Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Tsku'

449162

Institutional Source

Beutler Lab

Gene Symbol

Tsku

Ensembl Gene

ENSMUSG00000049580

Gene Name

tsukushi, small leucine rich proteoglycan

Synonyms

9530051K01Rik, Lrrc54

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5818 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

97999875-98010535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98001305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 342 (D342G)

Ref Sequence

ENSEMBL: ENSMUSP00000146025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094161] [ENSMUST00000164726] [ENSMUST00000165257] [ENSMUST00000165901] [ENSMUST00000167405] [ENSMUST00000179780] [ENSMUST00000206414]

AlphaFold

Q8CBR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094161
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091713
Gene: ENSMUSG00000049580
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000164726
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130917
Gene: ENSMUSG00000049580
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000165257
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128431
Gene: ENSMUSG00000049580
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000165901
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127242
Gene: ENSMUSG00000049580
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000167405
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131789
Gene: ENSMUSG00000049580
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000179780
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137437
Gene: ENSMUSG00000049580
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000206414
AA Change: D342G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206770

Meta Mutation Damage Score

0.1059

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	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
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
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
R8972:Tsku	UTSW	7	98,001,704 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTGACAAACCGGCAGATTTTG -3'
(R):5'- GAACTAGACCTGTCAGGCTC -3'

Sequencing Primer
(F):5'- GACAAACCGGCAGATTTTGTTATTGG -3'
(R):5'- TGTCAGGCTCCAGCTTGG -3'

Posted On

2016-12-20