Incidental Mutation 'R4202:Tsku'
| ID |
318795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsku
|
| Ensembl Gene |
ENSMUSG00000049580 |
| Gene Name |
tsukushi, small leucine rich proteoglycan |
| Synonyms |
9530051K01Rik, Lrrc54 |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97999875-98010535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98002205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 42
(R42H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094161]
[ENSMUST00000164726]
[ENSMUST00000165257]
[ENSMUST00000165901]
[ENSMUST00000167405]
[ENSMUST00000179780]
[ENSMUST00000206414]
|
| AlphaFold |
Q8CBR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094161
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091713
Gene: ENSMUSG00000049580
AA Change: R42H
| 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 |
probably damaging
Transcript: ENSMUST00000164726
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130917
Gene: ENSMUSG00000049580
AA Change: R42H
| 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 |
probably damaging
Transcript: ENSMUST00000165257
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128431
Gene: ENSMUSG00000049580
AA Change: R42H
| 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 |
probably damaging
Transcript: ENSMUST00000165901
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127242
Gene: ENSMUSG00000049580
AA Change: R42H
| 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 |
probably damaging
Transcript: ENSMUST00000167405
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131789
Gene: ENSMUSG00000049580
AA Change: R42H
| 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 |
probably damaging
Transcript: ENSMUST00000179780
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137437
Gene: ENSMUSG00000049580
AA Change: R42H
| 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 |
probably damaging
Transcript: ENSMUST00000206414
AA Change: R42H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206770
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAGTGACTCCAGGTAGC -3'
(R):5'- GTCTCTTATAGGCCAGGATGC -3'
Sequencing Primer
(F):5'- TGACTCCAGGTAGCGCAGTC -3'
(R):5'- CCAGGATGCCAGTGTCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation