Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01293:Clvs1'

73000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clvs1

Ensembl Gene

ENSMUSG00000041216

Gene Name

clavesin 1

Synonyms

4933402J24Rik, Rlbp1l1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01293

Quality Score

Status

Chromosome

Chromosomal Location

9269293-9451691 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 9281559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000103985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038841] [ENSMUST00000108348]

AlphaFold

Q9D4C9

Predicted Effect

probably null
Transcript: ENSMUST00000038841
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
CRAL_TRIO_N	72	97	5.34e-6	SMART
SEC14	118	276	1.98e-36	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108348
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
CRAL_TRIO_N	72	97	5.34e-6	SMART
SEC14	118	276	1.98e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,463,656 (GRCm38)	V25A	probably benign	Het
Aagab	T	C	9: 63,636,469 (GRCm38)	V235A	probably benign	Het
Ash1l	T	C	3: 88,983,529 (GRCm38)	V905A	probably benign	Het
Atrx	A	G	X: 105,876,195 (GRCm38)	S641P	probably benign	Het
Bnc1	T	C	7: 81,974,489 (GRCm38)	E330G	probably damaging	Het
Cenpq	A	T	17: 40,933,176 (GRCm38)	S4T	possibly damaging	Het
Cul2	A	G	18: 3,419,426 (GRCm38)	K196E	probably damaging	Het
Cyp2d10	A	T	15: 82,403,009 (GRCm38)	V471E	possibly damaging	Het
Efhc2	T	A	X: 17,207,695 (GRCm38)	I469L	probably benign	Het
Fhod3	C	T	18: 25,020,652 (GRCm38)		probably benign	Het
Gm1968	A	G	16: 29,958,814 (GRCm38)		noncoding transcript	Het
Gm438	G	T	4: 144,777,589 (GRCm38)	H331N	probably benign	Het
Hpdl	T	A	4: 116,820,944 (GRCm38)	T107S	possibly damaging	Het
Il1rl1	G	A	1: 40,446,216 (GRCm38)	G276D	possibly damaging	Het
Irgq	A	G	7: 24,533,724 (GRCm38)	D330G	probably damaging	Het
Kdm4b	A	G	17: 56,353,019 (GRCm38)	D62G	probably benign	Het
Lama2	T	C	10: 27,231,636 (GRCm38)	T793A	probably benign	Het
Lrrk2	T	C	15: 91,726,137 (GRCm38)	F691L	probably benign	Het
Macf1	C	T	4: 123,471,311 (GRCm38)	G1654E	probably benign	Het
Mgat4c	A	T	10: 102,388,225 (GRCm38)	Y100F	probably benign	Het
Ncapg	A	G	5: 45,681,854 (GRCm38)	N532S	probably benign	Het
Nfkb1	T	C	3: 135,590,839 (GRCm38)	D782G	probably damaging	Het
Nthl1	G	T	17: 24,638,709 (GRCm38)	C294F	probably damaging	Het
Obp2b	A	G	2: 25,737,707 (GRCm38)	H45R	probably benign	Het
Olfm1	A	G	2: 28,214,703 (GRCm38)	E156G	probably damaging	Het
Olfr113	A	G	17: 37,575,417 (GRCm38)	I2T	probably benign	Het
Olfr847	C	A	9: 19,375,336 (GRCm38)	A182S	probably benign	Het
Otud6b	A	G	4: 14,822,682 (GRCm38)		probably benign	Het
Patl2	T	C	2: 122,123,810 (GRCm38)	T427A	probably benign	Het
Pdzd8	T	A	19: 59,299,786 (GRCm38)	R1061W	probably damaging	Het
Plk3	A	T	4: 117,132,997 (GRCm38)	L137*	probably null	Het
Rps6ka6	T	C	X: 111,450,362 (GRCm38)		probably benign	Het
Shank1	T	C	7: 44,354,236 (GRCm38)	V1784A	possibly damaging	Het
Smc1b	A	T	15: 85,131,898 (GRCm38)	S14T	probably damaging	Het
Sox4	C	A	13: 28,952,681 (GRCm38)	R114L	probably damaging	Het
Speg	C	T	1: 75,388,102 (GRCm38)	R221W	probably damaging	Het
Tram1l1	T	C	3: 124,322,139 (GRCm38)	V316A	probably benign	Het
Virma	G	T	4: 11,521,114 (GRCm38)	K840N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,412 (GRCm38)	S203T	probably damaging	Het
Wdr1	T	C	5: 38,529,543 (GRCm38)	T293A	probably benign	Het
Xirp2	C	T	2: 67,515,184 (GRCm38)	P2590S	possibly damaging	Het
Zfp106	T	C	2: 120,535,035 (GRCm38)	Y297C	possibly damaging	Het
Zfp128	A	G	7: 12,891,424 (GRCm38)	*573W	probably null	Het
Zfp575	G	A	7: 24,585,757 (GRCm38)	P153L	probably damaging	Het

Other mutations in Clvs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Clvs1	APN	4	9,281,939 (GRCm38)	missense	probably damaging	1.00
IGL01463:Clvs1	APN	4	9,429,818 (GRCm38)	missense	probably benign	0.27
IGL03031:Clvs1	APN	4	9,449,385 (GRCm38)	splice site	probably benign
R0472:Clvs1	UTSW	4	9,281,801 (GRCm38)	missense	probably damaging	1.00
R0496:Clvs1	UTSW	4	9,424,241 (GRCm38)	missense	probably damaging	1.00
R0848:Clvs1	UTSW	4	9,282,003 (GRCm38)	missense	possibly damaging	0.83
R1541:Clvs1	UTSW	4	9,281,814 (GRCm38)	missense	probably benign	0.00
R1992:Clvs1	UTSW	4	9,281,899 (GRCm38)	missense	probably benign	0.01
R2901:Clvs1	UTSW	4	9,281,972 (GRCm38)	missense	probably damaging	0.96
R2902:Clvs1	UTSW	4	9,281,972 (GRCm38)	missense	probably damaging	0.96
R4321:Clvs1	UTSW	4	9,282,029 (GRCm38)	intron	probably benign
R4934:Clvs1	UTSW	4	9,424,216 (GRCm38)	missense	possibly damaging	0.91
R4946:Clvs1	UTSW	4	9,281,831 (GRCm38)	nonsense	probably null
R4970:Clvs1	UTSW	4	9,350,857 (GRCm38)	intron	probably benign
R5187:Clvs1	UTSW	4	9,281,865 (GRCm38)	missense	possibly damaging	0.53
R5327:Clvs1	UTSW	4	9,424,261 (GRCm38)	missense	probably damaging	1.00
R5605:Clvs1	UTSW	4	9,281,751 (GRCm38)	missense	probably damaging	0.98
R5940:Clvs1	UTSW	4	9,449,443 (GRCm38)	missense	possibly damaging	0.96
R6818:Clvs1	UTSW	4	9,282,014 (GRCm38)	critical splice donor site	probably null
R6857:Clvs1	UTSW	4	9,449,433 (GRCm38)	missense	probably benign	0.00
R7692:Clvs1	UTSW	4	9,350,739 (GRCm38)	missense	probably benign	0.23
R8247:Clvs1	UTSW	4	9,281,885 (GRCm38)	missense	possibly damaging	0.77
R8791:Clvs1	UTSW	4	9,429,807 (GRCm38)	missense	probably damaging	1.00
R9500:Clvs1	UTSW	4	9,429,834 (GRCm38)	missense	probably damaging	0.98

Posted On

2013-10-07