Incidental Mutation 'R1560:Tsku'
| ID |
170551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsku
|
| Ensembl Gene |
ENSMUSG00000049580 |
| Gene Name |
tsukushi, small leucine rich proteoglycan |
| Synonyms |
9530051K01Rik, Lrrc54 |
| MMRRC Submission |
039599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97999875-98010535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98002151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 60
(D60V)
|
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091713
Gene: ENSMUSG00000049580
AA Change: D60V
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130917
Gene: ENSMUSG00000049580
AA Change: D60V
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128431
Gene: ENSMUSG00000049580
AA Change: D60V
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127242
Gene: ENSMUSG00000049580
AA Change: D60V
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131789
Gene: ENSMUSG00000049580
AA Change: D60V
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137437
Gene: ENSMUSG00000049580
AA Change: D60V
| 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: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206770
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,275,466 (GRCm39) |
T390A |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,963 (GRCm39) |
C596S |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,702,113 (GRCm39) |
Y89* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,296,850 (GRCm39) |
R18* |
probably null |
Het |
| Cacng2 |
A |
G |
15: 77,897,518 (GRCm39) |
F97S |
probably benign |
Het |
| Calu |
A |
G |
6: 29,361,657 (GRCm39) |
D107G |
probably benign |
Het |
| Capns2 |
G |
A |
8: 93,628,771 (GRCm39) |
R220Q |
probably damaging |
Het |
| Catsperb |
C |
T |
12: 101,591,985 (GRCm39) |
T1105I |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,825 (GRCm39) |
N753D |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah5 |
G |
T |
15: 28,420,149 (GRCm39) |
V3816F |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,771,903 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,818,972 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
T |
A |
10: 25,371,334 (GRCm39) |
|
probably null |
Het |
| Fetub |
T |
C |
16: 22,758,117 (GRCm39) |
V300A |
probably benign |
Het |
| Gabrb3 |
A |
T |
7: 57,466,043 (GRCm39) |
M308L |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,648,566 (GRCm39) |
D546V |
possibly damaging |
Het |
| Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,125 (GRCm39) |
K742E |
probably damaging |
Het |
| Hmbs |
T |
C |
9: 44,248,657 (GRCm39) |
H72R |
possibly damaging |
Het |
| Krt16 |
A |
G |
11: 100,137,475 (GRCm39) |
I410T |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,021,710 (GRCm39) |
A971T |
probably benign |
Het |
| Lilra6 |
A |
C |
7: 3,914,407 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
A |
T |
4: 106,568,451 (GRCm39) |
M418K |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,044,484 (GRCm39) |
K640* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,394,533 (GRCm39) |
C711* |
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,155 (GRCm39) |
L47Q |
probably damaging |
Het |
| Or2ak5 |
A |
T |
11: 58,611,513 (GRCm39) |
Y120* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,550 (GRCm39) |
Y286C |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,289 (GRCm39) |
H307L |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,976,976 (GRCm39) |
T165A |
probably benign |
Het |
| Poldip3 |
G |
A |
15: 83,022,527 (GRCm39) |
R86W |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,143 (GRCm39) |
R1532S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,712,904 (GRCm39) |
L242* |
probably null |
Het |
| Spata45 |
T |
C |
1: 190,772,017 (GRCm39) |
S80P |
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,746 (GRCm39) |
V525A |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,543,809 (GRCm39) |
T887A |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,650,463 (GRCm39) |
T1571I |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,685 (GRCm39) |
Y44C |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,208 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,791,092 (GRCm39) |
P550L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,058,401 (GRCm39) |
D106G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,843,745 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,342,449 (GRCm39) |
W939* |
probably null |
Het |
| Zfp512b |
T |
C |
2: 181,230,472 (GRCm39) |
T473A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGTCAAGTGACTCCAGGTAGC -3'
(R):5'- GGTCCAACCCTTAACCGTACAGATG -3'
Sequencing Primer
(F):5'- ACTCCAGGTAGCGCAGTC -3'
(R):5'- ATGCCAGTGTCTGGTACACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation