Mutagenetix > Incidental Mutation

Incidental Mutation 'R6219:Cirop'

531236

Institutional Source

Beutler Lab

Gene Symbol

Cirop

Ensembl Gene

ENSMUSG00000114865

Gene Name

ciliated left-right organizer metallopeptidase

Synonyms

Gm29776

MMRRC Submission

044351-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.614) question?

Stock #

R6219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54930055-54936290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54933116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 356 (Q356K)

Ref Sequence

ENSEMBL: ENSMUSP00000153646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000224691]

AlphaFold

A0A286YEC0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224691
AA Change: Q356K

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030445D17Rik	T	C	4: 136,190,059 (GRCm39)	S147P	unknown	Het
Acat2	T	C	17: 13,179,604 (GRCm39)		probably benign	Het
Ano2	A	G	6: 125,792,553 (GRCm39)	D349G	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ccnf	C	A	17: 24,445,678 (GRCm39)	E523*	probably null	Het
Ccr10	C	T	11: 101,065,375 (GRCm39)	A52T	possibly damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,230,951 (GRCm39)	E1379G	probably damaging	Het
Cyfip1	A	G	7: 55,558,189 (GRCm39)	D822G	possibly damaging	Het
Cyp4a29	A	C	4: 115,106,927 (GRCm39)	T195P	probably damaging	Het
Dmxl1	A	T	18: 50,035,434 (GRCm39)	T2283S	probably damaging	Het
Dnah7b	A	G	1: 46,272,745 (GRCm39)	D2291G	probably benign	Het
Dock3	T	A	9: 106,872,080 (GRCm39)	L493F	probably damaging	Het
Fbxw7	G	A	3: 84,876,520 (GRCm39)	G227D	probably damaging	Het
Fmo2	A	T	1: 162,708,085 (GRCm39)	V350D	probably damaging	Het
Glis1	C	T	4: 107,489,102 (GRCm39)	P487S	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm35315	G	T	5: 110,226,410 (GRCm39)	T343K	probably benign	Het
Gpr141	A	G	13: 19,936,697 (GRCm39)	I26T	probably benign	Het
Hectd4	T	G	5: 121,446,941 (GRCm39)	V311G	possibly damaging	Het
Ino80d	C	T	1: 63,118,206 (GRCm39)	E322K	possibly damaging	Het
Irs2	A	G	8: 11,055,121 (GRCm39)	S1104P	probably damaging	Het
Lama1	T	C	17: 68,097,851 (GRCm39)	F1744L	probably benign	Het
Lcn10	A	T	2: 25,573,587 (GRCm39)	R55*	probably null	Het
Lrp2	A	T	2: 69,299,822 (GRCm39)	C3077S	probably damaging	Het
Mdc1	T	A	17: 36,161,566 (GRCm39)	S826R	probably benign	Het
Nr2c1	G	T	10: 93,999,648 (GRCm39)	V103L	probably benign	Het
Nup133	A	T	8: 124,663,612 (GRCm39)	D310E	possibly damaging	Het
Or7c70	A	G	10: 78,683,093 (GRCm39)	S219P	possibly damaging	Het
Pip5k1b	T	A	19: 24,359,187 (GRCm39)	E112D	probably damaging	Het
Pira12	A	T	7: 3,897,640 (GRCm39)	V485E	probably damaging	Het
Reln	T	C	5: 22,153,594 (GRCm39)	K2237E	probably damaging	Het
Sirt2	A	G	7: 28,466,940 (GRCm39)		probably benign	Het
Slit2	A	T	5: 48,459,770 (GRCm39)	H1350L	possibly damaging	Het
Snx15	A	G	19: 6,171,538 (GRCm39)	S179P	probably damaging	Het
Sp8	T	G	12: 118,812,402 (GRCm39)	S86A	probably benign	Het
Sptbn5	T	C	2: 119,907,803 (GRCm39)		probably benign	Het
Tfap4	A	G	16: 4,365,175 (GRCm39)	S196P	probably damaging	Het
Tgm3	T	C	2: 129,880,530 (GRCm39)		probably null	Het
Tnks2	T	C	19: 36,843,604 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,642,511 (GRCm39)		probably null	Het
Vwa3b	C	A	1: 37,139,779 (GRCm39)	Q367K	possibly damaging	Het
Zdhhc20	A	T	14: 58,078,340 (GRCm39)	V312E	probably damaging	Het

Other mutations in Cirop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6243:Cirop	UTSW	14	54,933,216 (GRCm39)	missense	probably damaging	1.00
R9098:Cirop	UTSW	14	54,932,686 (GRCm39)	missense	probably damaging	0.99
Z1177:Cirop	UTSW	14	54,933,965 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAACCGCAGAGATCCCTC -3'
(R):5'- ACTTTGCAGGGAGCTCCTTTG -3'

Sequencing Primer
(F):5'- GAGATCCCTCTGCACCAGCTC -3'
(R):5'- AGTAACACCTTGGGATGATGG -3'

Posted On

2018-08-07