Mutagenetix > Incidental Mutation

Incidental Mutation 'R2902:Clvs1'

261493

Institutional Source

Beutler Lab

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 #

R2902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9269293-9451691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9281972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 139 (K139E)

Ref Sequence

ENSEMBL: ENSMUSP00000103985 (fasta)

Gene Model

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

AlphaFold

Q9D4C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000038841
AA Change: K139E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035649
Gene: ENSMUSG00000041216
AA Change: K139E

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 damaging
Transcript: ENSMUST00000108348
AA Change: K139E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103985
Gene: ENSMUSG00000041216
AA Change: K139E

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

Meta Mutation Damage Score

0.1941

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	G	A	4: 58,809,691 (GRCm38)	T1592M	probably benign	Het
Apobec2	T	C	17: 48,423,381 (GRCm38)	T86A	probably benign	Het
C1qtnf1	A	G	11: 118,448,104 (GRCm38)		probably null	Het
Cacng3	A	G	7: 122,754,527 (GRCm38)	K78R	possibly damaging	Het
Cep68	A	G	11: 20,240,187 (GRCm38)	L275P	probably damaging	Het
Chrm4	A	G	2: 91,927,957 (GRCm38)	K237E	probably benign	Het
Col25a1	A	T	3: 130,546,391 (GRCm38)	E351V	probably damaging	Het
Cyp4f18	A	T	8: 72,002,411 (GRCm38)	I107N	probably damaging	Het
Dagla	A	G	19: 10,248,103 (GRCm38)	L899P	probably damaging	Het
Dnah3	T	C	7: 119,951,499 (GRCm38)	K3199R	possibly damaging	Het
Emc10	G	A	7: 44,493,192 (GRCm38)	R109W	probably damaging	Het
Fam186a	G	T	15: 99,945,168 (GRCm38)	T1065K	possibly damaging	Het
Ferd3l	T	G	12: 33,928,953 (GRCm38)	M155R	probably damaging	Het
Fgd4	A	G	16: 16,425,865 (GRCm38)	Y602H	probably damaging	Het
Gldn	T	C	9: 54,335,814 (GRCm38)	L360P	possibly damaging	Het
Gm9920	C	A	15: 55,112,471 (GRCm38)		probably benign	Het
Inhbc	T	C	10: 127,357,752 (GRCm38)	T132A	probably benign	Het
Krt23	T	C	11: 99,483,971 (GRCm38)	D260G	probably damaging	Het
Lrch3	G	A	16: 32,950,396 (GRCm38)	A123T	probably damaging	Het
Mark2	A	T	19: 7,283,448 (GRCm38)	S408T	probably benign	Het
Nme8	A	T	13: 19,675,664 (GRCm38)	V23E	probably benign	Het
Nod2	A	T	8: 88,675,463 (GRCm38)	I912F	probably damaging	Het
Nxpe4	A	G	9: 48,394,146 (GRCm38)	I279V	probably benign	Het
Oas3	A	G	5: 120,758,917 (GRCm38)	F880L	probably damaging	Het
Olfr251	T	A	9: 38,378,041 (GRCm38)	N53K	possibly damaging	Het
Olfr804	A	G	10: 129,705,451 (GRCm38)	H191R	probably benign	Het
Olfr993	C	T	2: 85,414,052 (GRCm38)	V276M	possibly damaging	Het
Pcnt	C	T	10: 76,375,230 (GRCm38)	R2371H	probably damaging	Het
Prex2	A	T	1: 11,208,614 (GRCm38)	N1389I	possibly damaging	Het
Prf1	A	T	10: 61,300,319 (GRCm38)	N125Y	probably damaging	Het
Prr12	C	T	7: 45,047,612 (GRCm38)	G960R	unknown	Het
Rap1b	A	G	10: 117,824,602 (GRCm38)	S17P	probably damaging	Het
Rhot2	G	T	17: 25,843,976 (GRCm38)	Q63K	probably damaging	Het
Rnpepl1	C	T	1: 92,916,380 (GRCm38)	L278F	probably damaging	Het
Slco1a6	A	G	6: 142,096,320 (GRCm38)	L510P	probably damaging	Het
Ssc4d	G	A	5: 135,964,663 (GRCm38)	P113L	possibly damaging	Het
Sv2a	A	T	3: 96,193,756 (GRCm38)	N690I	possibly damaging	Het
Tbc1d24	T	C	17: 24,207,246 (GRCm38)	Y452C	probably benign	Het
Tmem132d	G	T	5: 127,783,768 (GRCm38)	H1096Q	probably benign	Het
Tmem82	C	A	4: 141,616,464 (GRCm38)	G165V	probably benign	Het
Tpo	T	A	12: 30,119,449 (GRCm38)	T96S	possibly damaging	Het
Triobp	A	G	15: 78,973,418 (GRCm38)	E1073G	possibly damaging	Het
Tspoap1	C	T	11: 87,777,975 (GRCm38)	P1358L	probably benign	Het
Usp47	A	G	7: 112,093,451 (GRCm38)	Y1020C	probably damaging	Het
Washc4	C	A	10: 83,554,763 (GRCm38)	Y153*	probably null	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
IGL01293:Clvs1	APN	4	9,281,559 (GRCm38)	start codon destroyed	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGGAAGTTTCACCAAGC -3'
(R):5'- AAAGTCCAGTGCAACTCAGAG -3'

Sequencing Primer
(F):5'- GGAAGTTTCACCAAGCCGATGC -3'
(R):5'- GTGCAACTCAGAGGCTATAGTTCTC -3'

Posted On

2015-01-23