Mutagenetix > Incidental Mutation

Incidental Mutation 'R2434:Capsl'

250537

Institutional Source

Beutler Lab

Gene Symbol

Capsl

Ensembl Gene

ENSMUSG00000039676

Gene Name

calcyphosine-like

Synonyms

1700028N11Rik

MMRRC Submission

040395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R2434 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9436136-9466125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9462795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 145 (H145L)

Ref Sequence

ENSEMBL: ENSMUSP00000035663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042360] [ENSMUST00000226688]

AlphaFold

Q6P8Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042360
AA Change: H145L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035663
Gene: ENSMUSG00000039676
AA Change: H145L

Domain	Start	End	E-Value	Type
EFh	43	71	7.28e-1	SMART
EFh	79	107	2.09e-4	SMART
EFh	115	143	3.3e-2	SMART
EFh	158	188	2.31e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226688

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	G	5: 31,051,357 (GRCm39)	Q493R	probably damaging	Het
Ank3	T	C	10: 69,837,948 (GRCm39)	V785A	probably damaging	Het
Carns1	A	C	19: 4,215,448 (GRCm39)	C911W	probably damaging	Het
Celsr2	A	C	3: 108,311,795 (GRCm39)	F1351V	probably damaging	Het
Cpne8	T	C	15: 90,393,714 (GRCm39)	I432V	probably benign	Het
Cpxm1	A	T	2: 130,236,004 (GRCm39)	I386N	probably damaging	Het
E2f5	T	A	3: 14,644,074 (GRCm39)	D65E	probably damaging	Het
Eif3a	T	C	19: 60,752,488 (GRCm39)		probably benign	Het
Fcrl2	A	G	3: 87,164,005 (GRCm39)	Y375H	probably damaging	Het
Fip1l1	C	A	5: 74,707,485 (GRCm39)	T196K	possibly damaging	Het
Fmo6	A	T	1: 162,744,439 (GRCm39)	N484K	probably benign	Het
Foxred1	G	T	9: 35,116,954 (GRCm39)	D345E	probably damaging	Het
Gbe1	T	A	16: 70,238,100 (GRCm39)	N295K	probably damaging	Het
Gipc2	T	A	3: 151,843,317 (GRCm39)	I107L	probably benign	Het
Kcnn1	GTCCTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTCCTC	8: 71,307,810 (GRCm39)		probably benign	Het
Lgr5	T	A	10: 115,423,311 (GRCm39)	I30L	probably benign	Het
Nbea	A	T	3: 55,554,881 (GRCm39)	V2589E	possibly damaging	Het
Ncam2	A	T	16: 81,392,113 (GRCm39)	N699I	probably benign	Het
Nlrp1b	T	C	11: 71,047,552 (GRCm39)		probably null	Het
Or11l3	A	G	11: 58,515,937 (GRCm39)	Y312H	possibly damaging	Het
Rnasel	T	C	1: 153,630,396 (GRCm39)	V304A	probably damaging	Het
Serinc4	C	T	2: 121,286,186 (GRCm39)	R134H	probably benign	Het
Sim1	T	A	10: 50,784,054 (GRCm39)	Y103N	probably damaging	Het
Slc47a1	A	T	11: 61,258,548 (GRCm39)		probably null	Het
Slc6a6	T	A	6: 91,712,193 (GRCm39)	S241T	probably benign	Het
Son	G	T	16: 91,451,575 (GRCm39)	K107N	probably damaging	Het
St3gal6	T	C	16: 58,291,015 (GRCm39)	T329A	probably damaging	Het
Stab2	G	A	10: 86,805,183 (GRCm39)	P265L	possibly damaging	Het
Tmem199	G	A	11: 78,400,570 (GRCm39)	T119I	probably damaging	Het
Ttc14	A	G	3: 33,855,227 (GRCm39)	D125G	probably benign	Het
Vmn1r205	T	A	13: 22,776,524 (GRCm39)	M193L	probably benign	Het
Vmn2r-ps158	A	G	7: 42,696,881 (GRCm39)	Y646C	probably damaging	Het

Other mutations in Capsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0492:Capsl	UTSW	15	9,461,930 (GRCm39)	splice site	probably benign
R1187:Capsl	UTSW	15	9,457,807 (GRCm39)	missense	probably damaging	1.00
R1868:Capsl	UTSW	15	9,461,916 (GRCm39)	nonsense	probably null
R2311:Capsl	UTSW	15	9,462,689 (GRCm39)	nonsense	probably null
R4798:Capsl	UTSW	15	9,461,828 (GRCm39)	missense	probably benign
R4887:Capsl	UTSW	15	9,457,858 (GRCm39)	missense	possibly damaging	0.87
R5306:Capsl	UTSW	15	9,457,876 (GRCm39)	missense	probably benign	0.00
R6002:Capsl	UTSW	15	9,461,874 (GRCm39)	missense	probably damaging	0.97
R6156:Capsl	UTSW	15	9,465,920 (GRCm39)	missense	probably damaging	1.00
R6321:Capsl	UTSW	15	9,461,855 (GRCm39)	missense	probably damaging	1.00
R7316:Capsl	UTSW	15	9,461,888 (GRCm39)	missense	probably benign	0.15
R7767:Capsl	UTSW	15	9,462,770 (GRCm39)	missense	probably damaging	0.99
R9108:Capsl	UTSW	15	9,465,910 (GRCm39)	missense	possibly damaging	0.87
X0063:Capsl	UTSW	15	9,462,792 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- GCACATGCATTTCTCCATGG -3'
(R):5'- GGCCCCAAAGACATGTTTTCTTC -3'

Sequencing Primer
(F):5'- ACATGCATTTCTCCATGGGTTTTTG -3'
(R):5'- CAACATGTTGAGCTTTGTAAGGCTC -3'

Posted On

2014-11-12