Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Tsku'

318915

Institutional Source

Beutler Lab

Gene Symbol

Tsku

Ensembl Gene

ENSMUSG00000049580

Gene Name

tsukushi, small leucine rich proteoglycan

Synonyms

9530051K01Rik, Lrrc54

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98350668-98361328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98352998 bp (GRCm38)

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

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
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in Tsku

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0034:Tsku	UTSW	7	98352663	missense	possibly damaging	0.70
R0034:Tsku	UTSW	7	98352663	missense	possibly damaging	0.70
R1560:Tsku	UTSW	7	98352944	missense	probably damaging	1.00
R1745:Tsku	UTSW	7	98352179	missense	possibly damaging	0.80
R1994:Tsku	UTSW	7	98352146	missense	probably damaging	1.00
R2899:Tsku	UTSW	7	98352917	missense	probably damaging	1.00
R3429:Tsku	UTSW	7	98352539	missense	probably damaging	1.00
R3430:Tsku	UTSW	7	98352539	missense	probably damaging	1.00
R4202:Tsku	UTSW	7	98352998	missense	probably damaging	0.99
R4205:Tsku	UTSW	7	98352998	missense	probably damaging	0.99
R4373:Tsku	UTSW	7	98352831	missense	probably benign	0.01
R5782:Tsku	UTSW	7	98352850	missense	probably damaging	0.99
R5818:Tsku	UTSW	7	98352098	missense	possibly damaging	0.93
R8972:Tsku	UTSW	7	98352497	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTGGTGAGCAGGTTGTAAC -3'
(R):5'- GGTGACAAGTTCCAGCTGTGTC -3'

Sequencing Primer
(F):5'- TGAGCAGGTTGTAACTGAGATCC -3'
(R):5'- CTGTCTCTTATAGGCCAGGATGC -3'

Posted On

2015-06-10