Incidental Mutation 'R4205:Tsku'
ID |
318873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsku
|
Ensembl Gene |
ENSMUSG00000049580 |
Gene Name |
tsukushi, small leucine rich proteoglycan |
Synonyms |
9530051K01Rik, Lrrc54 |
MMRRC Submission |
041034-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R4205 (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: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (40/40) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
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 |
R4202: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'- GCTGGTGAGCAGGTTGTAAC -3'
(R):5'- CAAGTTCCAGCTGTGTCCCTAC -3'
Sequencing Primer
(F):5'- TGAGCAGGTTGTAACTGAGATCC -3'
(R):5'- CTGTCTCTTATAGGCCAGGATGC -3'
|
Posted On |
2015-06-10 |