domain
|
282 |
304 |
N/A |
INTRINSIC |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162885
AA Change: Y90N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
AA Change: Y90N
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
44 |
125 |
1.88e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a point mutation allele exhibit impaired T cell differentiation with reduced Vgamma5+Vdelta1+ T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Skint1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Skint1
|
APN |
4 |
111,878,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01890:Skint1
|
APN |
4 |
111,867,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02020:Skint1
|
APN |
4 |
111,882,724 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02045:Skint1
|
APN |
4 |
111,882,727 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0421:Skint1
|
UTSW |
4 |
111,876,211 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0544:Skint1
|
UTSW |
4 |
111,878,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Skint1
|
UTSW |
4 |
111,886,596 (GRCm39) |
splice site |
probably benign |
|
|
R0881:Skint1
|
UTSW |
4 |
111,886,054 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0973:Skint1
|
UTSW |
4 |
111,885,412 (GRCm39) |
splice site |
probably benign |
|
|
R1036:Skint1
|
UTSW |
4 |
111,876,493 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1469:Skint1
|
UTSW |
4 |
111,882,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1469:Skint1
|
UTSW |
4 |
111,882,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Skint1
|
UTSW |
4 |
111,878,653 (GRCm39) |
splice site |
probably null |
|
|
R2063:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2064:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2065:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2066:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2067:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2518:Skint1
|
UTSW |
4 |
111,882,678 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2971:Skint1
|
UTSW |
4 |
111,878,527 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4656:Skint1
|
UTSW |
4 |
111,878,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Skint1
|
UTSW |
4 |
111,885,530 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5083:Skint1
|
UTSW |
4 |
111,886,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5450:Skint1
|
UTSW |
4 |
111,882,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5583:Skint1
|
UTSW |
4 |
111,876,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Skint1
|
UTSW |
4 |
111,882,699 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5877:Skint1
|
UTSW |
4 |
111,878,720 (GRCm39) |
nonsense |
probably null |
|
|
R5950:Skint1
|
UTSW |
4 |
111,876,532 (GRCm39) |
missense |
probably benign |
|
|
R5974:Skint1
|
UTSW |
4 |
111,876,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6216:Skint1
|
UTSW |
4 |
111,878,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6494:Skint1
|
UTSW |
4 |
111,867,909 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7348:Skint1
|
UTSW |
4 |
111,878,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Skint1
|
UTSW |
4 |
111,876,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Skint1
|
UTSW |
4 |
111,876,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Skint1
|
UTSW |
4 |
111,867,921 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9417:Skint1
|
UTSW |
4 |
111,878,509 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCCATTTATAGTGAACGGC -3'
(R):5'- ATCTATCTTTCAGACCCAGAAGAG -3'
Sequencing Primer
(F):5'- GCCATTTATAGTGAACGGCTTAGAG -3'
(R):5'- GTTGATTCATAGAAACCTCGGAAAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation