Mutagenetix > Incidental Mutation

Incidental Mutation 'R6002:Capsl'

478438

Institutional Source

Beutler Lab

Gene Symbol

Capsl

Ensembl Gene

ENSMUSG00000039676

Gene Name

calcyphosine-like

Synonyms

1700028N11Rik

MMRRC Submission

044181-MU

Accession Numbers

Essential gene?

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

Stock #

R6002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9436136-9466125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9461874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 90 (D90G)

Ref Sequence

ENSEMBL: ENSMUSP00000153958 (fasta)

Gene Model

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

AlphaFold

Q6P8Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042360
AA Change: D90G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035663
Gene: ENSMUSG00000039676
AA Change: D90G

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 damaging
Transcript: ENSMUST00000226688
AA Change: D90G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.6%
20x: 88.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,492,768 (GRCm39)		probably null	Het
Adam28	A	G	14: 68,879,511 (GRCm39)	L179P	probably benign	Het
Amer2	G	T	14: 60,616,231 (GRCm39)	G142V	possibly damaging	Het
Ap2a1	A	G	7: 44,553,819 (GRCm39)		probably null	Het
Arhgap32	A	G	9: 32,168,275 (GRCm39)	T753A	probably benign	Het
Cd96	A	T	16: 45,938,349 (GRCm39)	S39T	possibly damaging	Het
Cdx2	T	A	5: 147,240,044 (GRCm39)	T211S	probably damaging	Het
Chd9	A	G	8: 91,705,515 (GRCm39)	Y251C	probably damaging	Het
Chrna6	C	T	8: 27,896,774 (GRCm39)	V368I	probably benign	Het
Coro1a	G	T	7: 126,302,252 (GRCm39)	Q32K	probably benign	Het
Cps1	T	A	1: 67,211,914 (GRCm39)	V694E	possibly damaging	Het
Eif3h	A	G	15: 51,662,672 (GRCm39)	Y125H	probably benign	Het
Fbxw22	A	C	9: 109,210,750 (GRCm39)	Y420*	probably null	Het
Fgf21	T	C	7: 45,264,651 (GRCm39)	Y27C	probably benign	Het
Gm7356	A	G	17: 14,221,001 (GRCm39)	S343P	probably benign	Het
Hmcn2	A	G	2: 31,310,321 (GRCm39)	D3305G	probably damaging	Het
Ift70a1	T	C	2: 75,811,121 (GRCm39)	T321A	possibly damaging	Het
Kdm4c	T	A	4: 74,323,206 (GRCm39)	F1046Y	possibly damaging	Het
Klk1b27	T	A	7: 43,705,114 (GRCm39)	W94R	probably benign	Het
Nwd2	A	T	5: 63,962,143 (GRCm39)	M576L	probably benign	Het
Or13c7d	T	C	4: 43,770,063 (GRCm39)	H316R	probably benign	Het
Or4d2	A	T	11: 87,784,633 (GRCm39)	V39E	probably damaging	Het
Or5b122	T	C	19: 13,562,781 (GRCm39)		probably benign	Het
Or5p54	A	G	7: 107,554,376 (GRCm39)	H176R	probably damaging	Het
Pappa	T	A	4: 65,215,645 (GRCm39)	V1184D	probably damaging	Het
Pcyox1	T	A	6: 86,369,164 (GRCm39)	M152L	probably benign	Het
Pdha2	A	G	3: 140,917,457 (GRCm39)	V17A	probably benign	Het
Pi4k2b	A	T	5: 52,914,247 (GRCm39)	I328L	probably benign	Het
Ppp1r13l	T	C	7: 19,111,895 (GRCm39)	F814L	probably benign	Het
Prag1	A	T	8: 36,571,337 (GRCm39)	H640L	probably benign	Het
Prl5a1	T	C	13: 28,329,465 (GRCm39)	I48T	probably benign	Het
Rabgap1	A	G	2: 37,363,614 (GRCm39)	T132A	probably benign	Het
Sec31b	T	C	19: 44,524,203 (GRCm39)	I146V	probably benign	Het
Slc30a9	A	G	5: 67,499,460 (GRCm39)	Y306C	probably damaging	Het
Stat3	A	G	11: 100,794,569 (GRCm39)	S247P	probably benign	Het
Tbc1d1	C	A	5: 64,490,776 (GRCm39)	L747I	probably damaging	Het
Tbc1d24	A	T	17: 24,402,761 (GRCm39)	M1K	probably null	Het
Vezt	A	C	10: 93,836,336 (GRCm39)	V104G	probably damaging	Het
Zbtb41	A	G	1: 139,351,397 (GRCm39)	D170G	probably damaging	Het
Zswim2	C	A	2: 83,746,032 (GRCm39)	D469Y	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
R2434:Capsl	UTSW	15	9,462,795 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAAAGAGGAGTGTTTCGCTC -3'
(R):5'- ATTCTGCTACGCTGATTGGTC -3'

Sequencing Primer
(F):5'- AAGAGGAGTGTTTCGCTCTTTTTATC -3'
(R):5'- GGTCTGGTTCATTCTGCTACGC -3'

Posted On

2017-06-26