Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4466001:Cdr1'

555813

Institutional Source

Beutler Lab

Gene Symbol

Cdr1

Ensembl Gene

ENSMUSG00000090546

Gene Name

cerebellar degeneration related antigen 1

Synonyms

Cdr34, Gm2409, Gm7077

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

PIT4466001 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

61184005-61185558 bp(-) (GRCm38)

Type of Mutation

small deletion (18 aa in frame mutation)

DNA Base Change (assembly)

AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC to AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC at 61184524 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166381]

Predicted Effect

probably benign
Transcript: ENSMUST00000166381

SMART Domains

Protein: ENSMUSP00000126250
Gene: ENSMUSG00000090546

Domain	Start	End	E-Value	Type
low complexity region	149	183	N/A	INTRINSIC
low complexity region	367	444	N/A	INTRINSIC

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,620,560	P258T	probably damaging	Het
Adamts1	C	A	16: 85,796,691	G719*	probably null	Het
Ano5	G	T	7: 51,544,851	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,402,949	V714A	possibly damaging	Het
AU021092	T	A	16: 5,220,389	S85C	probably damaging	Het
C87414	A	C	5: 93,636,288	L439R	probably damaging	Het
Capn5	T	C	7: 98,123,988	D603G	probably benign	Het
Cbr1	T	A	16: 93,609,804	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,041,727	M102V	unknown	Het
Ccr1	T	C	9: 123,963,728	Y255C	probably damaging	Het
Cep112	A	G	11: 108,519,896	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101	L533F	unknown	Het
Cntnap1	T	C	11: 101,177,305	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,161,863	D84G	probably damaging	Het
Ddx47	T	C	6: 135,015,840	I154T	probably benign	Het
Dnah6	A	G	6: 73,208,641	L99P	probably benign	Het
Dzank1	A	G	2: 144,483,373	I558T	probably benign	Het
Fbn1	T	C	2: 125,306,501	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194	C166F	probably damaging	Het
Fndc1	A	G	17: 7,750,374	L1553P	probably damaging	Het
Frem1	G	A	4: 82,972,137	T1035I	probably benign	Het
Gm3099	A	G	14: 4,000,549	M128V	probably benign	Het
Gpaa1	C	T	15: 76,334,740	T594I	probably benign	Het
Hck	C	T	2: 153,124,271	T55M	probably damaging	Het
Hectd4	T	C	5: 121,333,060		probably null	Het
Ica1l	C	T	1: 60,015,836		probably null	Het
Ilf3	T	C	9: 21,403,366	Y765H	unknown	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,708,897	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541	D498N	probably benign	Het
Naaladl1	A	T	19: 6,114,633	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,405,657	I1909N	probably benign	Het
Negr1	A	G	3: 156,859,598	D107G	probably benign	Het
Nlrc4	A	G	17: 74,427,119	M933T	probably benign	Het
Nmnat3	T	G	9: 98,410,253	F184V	probably benign	Het
Olfr1271	A	T	2: 90,266,295	V45E	probably damaging	Het
Olfr510	T	C	7: 108,667,536	V40A	possibly damaging	Het
Olfr8	C	A	10: 78,955,842	F212L	probably benign	Het
Olfr809	C	T	10: 129,776,273	R120C	probably benign	Het
Pfkfb4	T	C	9: 108,999,154	Y86H	probably benign	Het
Pgm5	T	G	19: 24,824,329	Q178H	probably damaging	Het
Phrf1	C	T	7: 141,258,812	T640M	unknown	Het
Psg18	T	G	7: 18,349,316	T305P	probably benign	Het
Skil	T	A	3: 31,098,232	V301D	probably damaging	Het
Slc36a1	C	A	11: 55,219,069	P68T	probably damaging	Het
Smim6	T	C	11: 115,913,545	F53L	probably benign	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Tpgs2	G	A	18: 25,168,595	T5M	possibly damaging	Het
Trrap	T	A	5: 144,828,600	V2523D	probably benign	Het
Usp9y	A	T	Y: 1,432,197	D429E	probably damaging	Het
Vmn1r125	A	G	7: 21,272,893	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,540,996	F93L	probably damaging	Het
Vmn1r88	A	G	7: 13,178,476	N253S	possibly damaging	Het
Zfp644	C	T	5: 106,636,477	A735T	probably damaging	Het

Other mutations in Cdr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02796:Cdr1	APN	X	61184481	missense	possibly damaging	0.90
IGL03201:Cdr1	APN	X	61185548	missense	unknown
R0309:Cdr1	UTSW	X	61185302	missense	unknown
R1691:Cdr1	UTSW	X	61184174	missense	possibly damaging	0.90
R2014:Cdr1	UTSW	X	61184814	missense	probably benign	0.27
R2015:Cdr1	UTSW	X	61184814	missense	probably benign	0.27
R2937:Cdr1	UTSW	X	61185362	missense	unknown
R2938:Cdr1	UTSW	X	61185362	missense	unknown
R7786:Cdr1	UTSW	X	61184524	small deletion	probably benign
R7849:Cdr1	UTSW	X	61184524	small deletion	probably benign
R7983:Cdr1	UTSW	X	61184524	small deletion	probably benign
R8265:Cdr1	UTSW	X	61184524	small deletion	probably benign
Z1088:Cdr1	UTSW	X	61184104	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- CTTCCCAGAAATCGAAGTCTTCC -3'
(R):5'- GGGAAGACTTGGACTTCTGG -3'

Sequencing Primer
(F):5'- AGTCTTCCCGAAAATCCAAGTCTTC -3'
(R):5'- GACTTGGACTTCTGGGAAGAC -3'

Posted On

2019-06-07