Incidental Mutation 'R2899:Tsku'
| ID |
261408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsku
|
| Ensembl Gene |
ENSMUSG00000049580 |
| Gene Name |
tsukushi, small leucine rich proteoglycan |
| Synonyms |
9530051K01Rik, Lrrc54 |
| MMRRC Submission |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97999875-98010535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98002124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 69
(N69S)
|
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091713
Gene: ENSMUSG00000049580
AA Change: N69S
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130917
Gene: ENSMUSG00000049580
AA Change: N69S
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128431
Gene: ENSMUSG00000049580
AA Change: N69S
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127242
Gene: ENSMUSG00000049580
AA Change: N69S
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131789
Gene: ENSMUSG00000049580
AA Change: N69S
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137437
Gene: ENSMUSG00000049580
AA Change: N69S
| 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: N69S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206770
|
| Meta Mutation Damage Score |
0.4806 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAAATCTCTGCCGGCAG -3'
(R):5'- TTTCCAGGTGTCACCATGCTG -3'
Sequencing Primer
(F):5'- GTGAGCAGGTTGTAACTG -3'
(R):5'- AGGTGTCACCATGCTGTGCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation