Incidental Mutation 'R0034:Tsku'
| ID |
15325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsku
|
| Ensembl Gene |
ENSMUSG00000049580 |
| Gene Name |
tsukushi, small leucine rich proteoglycan |
| Synonyms |
9530051K01Rik, Lrrc54 |
| MMRRC Submission |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97999875-98010535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98001870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 154
(T154A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094161]
[ENSMUST00000164726]
[ENSMUST00000165257]
[ENSMUST00000165901]
[ENSMUST00000167405]
[ENSMUST00000179780]
[ENSMUST00000206414]
|
| AlphaFold |
Q8CBR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094161
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091713
Gene: ENSMUSG00000049580
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
63 |
3.24e0 |
SMART |
|
LRR
|
63 |
81 |
2.54e2 |
SMART |
|
LRR
|
84 |
107 |
7.38e1 |
SMART |
|
LRR_TYP
|
108 |
131 |
8.34e-3 |
SMART |
|
LRR
|
134 |
154 |
3.18e2 |
SMART |
|
LRR
|
203 |
228 |
2.76e1 |
SMART |
|
LRR
|
254 |
278 |
4.09e1 |
SMART |
|
LRR
|
279 |
302 |
1.71e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164726
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130917
Gene: ENSMUSG00000049580
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
63 |
3.24e0 |
SMART |
|
LRR
|
63 |
81 |
2.54e2 |
SMART |
|
LRR
|
84 |
107 |
7.38e1 |
SMART |
|
LRR_TYP
|
108 |
131 |
8.34e-3 |
SMART |
|
LRR
|
134 |
154 |
3.18e2 |
SMART |
|
LRR
|
203 |
228 |
2.76e1 |
SMART |
|
LRR
|
254 |
278 |
4.09e1 |
SMART |
|
LRR
|
279 |
302 |
1.71e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165257
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128431
Gene: ENSMUSG00000049580
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
63 |
3.24e0 |
SMART |
|
LRR
|
63 |
81 |
2.54e2 |
SMART |
|
LRR
|
84 |
107 |
7.38e1 |
SMART |
|
LRR_TYP
|
108 |
131 |
8.34e-3 |
SMART |
|
LRR
|
134 |
154 |
3.18e2 |
SMART |
|
LRR
|
203 |
228 |
2.76e1 |
SMART |
|
LRR
|
254 |
278 |
4.09e1 |
SMART |
|
LRR
|
279 |
302 |
1.71e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165901
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127242
Gene: ENSMUSG00000049580
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
63 |
3.24e0 |
SMART |
|
LRR
|
63 |
81 |
2.54e2 |
SMART |
|
LRR
|
84 |
107 |
7.38e1 |
SMART |
|
LRR_TYP
|
108 |
131 |
8.34e-3 |
SMART |
|
LRR
|
134 |
154 |
3.18e2 |
SMART |
|
LRR
|
203 |
228 |
2.76e1 |
SMART |
|
LRR
|
254 |
278 |
4.09e1 |
SMART |
|
LRR
|
279 |
302 |
1.71e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167405
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131789
Gene: ENSMUSG00000049580
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
63 |
3.24e0 |
SMART |
|
LRR
|
63 |
81 |
2.54e2 |
SMART |
|
LRR
|
84 |
107 |
7.38e1 |
SMART |
|
LRR_TYP
|
108 |
131 |
8.34e-3 |
SMART |
|
LRR
|
134 |
154 |
3.18e2 |
SMART |
|
LRR
|
203 |
228 |
2.76e1 |
SMART |
|
LRR
|
254 |
278 |
4.09e1 |
SMART |
|
LRR
|
279 |
302 |
1.71e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179780
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137437
Gene: ENSMUSG00000049580
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
63 |
3.24e0 |
SMART |
|
LRR
|
63 |
81 |
2.54e2 |
SMART |
|
LRR
|
84 |
107 |
7.38e1 |
SMART |
|
LRR_TYP
|
108 |
131 |
8.34e-3 |
SMART |
|
LRR
|
134 |
154 |
3.18e2 |
SMART |
|
LRR
|
203 |
228 |
2.76e1 |
SMART |
|
LRR
|
254 |
278 |
4.09e1 |
SMART |
|
LRR
|
279 |
302 |
1.71e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206414
AA Change: T154A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206770
|
| Meta Mutation Damage Score |
0.1498 |
| Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
| Validation Efficiency |
87% (59/68) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a failure of anterior commissure axons to cross the midline. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
C |
A |
6: 85,794,868 (GRCm39) |
A31S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,883 (GRCm39) |
I115V |
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,619,895 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
| Other mutations in Tsku |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0034:Tsku
|
UTSW |
7 |
98,001,870 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1560:Tsku
|
UTSW |
7 |
98,002,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:Tsku
|
UTSW |
7 |
98,001,386 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1994:Tsku
|
UTSW |
7 |
98,001,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2899:Tsku
|
UTSW |
7 |
98,002,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Tsku
|
UTSW |
7 |
98,001,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Tsku
|
UTSW |
7 |
98,001,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Tsku
|
UTSW |
7 |
98,002,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4205:Tsku
|
UTSW |
7 |
98,002,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4206:Tsku
|
UTSW |
7 |
98,002,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4373:Tsku
|
UTSW |
7 |
98,002,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5782:Tsku
|
UTSW |
7 |
98,002,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5818:Tsku
|
UTSW |
7 |
98,001,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8972:Tsku
|
UTSW |
7 |
98,001,704 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-17 |
Incidental Mutation